Research Applications for Striatech Products

Rare and Inherited CNS and Eye Disorders

Genetic and congenital disorders of the CNS and visual system — individually rare, collectively affecting hundreds of millions. Models span inherited retinal dystrophies, leukodystrophies, rare optic neuropathies, and metabolic disease with ocular involvement.
Introduction

What is Rare and Inherited CNS and Eye Disorders?

Rare and inherited disorders of the central nervous system (CNS) and visual system encompass a heterogeneous group of conditions united by two defining features: a genetic or congenital aetiology and a low individual prevalence (fewer than 1 in 2,000 persons in the European Union). Individually uncommon, these conditions collectively affect an estimated 300 million people worldwide, representing one of medicine's most significant areas of unmet therapeutic need. The genetic causes are highly diverse, ranging from point mutations in single myelin structural genes – such as PLP1 mutations in Pelizaeus-Merzbacher disease (PMD) – to chromosomal rearrangements, copy-number variants, repeat expansions, and complex chromatin remodelling defects. Common disease entities within this broad category include inherited retinal dystrophies (retinitis pigmentosa, Leber congenital amaurosis, X-linked retinoschisis), leukodystrophies (PMD, Krabbe disease, metachromatic leukodystrophy), rare optic neuropathies (Wolfram syndrome, Leber hereditary optic neuropathy), rare metabolic and neurological conditions with ocular manifestations (Allan-Herndon-Dudley syndrome, mitochondrial complex I deficiency), and monogenic autoinflammatory disorders presenting with retinal dystrophy (ROSAH syndrome, NLRP3-related conditions). The pathological mechanisms operating in these disorders are diverse. In inherited retinal dystrophies, primary photoreceptor or retinal pigment epithelium (RPE) dysfunction leads to progressive outer retinal degeneration driven by metabolic insufficiency, unfolded protein stress, or failure of phototransduction biochemistry. In inherited leukodystrophies, deficiency of CNS myelin structural proteins disrupts saltatory conduction along myelinated axons – including those of the optic nerve and optic radiation – with secondary neuroinflammation amplifying axon degeneration over time. In rare metabolic disorders such as Wolfram syndrome and AHDS, metabolic transporter or thyroid hormone signalling defects impair neuronal energetics and CNS development. In monogenic autoinflammatory conditions, constitutive innate immune activation drives retinal inflammation and ganglion cell or RPE degeneration. Despite this mechanistic diversity, a shared research challenge applies across all these conditions: the need for validated, non-invasive, longitudinal functional endpoints that can track disease progression and capture treatment responses in animal models without requiring repeated terminal sampling. Preclinical research in this space relies on a growing portfolio of genetically defined mouse and rat models – from classical models such as the jimpy mouse (Plp1jp/Y) and rd1 mouse (Pde6brd1/rd1) to newer knock-in models that more precisely recapitulate human variant effects. For many of these conditions, mutations in genes expressed in both the CNS and the retina mean that the visual system is an informative readout for systemic disease severity. Automated, non-invasive measurement of visual function provides a compelling alternative to terminal histological assessment, enabling the longitudinal study of disease trajectories and therapeutic responses within the same animal cohort across weeks or months.
Vision: A Window into the brain 

Why Are Visual Endpoints Relevant in Rare and Inherited CNS and Eye Disorders Research?

The retina and optic nerve are direct anatomical extensions of the CNS, sharing the same myelin proteins (PLP1, MBP, MOG), the same glial cell populations (astrocytes, microglia, oligodendrocytes), and the same susceptibility to metabolic, inflammatory, and genetic insults that affect the brain and spinal cord. This continuity means that many rare CNS diseases produce measurable changes in visual function even when the primary pathology is not in the eye itself. In PMD, for example, PLP1 mutations disrupt myelin compaction throughout the CNS including the optic nerve, producing quantifiable visual acuity deficits that reflect broader CNS myelination status. In Wolfram syndrome, optic atrophy is one of the four cardinal syndrome features, driven by the same WFS1 metabolic transporter deficiency that affects pancreatic beta cells and brainstem neurons. In AHDS, thyroid hormone transporter deficiency impairs CNS myelination broadly, with visual pathway involvement detectable through functional testing. In each of these contexts, measuring visual function is not peripheral to the primary CNS research question – it is a non-invasive, real-time window into CNS integrity. For researchers whose primary focus is not the visual system, visual function testing offers concrete scientific and operational advantages in rare inherited disorder research. The optomotor reflex is a fully automated, observer-independent, and non-terminal assay that can be performed repeatedly on the same animals throughout their lifespan, generating longitudinal data that would otherwise require cohort sacrifice at each time point. The retina is uniquely accessible: it is the only location in the body where CNS neurons, myelin, and vasculature can be assessed non-invasively and in vivo, making it a singular window for monitoring systemic CNS disease activity. Additionally, because rare disease models often carry progressive pathology with variable penetrance, visual endpoints provide a continuous, quantitative measure that is more sensitive to gradual functional change than dichotomous clinical scoring systems. Striatech's OptoDrum automates the optomotor assay entirely, requiring no animal training and producing objective threshold measurements in approximately four minutes per animal.
Animal Models

What Are Common Animal Models For Rare and Inherited CNS and Eye Disorders?

  • Jimpy mouse (Plp1jp/Y) – A severe X-linked PLP1 hypomorphic mutant modelling Pelizaeus-Merzbacher disease. Profound CNS hypomyelination leads to premature death at approximately 3 weeks in hemizygous males. Visual acuity deficits detectable by OptoDrum reflect optic nerve demyelination status (Hovhannisyan et al., 2015, J Comp Neurol; DOI: 10.1002/cne.23818).
  • Rumpshaker mouse (Plp1rsh) – A milder PLP1 allele modelling the rumpshaker form of PMD. Animals survive to adulthood with progressive demyelination and neuroinflammation, making them suitable for longitudinal therapeutic studies in which animals are sufficiently functional to undergo training-dependent behavioural assays.
  • Wfs1 knockout / knock-in models – Models of Wolfram syndrome (DIDMOAD) exhibiting progressive optic nerve degeneration, diabetes mellitus, and neurodegeneration. Visual function decline measured by OptoDrum parallels optic nerve axon loss (Rossi et al., 2023, Elife; DOI: 10.7554/eLife.81779).
  • Mct8/Oatp1c1 double knockout (dKO) – Model of Allan-Herndon-Dudley syndrome (AHDS), a rare X-linked thyroid hormone transporter deficiency. Severe CNS hypomyelination and profound psychomotor impairment make reflex-based visual testing preferable over training-dependent assays (Maity-Kumar et al., 2022, Mol Metab; DOI: 10.1016/j.molmet.2022.101616).
  • NTE/PNPLA6-deficient mice – Models of PNPLA6-related retinal dystrophy and spastic ataxia-neuropathy (Gordon Holmes syndrome). Progressive optic nerve damage and retinal dystrophy are quantifiable by OptoDrum (Liu et al., 2024, Brain; DOI: 10.1093/brain/awae055).
  • rd1 mouse (Pde6brd1/rd1) – A classical rapid-onset model of retinitis pigmentosa. Rod photoreceptor degeneration begins in the first postnatal week; cone loss follows. Widely used for gene therapy and neuroprotection studies in inherited retinal disease. Scotopic function testing with the ScotopicKit is particularly informative in this model.
  • rd10 mouse (Pde6brd10/rd10) – A slower-progressing RP model with rod degeneration beginning around postnatal day 18. Preferred for longitudinal functional studies and therapeutic window identification; cognitively and motorically intact animals are suitable for both OptoDrum and training-dependent (AcuiSee) visual testing.
  • RPE65 mutation models (rd12, Rpe65 KO) – Models of Leber congenital amaurosis type 2, caused by RPE65 deficiency. Severe early-onset visual impairment from birth; the target of the first FDA-approved in vivo gene therapy (Luxturna). Photopic and scotopic visual function measurable by OptoDrum and ScotopicKit; operant testing with AcuiSee can evaluate whether gene therapy also restores cortically-mediated visual discrimination.
  • Rs1 knockout – Model of X-linked juvenile retinoschisis caused by retinoschisin deficiency. Characteristic inner nuclear layer splitting produces electrophysiological and functional visual deficits measurable by optomotor testing.
  • KAT6A / chromatin remodelling models – Models of Sifrim-Hitz-Weiss syndrome (KAT6A mutations) and related chromatin remodelling disorders affecting CNS development. Visual function phenotyping by OptoDrum, and potentially by AcuiSee for assessment of cortical visual processing, establishes whether visual circuit development is affected in these rare neurodevelopmental syndromes (Larrigan et al., 2023, Hum Mol Genet; DOI: 10.1093/hmg/ddad157).
  • ALPK1 gain-of-function models – Models of ROSAH syndrome, a rare inherited autoinflammatory retinal disorder. Constitutive ALPK1 activity drives retinal ganglion cell dysfunction and retinal dystrophy, detectable and treatable responses quantifiable by OptoDrum (Fan et al., 2025, Nat Commun; DOI: 10.1038/s41467-025-63731-5; Kozycki et al., 2022, Ann Rheum Dis; DOI: 10.1136/annrheumdis-2022-222629).
  • Mitochondrial complex I deficiency models (Ndufs4 KO) – Models of Leigh syndrome and LHON-related retinal degeneration. Non-invasive ophthalmological assessment including OptoDrum has been validated in these models to track progressive retinal dysfunction (Avrutsky et al., 2022, Transl Vis Sci Technol; DOI: 10.1167/tvst.11.8.5).
Research Questions

How Can Striatech Tools support Your Study?

Select a question that matches your research objective to see which instruments are relevant, what challenge they address, and what the published evidence shows.
01
How Can I Characterise the Visual Phenotype of a Newly Generated Rare Disease Mouse Model?
Audience A - Vision-focused

Quick Answer

The OptoDrum delivers automated, non-invasive measurement of spatial visual acuity and contrast sensitivity via the optomotor reflex in approximately four minutes per animal, with no training required. It provides a quantitative functional benchmark – in cycles per degree – that distinguishes affected from wild-type animals, compares candidate models, and characterises the severity and time course of visual pathway dysfunction in any newly generated rare disease line. Where the disease in question may specifically affect cortical visual processing (for example, rare neurodevelopmental syndromes involving the CNS broadly), AcuiSee’s operant paradigm provides a complementary, cortically anchored acuity assessment that can differentiate retinal and subcortical dysfunction from impairment of higher visual processing.

The challenge

When a new genetically modified mouse or rat line is generated to model a rare inherited disorder, one of the first tasks is a comprehensive phenotypic characterisation that establishes which organ systems are functionally affected. Visual function is frequently included in phenotypic batteries because many rare CNS and eye disorders involve the optic nerve, retina, or visual cortex to varying degrees – yet the severity and time course of visual impairment are often not known in advance for a new genetic model. Traditional approaches to visual characterisation, such as electroretinography (ERG), visual evoked potentials (VEP), or retinal histology, are technically demanding and either require anaesthesia or terminal sacrifice, precluding longitudinal follow-up in the same animals. The challenge is therefore to rapidly and objectively benchmark visual function in a new model with minimal animal burden, using an assay that is sensitive enough to detect subtle functional differences between genotypes and scalable enough to accommodate the small cohort sizes common in rare disease research.

For researchers working on neurodevelopmental rare diseases – such as Sifrim-Hitz-Weiss syndrome, albinism-related visual circuit disorders, or congenital myopathies with potential extraocular involvement – an additional challenge is that the connection to visual function may not be immediately obvious and may not be restricted to the retina. In these cases, a two-stage strategy is particularly valuable: the OptoDrum provides a rapid, non-invasive subcortical screen that can confirm or rule out visual impairment without dedicated histological resources, while AcuiSee’s operant paradigm can subsequently characterise whether higher visual cortex function is specifically affected in those animals where the subcortical test indicates intact or ambiguous function.

For a broader discussion of the genetic basis and phenotypic spectrum of inherited retinal diseases, see the Retinal Degeneration and Inherited Retinal Disease application page. For models involving optic nerve pathology, see Glaucoma and Optic Nerve Neurodegeneration. For visual circuit development in inherited models, see Neurodevelopment and Circuit Mechanisms.

How Striatech products help

OptoDrum

Automatically measures spatial visual acuity (cycles per degree) and contrast sensitivity via the optomotor reflex in awake, freely moving mice or rats. No training required; approximately 4 minutes per animal. Enables rapid phenotypic screening across genotypes and time points, distinguishing models with primary photoreceptor dysfunction, optic nerve pathology, or intact visual function. Particularly well-suited to rare disease studies where cohort sizes are small and throughput per session is important.

AcuiSee

Measures visual acuity and contrast sensitivity via operant conditioning (forced-choice visual discrimination), a paradigm that requires intact cortical visual processing. After a 10-14 day training period, AcuiSee complements OptoDrum by establishing whether visual deficits extend to the cortical level. This is particularly relevant for rare syndromes that affect CNS development or higher neural circuits broadly (for example, KAT6A mutations in Sifrim-Hitz-Weiss syndrome), where impaired cortical processing may exist alongside normal or near-normal retinal function. Animals must be neurologically and motorically capable of completing the training protocol for AcuiSee to be applicable.

ScotopicKit

Extends measurement to rod-photoreceptor-mediated (scotopic) visual acuity and contrast sensitivity in 1-log-unit luminance steps. Enables distinction between cone-mediated and rod-mediated dysfunction – critical for characterising models of retinitis pigmentosa or other rod-dominant inherited retinal dystrophies where scotopic deficits precede photopic decline.

DarkAdapt

A completely light-tight housing box for dark-adapting animals prior to scotopic OptoDrum testing. Ensures rigorous dark adaptation in a well-lit laboratory environment without requiring a dedicated dark room.

Non-aversive Animal Platform

Allows voluntary entry of animals from their home cage via a Tunnel-Lid design, minimising handling stress. Particularly relevant for rare disease models in which animals may be debilitated, exhibiting motor deficits, or stress-reactive due to their CNS phenotype.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Kuchtey et al (2024) Am J Ophthalmol.

    This study systematically evaluated multiple candidate mouse models for a rare inherited form of glaucoma, using OptoDrum to quantify RGC dysfunction and visual acuity across genotypes. The study demonstrates how functional visual phenotyping can discriminate between candidate models and identify which lines are most suitable for subsequent drug development studies. OptoDrum use confirmed by related-to-product-optodrum data-class tag. For broader optic nerve context, see Glaucoma and Optic Nerve Neurodegeneration.

  • Larrigan et al (2023) Hum Mol Genet.

    This study phenotyped mouse models of Sifrim-Hitz-Weiss syndrome (KAT6A mutations) including visual function assessment by OptoDrum, establishing whether this rare chromatin remodelling neurodevelopmental disorder affects the visual system. The study illustrates the scientific value of including visual function in broad phenotypic batteries for rare syndromes, even when visual involvement is not the primary research focus. OptoDrum use confirmed by data-class tag. For broader neurodevelopmental context, see Neurodevelopment and Circuit Mechanisms.

  • Slavi et al (2023) Neuron
    Feature →

    This Neuron study characterised how CyclinD2-mediated retinal neurogenesis determines visual acuity in albino mice – animals carrying inherited mutations that alter retinal ganglion cell projection routing and reduce cortical visual representation. OptoDrum measured visual acuity as a developmental phenotypic readout, demonstrating that inherited disruptions to retinal neurogenesis produce quantifiable functional deficits. OptoDrum use confirmed by data-class tag.

  • Eckhardt et al (2020) Hum. Mol. Genet.

    This study applied OptoDrum to a congenital myopathy model – a rare inherited muscle disease – to determine whether the condition affects optomotor function, which has both a visual detection and a motor head-tracking component. The study broadens the scope of OptoDrum phenotyping to rare disorders with potential extraocular or cervical muscle involvement, where the motor component of the reflex may itself be informative about disease severity. OptoDrum use confirmed by data-class tag.

  • Prusky et al, 2004

    ). That study used a custom apparatus; Striatech’s OptoDrum delivers the same endpoint in a fully automated, standardised format that eliminates inter-experimenter variability.

02
How Does Inherited CNS Demyelination Affect Visual Function in Rare Leukodystrophy Models?
Audience A - Vision-focused
Audience B - CNS/Systemic

Quick Answer

In PLP1-related leukodystrophies (Pelizaeus-Merzbacher disease and related conditions), demyelination of the optic nerve and optic radiation produces quantifiable visual acuity deficits detectable by OptoDrum, with severity correlating with neuropathological grade. Multiple Striatech-supported publications spanning 2015 to 2023 demonstrate that OptoDrum can track demyelination-associated visual decline longitudinally and detect treatment-related functional preservation in jimpy and rumpshaker mice. In milder leukodystrophy models where animals survive to adulthood with sufficient motor and cognitive function, AcuiSee can additionally assess whether demyelination of the optic radiation impairs cortically mediated visual discrimination – providing a more direct readout of higher visual processing integrity.

The challenge

Leukodystrophies are rare inherited disorders defined by abnormal myelin formation or maintenance in the CNS. In PLP1-related leukodystrophies – the most common X-linked leukodystrophy spectrum, encompassing PMD and spastic paraplegia type 2 – the optic nerve is prominently affected. PLP1 and its isoform DM20 are the primary structural proteins of CNS myelin, expressed at high levels in oligodendrocytes throughout the brain, spinal cord, and optic nerve. Mutation severity varies considerably: gene duplications, null alleles, and severe hypomorphic alleles such as the jimpy mutation each produce distinct severity profiles and differing lifespans, which in turn dictate which functional assays are operationally feasible.

The central preclinical challenge is measuring CNS disease burden non-invasively across time without serial sacrifice of cohort animals. Histological myelin assessment is terminal; MRI is expensive and throughput-limited; clinical motor scoring is subject to observer variability and is further confounded by the motor impairment intrinsic to many leukodystrophy models. Visual function testing by OptoDrum offers an objective, non-terminal, high-throughput alternative that directly reports on the functional integrity of major myelinated CNS tracts and correlates with overall CNS myelination status. Secondary neuroinflammation – driven by cytotoxic CD8+ T cells accumulating in the CNS of PLP1-mutant mice and accelerating axon degeneration – further increases the importance of continuous functional monitoring. For researchers working on the inflammatory dimension of these disorders, see also Neuroinflammation and Autoimmune CNS Disease. For the related cluster topic of optic nerve axon degeneration, see stria.tech/application/axon-degeneration and stria.tech/application/neuroinflammation.

How Striatech products help

OptoDrum

Non-invasively quantifies spatial visual acuity and contrast sensitivity via the optomotor reflex in leukodystrophy model mice at any age, without anaesthesia or training. Sensitive to the progressive visual acuity decline caused by optic nerve demyelination, enabling repeated measurement from early-onset through advanced disease stages in the same cohort. Provides an objective functional correlate of neuropathological severity and is the primary recommended tool across the full range of PMD model severities.

AcuiSee

For milder leukodystrophy models in which animals survive to adulthood with sufficient cognitive and motor function (for example, Plp1rsh rumpshaker mice or related adult-viable models), AcuiSee’s operant paradigm can assess whether demyelination of the optic radiation impairs cortically mediated visual discrimination, over and above any deficit at the retinal or subcortical level. The 10-14 day training requirement must be completed during a phase of the disease when the animal is still capable of operant learning; this limits AcuiSee’s applicability to milder alleles and earlier disease stages. It is not applicable to severe rapidly-lethal models such as the jimpy mouse (Plp1jp/Y), where the disease course is incompatible with the training window.

Non-aversive Animal Platform

PMD model mice – particularly jimpy hemizygotes – exhibit severely impaired motor coordination and may be difficult to handle without inducing distress or injury. The Tunnel-Lid design allows voluntary entry from the home cage, reducing handling-related stress and improving the reliability and welfare profile of visual function measurement in neurologically impaired animals.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Groh et al (2023) Nat Commun.
    Feature →

    This Nature Communications study characterised a protective role for microglia-driven demyelination in PLP1-mutant mice, using OptoDrum to track visual function as a correlate of CNS myelination and optic nerve integrity across disease stages. The data demonstrate OptoDrum sensitivity to differences in demyelination extent in PMD model mice. OptoDrum use confirmed by data-class tag. For the neuroimmune context, see Neuroinflammation and Autoimmune CNS Disease and Ocular Inflammation and Immune-Mediated Eye Disease.

  • Hovhannisyan et al (2015) J. Comp. Neurol.

    This foundational study used OptoDrum to characterise visual acuity deficits in jimpy mice (Plp1jp/Y, a severe PMD model), establishing that PLP1-related CNS hypomyelination produces measurable functional visual impairment. This is among the earliest published demonstrations of OptoDrum use in a named rare inherited CNS disease. OptoDrum use confirmed by data-class tag.

  • Abdelwahab et al (2023) iScience

    Complementary to Groh et al. 2023, this study identified cytotoxic CD8+ T cells as effectors of secondary axon degeneration in PLP1-mutant mice. OptoDrum confirmed that T cell-mediated axon loss translates to quantifiable visual function deficits, demonstrating that OptoDrum is sensitive to functionally significant secondary neuroinflammatory events on top of the primary dysmyelination phenotype. OptoDrum use confirmed by data-class tag.

  • Berve et al (2020) J. Neuroinflammation
    Feature →

    This study used OptoDrum to characterise sex-dependent differences in visual function outcomes in a rare inherited neuroinflammatory CNS model. The data underscore that X-linked rare CNS disorders may show sex-biased phenotypic expression detectable at the functional visual level, with implications for cohort design in preclinical therapeutic studies. OptoDrum use confirmed by data-class tag.

03
Does Gene Therapy or Pharmacological Treatment Rescue Visual Function in Rare Inherited Retinal and CNS Disorders?
Audience A - Vision-focused

Quick Answer

Yes. Multiple publications underpinned by OptoDrum measurements demonstrate functional visual rescue following gene therapy in rare inherited retinal dystrophies, and functional preservation following immune modulation in rare inherited leukodystrophy. OptoDrum provides an objective, longitudinal, non-terminal efficacy readout that detects treatment effects across weeks to months within the same animal cohort. Where the translational value of a cortically anchored acuity measure is important – for example, to demonstrate full recovery of learned visual discrimination analogous to clinical best-corrected visual acuity – AcuiSee’s operant paradigm offers a complementary endpoint that is more directly analogous to human clinical testing.

The challenge

Gene therapy is the most clinically advanced precision medicine approach for rare monogenic disorders affecting the retina and optic nerve. Demonstration of visual function rescue in a preclinical model is a prerequisite for IND-enabling regulatory package development. However, the primary endpoints typically used in preclinical gene therapy studies – histological photoreceptor counts, ERG amplitudes, or immunohistochemical labelling – are either terminal, require anaesthesia, or demand specialised expertise. For programmes targeting rare CNS disorders with visual pathway involvement, the challenge is compounded by the need to demonstrate CNS benefit alongside or instead of ocular rescue.

Regulatory agencies increasingly expect demonstration of translationally credible endpoints in preclinical gene therapy studies. For rare inherited retinal diseases, visual acuity is directly analogous to the best-corrected visual acuity (BCVA) endpoint used in clinical trials. OptoDrum provides a spatial frequency threshold in cycles per degree that is conceptually equivalent to clinical acuity, bridging the translational gap between rodent and human data. AcuiSee extends this translational argument further: as a forced-choice discrimination paradigm requiring cortical visual processing, it is mechanistically closer to the psychophysical methods used in clinical optometry and gene therapy trial assessments. The combination of both instruments – OptoDrum for high-throughput, training-free longitudinal monitoring and AcuiSee for psychophysically rigorous cortical endpoint confirmation – can strengthen the preclinical evidence package for regulatory review. The use of clinical-grade vectors alongside validated functional endpoints further reinforces this translational rationale.

For a broader discussion of vision restoration strategies across disease areas, see the transversal Maintaining and Restoring Vision application page. For the inherited retinal disease context, see Retinal Degeneration and Inherited Retinal Disease. Dedicated cluster pages for the specific technologies featured in this FAQ are available at stria.tech/application/gene-therapy, stria.tech/application/retinal-degeneration, and stria.tech/application/blindness.

How Striatech products help

OptoDrum

Provides automated, non-terminal measurement of spatial visual acuity and contrast sensitivity as primary functional efficacy endpoints for gene therapy and pharmacological interventions. Longitudinal measurement within the same cohort reduces animal numbers and enables within-animal treatment comparison. No training required; suitable for animals with variable disease penetrance common in rare inherited models.

AcuiSee

Complements OptoDrum by providing a cortically mediated visual acuity endpoint via operant forced-choice discrimination. Particularly valuable in gene therapy programmes where the researcher wants to confirm that functional rescue extends beyond the retina and subcortical reflex pathway to cortical visual processing – strengthening the translational analogy to clinical BCVA improvement. AcuiSee is applicable once animals have been trained (10-14 days), which should ideally be completed before or during the pre-treatment phase so that post-treatment assessment can begin without delay. Animals should be motorically and cognitively capable of the training protocol.

ScotopicKit

For therapeutic interventions targeting rod-dominant inherited retinal dystrophies (RP models, LCA models), the ScotopicKit measures scotopic visual acuity under low-light conditions, capturing rod-specific rescue that may not be detected in photopic assays.

DarkAdapt

Provides complete dark adaptation prior to ScotopicKit testing, ensuring valid rod-specific functional measurement in gene therapy studies targeting rod photoreceptors.

Non-aversive Animal Platform

Reduces handling stress for animals in post-surgical or post-injection states, or those with residual impairment after treatment, improving both animal welfare and data quality across repeated longitudinal assessment sessions.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Chandler et al (2025) Proc Natl Acad Sci U S A.
    Journal Club →
    Feature →

    This PNAS study demonstrated that RPE-targeted AAV gene therapy restoring MCT2 expression rescues photoreceptor survival and visual function in a rare inherited retinal dystrophy model. The OptoDrum provided the primary in vivo functional evidence of visual rescue, measuring spatial visual acuity before and after treatment. OptoDrum use confirmed by data-class tag.

  • Presa et al (2025) Commun Med (Lond).
    Journal Club →

    This study validated a clinical-grade AAV vector in a preclinical rare retinal degeneration model, using OptoDrum as the primary functional efficacy endpoint. The study directly supports the use of OptoDrum-based visual acuity as a translationally credible endpoint that bridges preclinical and clinical gene therapy development. OptoDrum use confirmed by data-class tag. For therapeutic vision restoration approaches, see also Maintaining and Restoring Vision.

  • Groh et al (2021) Brain Commun.
    Journal Club →

    This Brain Communications study demonstrated that immune modulation preserves visual function in PMD model mice, using OptoDrum to track visual acuity longitudinally as a non-invasive indicator of treatment response. The study establishes that OptoDrum can detect treatment effects in rare inherited CNS disorders where optic nerve myelination – rather than retinal photoreceptors – is the target of intervention. OptoDrum use confirmed by data-class tag.

04
Which Rare Metabolic and Neurological Disorders Have Documented Visual Phenotypes in Rodent Models?
Audience A - Vision-focused
Audience B - CNS/Systemic

Quick Answer

A growing body of Striatech-supported publications documents visual function phenotypes in rodent models of Wolfram syndrome, PNPLA6-related neurodegeneration, Allan-Herndon-Dudley syndrome (AHDS), and mitochondrial complex I deficiency. In each case, the OptoDrum detected clinically meaningful visual acuity deficits that parallel the optic nerve, metabolic, or CNS pathology characterising the respective disease. The reflex-based design of the OptoDrum makes it particularly appropriate for models with severe motor or cognitive impairment – such as AHDS – where training-dependent assays are not feasible. For metabolic rare disease models in which animals have sufficient cognitive and motor capacity, AcuiSee can provide complementary cortical visual function data.

The challenge

Rare metabolic and neurological disorders – including mitochondrial encephalopathies, thyroid hormone transport deficiencies, and lysosomal or peroxisomal storage diseases – are frequently characterised by multi-system pathology that makes the selection of primary and secondary endpoints non-trivial. In many cases the visual system is affected, but the specific nature and time course of visual dysfunction have not been systematically characterised. For Wolfram syndrome, optic atrophy is one of the syndrome’s defining features, yet the functional time course of visual decline in mouse models was poorly documented prior to dedicated optomotor studies. For AHDS, severe motor and cognitive impairment complicates any behavioural readout that depends on volitional motor activity; the reflex-based OptoDrum assay is advantageous precisely because it does not require intentional cooperation from a severely neurologically impaired animal. For mitochondrial complex I deficiency, the progressive nature of retinal degeneration demands a longitudinal assay with minimal animal burden, since cohort sizes in rare metabolic disease research are typically small.

For conditions where the optic nerve is a primary site of pathology, see also stria.tech/application/optic-nerve-damage. For neurodegeneration in metabolic disorders more broadly, see the Neurodegenerative Disease application page and Glaucoma and Optic Nerve Neurodegeneration.

How Striatech products help

OptoDrum

Measures visual acuity and contrast sensitivity via the optomotor reflex without requiring cognitive cooperation from the animal. This is particularly valuable in metabolic and neurological rare disease models because many of these conditions produce motor or cognitive impairment that would confound training-dependent assays. OptoDrum is non-terminal and longitudinal, allowing disease progression tracking without sacrificing cohort animals, and its quantitative acuity threshold provides a functional correlate for optic nerve and retinal integrity that complements biochemical and histological measures.

AcuiSee

For rare metabolic disorders in which animals are cognitively and motorically intact enough to complete the 10-14 day training protocol (for example, Wfs1 models of Wolfram syndrome or PNPLA6-deficient mice, which do not manifest global cognitive or motor impairment), AcuiSee can provide a cortically anchored visual acuity measure as an additional outcome. This is relevant where the researcher wants to assess whether metabolic optic nerve damage translates to impaired cortical visual processing, or where a forced-choice paradigm is methodologically preferable for comparison with clinical optometric measures. AcuiSee is not applicable to models with severe global neurological impairment such as AHDS (Mct8/Oatp1c1 dKO), where the operant training requirement cannot be met.

Non-aversive Animal Platform

In neurologically impaired rare disease models – particularly those with spasticity, motor weakness, or reduced body weight, such as Mct8/Oatp1c1 dKO mice – the Tunnel-Lid design allows voluntary home-cage entry, reducing handling-related stress and injury risk while improving measurement reliability and animal welfare compliance.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Rossi et al (2023) Elife

    This Elife study characterised metabolic failure (MCT1 downregulation) and secondary neuroinflammation as drivers of optic nerve degeneration in Wfs1-mutant mice, with OptoDrum tracking visual acuity longitudinally as a functional readout of optic nerve integrity. The study establishes a quantitative time course of visual function loss in Wolfram syndrome and positions OptoDrum as a practical longitudinal biomarker for a rare optic neuropathy model. OptoDrum use confirmed by data-class tag. For the optic nerve dimension, see also Glaucoma and Optic Nerve Neurodegeneration.

  • Liu et al (2024) Brain.

    This Brain study characterised NTE/PNPLA6-deficient mice, demonstrating progressive optic nerve damage, retinal dystrophy, and visual function decline as measured by OptoDrum. PNPLA6 mutations in humans cause a spectrum including PNPLA6-related retinal dystrophy (Oliver McFarlane syndrome) and spastic ataxia-neuropathy syndrome (Gordon Holmes syndrome), making this a paradigmatic rare inherited disorder with dual CNS and retinal involvement. OptoDrum use confirmed by data-class tag.

  • Maity-Kumar et al (2022) Mol. Metab.

    This Molecular Metabolism study validated the Mct8/Oatp1c1 dKO mouse as a model for AHDS, using OptoDrum to characterise visual function in a model with severe psychomotor impairment. The study demonstrates the practical advantage of a reflex-based assay over training-dependent paradigms in neurologically impaired rare disease models, where the optomotor reflex can generate valid functional data even when volitional operant behaviour is not feasible. OptoDrum use confirmed by data-class tag.

  • Avrutsky et al (2022) Transl. Vis. Sci. Technol.

    This Translational Vision Science and Technology study validated non-invasive visual assessment including OptoDrum-based acuity measurement in a mouse model of mitochondrial complex I deficiency (modelling Leigh syndrome and related mitochondrial retinopathies). The study confirms that non-invasive visual endpoints can track progressive retinal degeneration in rare metabolic disease models, supporting their use as longitudinal outcome measures in preclinical mitochondrial disease programmes. OptoDrum use confirmed by data-class tag.

05
How Do Rare Immune-Mediated and Autoinflammatory Genetic Mutations Cause Ocular Damage, and Can Visual Function Track the Disease?
Audience A - Vision-focused
Audience B - CNS/Systemic

Quick Answer

Gain-of-function mutations in innate immune regulators such as ALPK1 drive constitutive retinal inflammation that produces progressive retinal ganglion cell dysfunction and retinal dystrophy detectable by OptoDrum. Published data in ROSAH syndrome models (Fan et al., 2025; Kozycki et al., 2022) demonstrate that OptoDrum is sensitive to the visual function deficit produced by innate immune overactivation and can confirm pharmacological rescue. Because ROSAH and related autoinflammatory ocular disease models typically have intact motor and cognitive function, AcuiSee is also an appropriate tool for assessing whether pharmacological treatment restores cortically mediated visual discrimination, providing a translational complement to the OptoDrum reflex endpoint.

The challenge

Monogenic autoinflammatory disorders are an emerging category of rare inherited conditions in which constitutive activation of innate immune pathways – most commonly NF-κB signalling, inflammasome activation, or interferon responses – causes sterile multisystem inflammation in the absence of classical adaptive immune triggers. A clinically important subset of these disorders prominently affects the eye. ROSAH syndrome, caused by gain-of- function mutations in ALPK1 (an innate immune sensor), presents with retinal dystrophy, optic disc oedema, splenomegaly, anhidrosis, and headache, with progressive visual loss among the most significant clinical features. Related conditions include NLRP3-related autoinflammatory retinal disease and gain-of-function STING pathway disorders with ocular manifestations.

The preclinical research challenge is twofold. First, the precise mechanism linking constitutive innate immune signalling to retinal ganglion cell dysfunction or RPE degeneration is incompletely understood, and animal models are needed to dissect the pathological cascade. Second, demonstrating therapeutic rescue of visual function in these models requires a sensitive, objective, and longitudinally repeatable functional endpoint capable of detecting partial or progressive recovery. OptoDrum satisfies this requirement via its continuous, automated acuity threshold measurement. AcuiSee further adds a psychophysically rigorous cortical dimension: because ROSAH animals have broadly preserved neurological and motor function, they are suitable candidates for the operant training protocol, and AcuiSee can confirm whether pharmacological rescue that restores retinal ganglion cell integrity (detected by OptoDrum) also results in normalisation of cortical visual discrimination. For the broader inflammatory context of these disorders, see Ocular Inflammation and Immune-Mediated Eye Disease and Neuroinflammation and Autoimmune CNS Disease. For the retinal dystrophy endpoint, see stria.tech/application/retinal-dystrophy.

How Striatech products help

OptoDrum

Quantifies spatial visual acuity and contrast sensitivity via the optomotor reflex in awake, unrestrained animals. Detects the onset of visual decline before terminal photoreceptor loss, enabling therapeutic window identification. Provides an objective, longitudinal measure of pharmacological or genetic rescue efficacy in autoinflammatory retinal disease models.

AcuiSee

In autoinflammatory ocular disease models such as ROSAH (where animals have broadly intact motor and cognitive function), AcuiSee provides a cortically mediated forced-choice acuity endpoint as a complement to OptoDrum. This is particularly relevant in therapeutic studies aiming to demonstrate not only retinal rescue (subcortical reflex endpoint) but also normalisation of learned visual discrimination, which provides a more direct analogy to clinical visual performance measures. The 10-14 day training period should be completed during the pre-treatment baseline phase.

Non-aversive Animal Platform

Reduces handling-related stress and supports welfare-compliant repeated testing across the longitudinal treatment course, maintaining data quality across multiple assessment sessions.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Fan et al (2025) Nat Commun.

    This Nature Communications study identified a selective ALPK1 inhibitor and demonstrated pharmacological rescue of visual function in a ROSAH syndrome mouse model, using OptoDrum as the primary functional endpoint. The study establishes that constitutive ALPK1-driven retinal neuroinflammation produces a quantifiable visual acuity deficit and that its pharmacological suppression restores function – a direct demonstration of OptoDrum utility in a named rare inherited autoinflammatory eye disease. OptoDrum use confirmed by data-class tag.

  • Kozycki et al (2022) Ann. Rheum. Dis.

    This Annals of the Rheumatic Diseases study characterised retinal dystrophy and quantifiable visual dysfunction in a rare monogenic autoinflammatory disease model caused by gain-of- function innate immune signalling mutations. OptoDrum confirmed the visual acuity phenotype associated with constitutive immune activation-driven retinal pathology. OptoDrum use confirmed by data-class tag. See also Ocular Inflammation and Immune-Mediated Eye Disease.

  • Hörner et al (2024) Thesis

    This thesis examined the contribution of neuroinflammation to axon degeneration and visual pathway dysfunction in a hereditary spastic rare CNS disease model, with OptoDrum measuring visual function as a functional correlate of inflammatory axon pathology. While thesis-level evidence, the study adds to the growing literature supporting OptoDrum use across the spectrum of rare inherited neuroinflammatory conditions. OptoDrum use confirmed by data-class tag. For the broader neuroinflammation context, see Neuroinflammation and Autoimmune CNS Disease.

06
Can Visual Function Testing Serve as a Non-Invasive, Longitudinal Efficacy Endpoint in Rare Disease Preclinical Drug Development?
Audience A - Vision-focused
Audience B - CNS/Systemic

Quick Answer

Yes. The OptoDrum’s fully automated operation, absence of training requirement, four-minute test duration, non-terminal and longitudinally repeatable design, and sensitivity to progressive and reversible visual function changes make it particularly suited to the constraints of rare disease preclinical programmes. Where the scientific or regulatory aim requires a cortically anchored visual acuity endpoint – more directly analogous to clinical BCVA than a reflex-based measure – AcuiSee’s operant paradigm provides that complement, subject to the suitability of the animal model for the training protocol. Together, the two instruments offer a tiered functional endpoint strategy that covers the full retina-to-cortex visual processing hierarchy.

The challenge

Rare disease preclinical programmes face constraints not encountered in mainstream disease research: a very limited supply of validated genetically modified animals, high cohort attrition in severe or rapidly lethal models, regulatory expectations for longitudinal and translationally credible endpoints, and small cohort sizes that limit the use of destructive sampling. In this context, terminal assays impose a hard tradeoff: the depth of characterisation at any single time point versus the total number of independent time points available across the study. Non-terminal, automated, and longitudinally repeatable assays that yield quantitative functional data circumvent this tradeoff entirely.

For rare CNS and eye disorders where the visual pathway is involved, visual acuity is a directly clinically analogous endpoint. The spatial frequency thresholds generated by OptoDrum are conceptually equivalent to the visual acuity measures used in clinical trials for gene therapy (BCVA, full-field stimulus testing, contrast sensitivity). AcuiSee’s forced-choice operant paradigm goes one step further in translational alignment: it requires the same type of conscious visual discrimination that underpins clinical psychophysical testing, providing a preclinical measure that is mechanistically closer to how clinical benefit is assessed. Regulatory bodies including the EMA and FDA have recognised, in their orphan drug and advanced therapy medicinal product (ATMP) guidance documents, the importance of endpoints that meaningfully bridge animal model data and anticipated clinical benefit. The OptoDrum-AcuiSee combination provides both a scalable screening endpoint and a cortically anchored confirmatory endpoint within a single preclinical programme.

From a 3Rs perspective, the OptoDrum’s non-terminal, non-aversive design contributes directly to the Refinement and Reduction principles. Its ability to replace terminal visual assessments at interim time points reduces total animal numbers without sacrificing the statistical power of longitudinal effect detection. These properties are increasingly expected by ethics committees and institutional animal care bodies, particularly for novel rare disease models where humane endpoint concerns may limit study duration. For related discussions of visual biomarker endpoints in aging-associated rare disease models, see also Systemic Aging and CNS Decline.

How Striatech products help

OptoDrum

Delivers automated, observer-independent visual acuity and contrast sensitivity thresholds (approximately 4 minutes per animal, no training). Non-terminal and longitudinally repeatable; enables repeated-measures designs in small rare disease cohorts. Sensitive to both progressive decline and recovery, supporting efficacy detection for neuroprotective, gene therapeutic, and immunomodulatory interventions. Objective numerical output compatible with standard longitudinal statistical models.

AcuiSee

Provides a cortically mediated visual acuity endpoint via operant forced-choice discrimination, complementing the OptoDrum’s subcortical reflex measure. Particularly relevant for drug development programmes where cortical visual recovery is a scientific or regulatory objective, or where alignment with clinical psychophysical testing methodology strengthens the translational rationale. Once trained, animals can be re-tested repeatedly across the treatment course. AcuiSee is applicable to models in which animals can complete the 10-14 day training protocol and should be integrated into study design during the pre-treatment baseline phase.

ScotopicKit

Extends longitudinal monitoring to rod-photoreceptor-mediated function, enabling separation of cone and rod functional trajectories in inherited retinal disease models where therapeutic interventions target rod rescue specifically.

DarkAdapt

Provides a standardised dark-adaptation protocol for pre-measurement preparation, ensuring reproducibility of scotopic endpoints across time points and, if applicable, study sites.

Non-aversive Animal Platform

Reduces handling stress for debilitated or neurologically impaired rare disease animals, improving both animal welfare (Refinement) and data quality (reduced variability from stress-induced confounds) across repeated longitudinal assessment sessions.

Evidence from the Literature

  • Kinuthia et al (2025) JCI Insight.
  • Insignares et al (2025) Int J Mol Sci.

    This study used OptoDrum to monitor longitudinal visual acuity decline in a rare inherited ocular disease model with overlapping axial elongation, glaucomatous, and retinal phenotypes. It illustrates how OptoDrum generates a continuous functional time series that captures progressive decline across the disease course – supporting the use of visual acuity as a primary longitudinal endpoint in complex rare disease models with multi-system involvement. OptoDrum use confirmed by data-class tag. For systemic aging-related aspects, see Systemic Aging and CNS Decline.

Product Fit

Summary: Striatech Products supporting your research questions

Research Question OptoDrum ScotopicKit AcuiSee DarkAdapt Non-aversive Platform Photorefractor Keratometer
Phenotyping (visual characterisation of rare disease models) Yes – primary tool; no training required; rapid cross-genotype screening Yes – for rod-dominant inherited retinal dystrophy models Yes – for models with intact motor and cognitive function where cortical visual processing may be specifically affected (e.g., neurodevelopmental syndromes); not applicable to severely neurologically impaired models Yes – when ScotopicKit is used Yes – for debilitated, stress-reactive, or motor-impaired models – –
Demyelination (rare leukodystrophies and optic nerve) Yes – primary tool across all severity grades – Yes – applicable in milder, adult-viable leukodystrophy models where operant training is feasible (e.g., rumpshaker); not applicable to severe rapidly lethal models (e.g., jimpy) – Yes – for neurologically impaired or motor-affected animals – –
Treatment Rescue (gene therapy, immune modulation) Yes – primary longitudinal efficacy endpoint, training-free Yes – for rod-targeted gene therapy in inherited retinal dystrophy Yes – for confirming cortical visual recovery as a translational complement to the reflex endpoint; applicable when animals are motorically and cognitively intact; training should begin in the pre-treatment phase Yes – when ScotopicKit is used for scotopic efficacy endpoints Yes – for post-injection or post-surgical animals – –
Rare Metabolic / Neurological Disorders Yes – primary tool; reflex-based design advantageous in cognitively or motorically impaired models – Yes – applicable in metabolic rare disease models with relatively preserved cognitive and motor function (e.g., Wfs1, PNPLA6 models); not applicable to severely impaired models (e.g., AHDS/Mct8 dKO) – Yes – for spastic, weak, or low-weight models – –
Autoinflammatory / Immune-Mediated Rare Eye Disease Yes – primary endpoint; sensitive to onset and pharmacological rescue – Yes – applicable in autoinflammatory ocular disease models such as ROSAH (animals typically have intact general neurology and motor function); provides cortical visual discrimination endpoint as complement to OptoDrum reflex measure – Yes – –
Biomarker Endpoint (longitudinal drug development) Yes – primary longitudinal endpoint; training-free; all model severities Yes – for rod-specific longitudinal monitoring Yes – cortically anchored confirmatory endpoint providing direct analogy to clinical BCVA for regulatory argument; applicable when model permits operant training Yes – when ScotopicKit is used Yes – across repeated assessment sessions in debilitated animals – –
Measurement Modalities

Measuring Functional Visual Outcomes in Rare and Inherited CNS and Eye Disorders: How Do Available Methods Compare?

Modality Invasiveness Repeatability / Longitudinal use Training required (animal) Automation 3Rs impact
OptoDrum (visual acuity / contrast sensitivity) None (awake, freely moving) High – repeat weekly or more frequently without adverse effects None required Fully automated threshold determination High Refinement (non-terminal, no anaesthesia); contributes to Reduction by replacing cohort sacrifice at interim time points
AcuiSee (operant visual acuity) None (mild food restriction during training phase) High once trained; training requires 10-14 days Yes – operant forced-choice conditioning required (10-14 days) Semi-automated (chamber automated; experimenter configures sessions) Non-terminal; Refinement-compatible; training period adds initial burden but enables subsequent cortical-level endpoints without additional invasiveness
ScotopicKit + OptoDrum (scotopic vision) None High – longitudinal scotopic monitoring across disease course None required Fully automated Equivalent to OptoDrum above; extends the functional readout to rod-mediated vision without additional animal burden
Electroretinography (ERG) Low-moderate (anaesthesia required; topical dilators) Moderate – recoverable but requires repeated anaesthesia None required Partially automated (signal acquisition); manual waveform interpretation Refinement concern (repeated anaesthesia); directly measures outer retinal function; complementary to OptoDrum rather than redundant
Visual Evoked Potentials (VEP) Moderate (anaesthesia; electrode implantation in chronic preparations) Moderate (chronic electrodes allow repeat; acute preparations terminal) None required Partially automated (signal acquisition) Refinement concern; provides cortical visual function data complementary to both OptoDrum (subcortical) and AcuiSee (behavioural cortical)
Retinal histology / immunohistochemistry Terminal (enucleation and fixation) Not applicable – single time point per animal None Not automated (manual cell counting) Low – all animals sacrificed; Reduction principle strongly favours combining with non-terminal assays for interim time points
Optical coherence tomography (OCT) Low (awake or lightly sedated; mydriasis required) High – retinal layer structure measurable repeatedly None required Partially automated (acquisition automated; segmentation variable) Refinement-compatible structural complement to OptoDrum functional readout; recommended combination for comprehensive rare disease phenotyping
Intraocular pressure (IOP) tonometry Low-moderate (restraint or anaesthesia; corneal contact) Moderate – repeated measurement feasible None required Semi-automated Relevant for rare inherited glaucoma models specifically; not applicable to most other rare CNS disease categories on this page
For rare and inherited CNS and eye disorder research, the recommended strategy is to deploy the OptoDrum as the primary longitudinal functional endpoint throughout the study – generating continuous visual function data from early disease onset through to the terminal time point – and to combine it with terminal or single-point modalities (histology, ERG, immunohistochemistry) only at study conclusion. Where the programme requires a cortically anchored acuity endpoint and the animal model permits operant training, AcuiSee can be introduced during the pre-treatment baseline phase and carried forward through the post- treatment assessment period. Structural OCT is a particularly informative non-terminal addition for characterising retinal layer integrity alongside functional measures. This layered approach maximises the functional and structural information generated per animal cohort, is fully compatible with 3Rs obligations under Directive 2010/63/EU and equivalent national legislation, and produces a multi-level evidence base well-suited to the demands of orphan drug and advanced therapy regulatory submissions.
Supported by Striatech Products

Publications on Rare and Inherited CNS and Eye Disorders

Great Research, Interactive

Journal Clubs related to Rare and Inherited CNS and Eye Disorders

Featured image for “Journal Club: Gene-Agnostic Gene Therapy to Preserve Vision”
Q&A available
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Thursday, 11 Dec 2025

Journal Club: Gene-Agnostic Gene Therapy to Preserve Vision

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Constance Cepko, Ph.D. - Harvard Medical School: Genetics & Ophthalmology (Blavatnik Institute) • HHMI
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This Journal Club features innovative research by Harvard’s Cepko lab, exploring gene-independent strategies to preserve vision in retinitis pigmentosa and other genetic forms of blindness. Using AAVs to enhance metabolic support, including MCT2 expression in retinal pigment epithelial cells, they preserved cone photoreceptors and maintained color and daylight vision across diverse genotypes.
Featured image for “Journal Club: Postsynaptic Neuronal Activity Promotes Retinal Axon Regeneration”
Q&A available
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Wednesday, 21 Jun 2023

Journal Club: Postsynaptic Neuronal Activity Promotes Retinal Axon Regeneration

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Supraja Varadarajan, Ph.D. - Stanford University, School of Medicine, Huberman Lab
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This Journal Club provides insights into mechanisms that promote retinal ganglion cell (RGC) axon regeneration in vertebrates after optic nerve injury.
Featured image for “Journal Club: Inherited Retinal Dystrophy: Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration”
Q&A available
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Wednesday, 05 Apr 2023

Journal Club: Inherited Retinal Dystrophy: Chronic Proinflammatory Signaling Accelerates the Rate of Degeneration

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T.J. Hollingsworth, PhD - University of Tennessee Health Science Center
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T.J. Hollingsworth presents his work where he characterized a new polygenic mouse model of inherited retinal dystrophies, the BXD32 mouse strain. He presents evidence that a proinflammatory environment in the retina supports and accelerates the degeneration of the retina and the loss of visual function.
Featured image for “Journal Club: Developing Retinal Gene Therapy for Zellweger Spectrum Disorder (ZSD)”
Q&A available
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Wednesday, 25 Jan 2023

Journal Club: Developing Retinal Gene Therapy for Zellweger Spectrum Disorder (ZSD)

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Catherine Argyriou, PhD - McGill University, Dept of Human Genetics
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Peroxisomal disorders and the PEX1-G844D mouse model for mild Zellweger Spectrum Disorder (ZSD), leads to retinal degeneration and vision loss. Catherine Argyriou will describe how her team used AAV8-mediated gene delivery to robustly and durably improve functional vision, retinal response, retinal structure, and biochemical metabolites in ZSD-mice.
Featured image for “Journal Club: In Vivo Modeling of Immune-mediated Optic Neuropathies”
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Wednesday, 09 Nov 2022

Journal Club: In Vivo Modeling of Immune-mediated Optic Neuropathies

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Oliver W. Gramlich, Ph.D. - The University of Iowa
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This presentation will outline the pathobiology and visual phenotype of immune mediated optic neuropathies that include Multiple Sclerosis (MS), Neuromylitis optica spectrum disorders (NMOSD), and Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).
Featured image for “Journal Club: Anti-FcRn Treatment in Antibody-Associated Experimental Autoimmune Encephalomyelitis”
Q&A available
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Tuesday, 22 Mar 2022

Journal Club: Anti-FcRn Treatment in Antibody-Associated Experimental Autoimmune Encephalomyelitis

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Jana Remlinger, MSc - Department of Neurology, Inselspital, Bern University Hospital and Department for BioMedical Research (DBMR)
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Jana Remlinger et al. showed preserved visual function and ameliorated course of disease after anti-FcRn treatment in an experimental model using a monoclonal MOG-IgG to mimic MOGAD.
Featured image for “Webinar: AcuiSee – Rodent Visual Acuity Using Behavioral Conditioning”
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Wednesday, 17 Nov 2021

Webinar: AcuiSee – Rodent Visual Acuity Using Behavioral Conditioning

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Dr. Jeffrey A Jamison - Experimentica Ltd.
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In this Webinar, Dr. Jeff Jamison will talk about “AcuiSee”, with which one can measure rodent vision based on an operant conditioning paradigm. Jeff is the developer of AcuiSee, and he now works as Director of In-Vivo Pharmacology at Experimentica.
Featured image for “Webinar: Visual Acuity as a Relevant Phenotype in Mouse Models of Rare Disease”
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Thursday, 08 Oct 2020

Webinar: Visual Acuity as a Relevant Phenotype in Mouse Models of Rare Disease

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Zoë Bichler, PhD - The Jackson Laboratory
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Maximiliano Presa, PhD - The Jackson Laboratory
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The Jackson Laboratory will introduce their Neurobehavior Phenotyping Core, in which they also do visual acuity measurements. They will present two examples where the OptoDrum has been used to characterizte vision in animal models for rare disease: The Charcot-Marie-Tooth-disease, and Multiple-Sulfatase-Deficiency.
Featured image for “Journal Club: Measuring Visual Acuity and Contrast Sensitivity by Optomotor Reflex in Rodents”
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Thursday, 02 Apr 2020

Journal Club: Measuring Visual Acuity and Contrast Sensitivity by Optomotor Reflex in Rodents

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Dr. Thomas Münch - Striatech
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Dr. Kaushikaram Subramanian - Max Planck Institute of Molecular Cell Biology and Genetics
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Prof. Volker Enzmann - Department of Ophthalmology, University of Bern
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In vision research, observing the optomotor reflex (OMR) is an important and widely established method for assessing visual acuity and contrast sensitivity in rodents. In this event, we will hear about several applications of OMR measuremnts, ranging from quantification of retinal degeneration to characterization of night vision.
Keep exploring

Related application areas, neighbouring research chapters, and the questions researchers ask most.

Research Chapter

Rare and Inherited CNS and Eye Disorders

Genetic and congenital disorders of the CNS and visual system — individually rare, collectively affecting hundreds of millions. Models span inherited retinal dystrophies, leukodystrophies, rare optic neuropathies, and metabolic disease with ocular involvement.

10
Application Areas
6
FAQs answered
Part of Foundations & Models

Main Application Areas

PLP defects
Rare Disease

Additional Topics

Axon Degeneration
Blindness
Gene Therapy
Neuroinflammation
Optic Nerve Damage
Optic Neuritis
Retinal Degeneration
Retinal Dystrophy