Natural History Study of Inherited Retinal Diseases

NCT07085533 | Recruiting

• 1 other identifier: Moji test-01
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal Dystrophies (IRDs). The study will recruit approximately 200 subjects, encompassing a heterogeneous population of IRD patients-spanning a range of genotypes and clinical severities-as well as control participants devoid of retinal pathology. All enrolled individuals will undergo a standardized battery of evaluations, including quantitative color vision assessment, best-corrected visual acuity (BCVA) determination, and advanced multimodal retinal imaging. The principal aim is to characterize the relationship between impairments in color discrimination and morphologic disruptions within the outer retinal layers, with particular emphasis on the continuity and reflectivity of the ellipsoid zone (EZ)-historically referred to as the inner segment/outer segment (IS/OS) junction-assessed through spectral-domain optical coherence tomography (SD-OCT). Further, the study will explore associations between chromatic perceptual deficits and underlying genetic mutations, mutation patterns specific to IRD subtypes, and the influence of patient age on the severity and progression of color vision loss. A key secondary objective is the clinical appraisal and validation of a novel diagnostic modality, the Moji Low-Vision Color Discrimination Test (Moji Test), which is specifically engineered to quantify residual color perception in individuals with advanced central visual impairment. The test's discriminatory capacity will be benchmarked against established color vision testing paradigms to assess its reliability, clinical sensitivity, and suitability for implementation in populations with severe visual acuity reduction. By incorporating a genetically and phenotypically diverse IRD cohort, the study is designed to enable granular, stratified analyses that will refine the understanding of structural-functional correlations in hereditary retinal disease. The inclusion of a control group with preserved retinal architecture and normal color vision function will provide essential normative baselines for comparative evaluation and statistical inference.

Conditions

Retinal Dystrophies; Color Vision Defects; Vision Disorders; Macular Degeneration; Achromatopsia; Optical Coherence Tomography (OCT); Visual Acuity; Genotype; Mutation; Phenotype

Keywords

observational; IRD; ultra low vision; inherited retinal disease; color vision; color test

Outcome Measures

Primary Outcomes (2)

• Comparison of the Moji Low Vision Color Discrimination Test with other color discrimination tests in detecting participants' color vision ability.

  Color vision ability will be measured by three different color discrimination tests including Ishihara color test, Low Vision Cambridge Color test (LVCCT), and Moji Low vision Color Discrimination Test (Moji LVCDT). The result will be presented as the score/full score (unit: %) for each test. And the respond percentage of the participants for each test will be compared.

  Baseline (single visit)

• Evaluating the efficiency of Moji LVCDT in participants with extreme Low BCVA

  Moji LVCDT is conducted using novel Moji test device and protocol to detect the color vision ability of participants. This test can be performed for participants with best corrected visual acuity (BCVA) from normal vision to participants with light perception BCVA, focusing whether having the best efficiency for the participants with extreme low vision (LogMAR 1.6 and above).

  Baseline (single visit)

Secondary Outcomes (3)

• Evaluating the correlation Between Color Vision Loss (unit: Ishihara color test result score percentage) and IS/OS junction length (unit: μm).

  Baseline (single visit)

• Evaluating the correlation Between Color Vision Loss (unit: Low Vision Cambridge Color Vision Test result score percentage) and IS/OS junction length (unit: μm).

  Baseline (single visit)

• Evaluating the correlation Between Color Vision Loss (unit: Moji Low Vision Color Discrimination Test result score percentage) and IS/OS junction length (unit: μm).

  Baseline (single visit)

Study Arms (2)

Study Group: IRD participants

Individuals in the IRD participants group should have a clinical diagnosis of an inherited retinal dystrophy (such as retinitis pigmentosa, cone or cone-rod dystrophy, rod-cone dystrophy, achromatopsia, etc.). This can be confirmed by genetic testing and comprehensive clinical evaluation ( Best-Corrected Visual Acuity (BCVA), Color Vision Assessment, Visual Field Testing, Full-Field Electroretinography (ffERG), Multifocal ERG (mfERG), Electrooculography (EOG), Optical Coherence Tomography (OCT), Fundus Autofluorescence (FAF), Color Fundus Photography, Dark Adaptometry, Optical Coherence Tomography Angiography (OCTA)).

Control Group: Non- IRD participants

participants without IRD

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals diagnosed with inherited retinal diseases (IRD) and non-IRD individuals

You may qualify if:

• Color Perception and Communication Ability Participants must have the ability to verbally identify or describe colors and test stimuli. This requires adequate cognitive and communicative capacity to understand instructions and respond appropriately during color vision testing.
• Diagnosis of Inherited Retinal Dystrophy (IRD Group Only) Participants assigned to the IRD group must have a confirmed clinical diagnosis of an inherited retinal dystrophy
• No Evidence of Inherited Retinal Disease (Control Group Only)
• Participants in the control group must have:
• No known history or clinical evidence of inherited retinal degeneration
• Normal retinal health or only non-retinal ocular conditions not affecting retinal function (e.g., mild cataract, corrected refractive error)
• Normal or expected-normal color vision

You may not qualify if:

• Non retinal causes of color vision loss
• Optic neuropathies (e.g., optic neuritis, glaucoma related optic nerve damage)
• Cortical vision impairments affecting color perception
• Any other neurological or optic nerve pathology causing color vision deficiency
• Psychological or cognitive conditions affecting color perception or communication
• Severe developmental delays
• Cognitive impairments interfering with ability to comprehend or reliably perform color vision tests
• Psychiatric conditions that impair visual interpretation or reliable testing
• Prior treatment with potential transient effects on the retina
• Recent retinal surgery
• Recent drug therapy affecting retinal structure or function
• Any acute intervention that might confound the correlation analyses due to lack of a stable baseline

Sponsors & Collaborators

• Wuhan University: collaborator
• Renmin Hospital of Wuhan University: collaborator
• Zhongmou Therapeutics: lead

Study Sites (1)

Renmin Hospital of Wuhan University

Wuhan, China

RECRUITING

MeSH Terms

Conditions

Retinal Dystrophies; Color Vision Defects; Vision Disorders; Macular Degeneration

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Cone Dystrophy; Eye Diseases, Hereditary; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Yin Shen

  Renmin Hospital of Wuhan University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Wenhui Zhou

CONTACT

+86 15527905531; mojtaba98shirinzadeh@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2025
• First Posted: July 25, 2025
• Study Start: July 20, 2025
• Primary Completion (Estimated): June 4, 2027
• Study Completion (Estimated): September 28, 2027
• Last Updated: December 10, 2025

Record last verified: 2025-07

Locations

CN (1)