Color Vision Loss Progression in IRD Patients: Retinal Structural Changes Correlations, and a Novel Color Discrimination Test for Extreme Low Vision Patients

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
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⁃ 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

Locations
Other Locations
China
Renmin Hospital of Wuhan University
RECRUITING
Wuhan
Contact Information
Primary
Wenhui Zhou
mojtaba98shirinzadeh@gmail.com
+86 15527905531
Time Frame
Start Date: 2025-06-04
Estimated Completion Date: 2027-09-28
Participants
Target number of participants: 200
Treatments
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
Sponsors
Leads: Zhongmou Therapeutics
Collaborators: Renmin Hospital of Wuhan University, Wuhan University

This content was sourced from clinicaltrials.gov