Natural history of inherited retinal diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This prospective observational study will enroll about 200 participants, including a heterogeneous group of patients with inherited retinal dystrophies (across genotypes and severities) and control participants without retinal disease. All participants will complete a standardized battery including quantitative color vision testing, best-corrected visual acuity (BCVA), and advanced multimodal retinal imaging such as spectral-domain OCT to measure ellipsoid zone (EZ) integrity and retinal thickness. The study will integrate imaging metrics with clinical and genotypic data to characterize relationships between color discrimination deficits and outer retinal microstructure. The principal focus is on linking impairments in color vision to morphological disruptions of the EZ and other retinal biomarkers.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. 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.
2. 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
3. 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

Exclusion Criteria:

1. 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
2. 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
3. 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

Where it's running

• Renmin Hospital of Wuhan University
  Wuhan, China Recruiting

Study contacts

• Principal investigator: Yin Shen — Renmin Hospital of Wuhan University
• Study coordinator: Wenhui Zhou
• Email: mojtaba98shirinzadeh@gmail.com
• Phone: +86 15527905531

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.