Observational Study of Inherited Eye Diseases

This observational study aims to better understand inherited eye diseases by identifying the genes responsible for them. Researchers will study families with various inherited eye conditions, including cataracts, corneal diseases, and retinal degenerations. There are no interventions or medications being tested in this study. The main goal is to document the clinical features and genetic makeup of these eye disorders. You may be eligible if you are at least 4 years old and have an inherited eye disease, or if a family member does. The study plans to enroll up to 5000 participants.

Study design
This is an observational study designed to gather information from up to 5000 individuals and families with inherited eye diseases.
What's involved
You would have one visit lasting 3-4 hours, which includes a medical and family history, an eye exam with dilated pupils, and an electroretinography (an eye test). A blood sample will also be collected.
Compensation
Not stated in the trial record.
Follow-up
The primary goal is to document clinical and genetic features over the study's duration, but specific follow-up after the initial visit is not detailed.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02771236

Clinical and Molecular Studies in Families With Inherited Eye Disease

Recruiting
Not specifiedAges 4+Observational
National Eye Institute (NEI)
~5,000 participants
Updated 2026-08-07 on ClinicalTrials.gov

At a glance

Recruiting sites
5 of 10 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Document the clinical and genetic features of Mendelian and age related visual disorders
Measured over Study duration
Inherited Eye Disease
10 sites across 10 states
California1
Maryland1
North Carolina1
China1
India1
Italy1
Pakistan1
Philippines1
  • James F Hejtmancik, M.D. · PRINCIPAL_INVESTIGATOR · National Eye Institute (NEI)

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  • Document the clinical and genetic features of Mendelian and age related visual disordersStudy duration

    Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases