Clinical and Molecular Studies in Families With Inherited Eye Disease

NCT02771236 · tracked via the Priya Life Science China tracker

Sponsor

National Eye Institute (NEI)

Phase

Observational

Started

2016-10-04

Last updated

2026-08-07

Condition(s) studied

Inherited Eye Disease

Study summary

Background:

Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases.

Objective:

To try to identify the genes linked to the development of inherited eye diseases.

Eligibility:

People ages 4 and older who have or have a family member with an inherited eye disease

Design:

Participants will be screened with medical history and medical records.

Participants will have one visit that will take 3-4 hours. This will include:

Medical and family history

Eye exam: This includes the pupil being dilated.

Electroretinography: A small electrode is taped to the forehead. Participants sit in the

dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in

the eyes. They will watch flashing lights.

Blood tests

Saliva sample: They will spit into a container or have the inside of their cheek swabbed.

Genetic testing will be done on participants blood or saliva.

Participants may meet with the researchers to discuss their genetic tests.

Eligibility

Sex

ALL

Min age

4 Years

Max age

120 Years

Healthy volunteers

* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable; 1. Participant must be four years of age or older. 2. Participant must understand and sign the protocol s informed consent document. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related. 4. All participants must be able to cooperate with study examination and phlebotomy. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present: 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc. 2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections. 3. Participant requires sedation for study purposes.

Primary outcome measure(s)

Document the clinical and genetic features of Mendelian and age related visual disorders — Study 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

Trial sites (10)

Facility	City	Region	Status
University of California, San Diego	La Jolla	California	Recruiting
National Institutes of Health Clinical Center	Bethesda	Maryland	Recruiting
Duke University Eye Center	Durham	North Carolina	Withdrawn
Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University	Guangzhou	China	Recruiting
Aravind Medical Research Foundation	Madurai	India	Withdrawn
Seconda Universita di Napoli	Naples	Italy	Withdrawn
National Centre of Excellence in Molecular Biology, University of the Punjab	Lahore	Pakistan	Suspended
University of the Philippines	Manila	Philippines	Recruiting
The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy	Odesa	Ukraine	Recruiting
University of Exeter	Exeter	United Kingdom	Suspended

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT02771236 on ClinicalTrials.gov ↗ ← All trials in China