Recruiting

Inherited Eye DiseaseClinical and Molecular Studies in Families With Inherited Eye Disease

Sponsor:

National Eye Institute (NEI)

Code:

NCT02771236

Conditions

Inherited Eye Disease

Eligibility Criteria

Sex: All

Age: 4 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Inherited Eye Disease

Study ID

NCT02771236

Start date

Oct 4, 2016

Status verified date

Jun 2, 2026

Completion date

Jan 1, 2032

Anticipated

Primary completion date

Jan 1, 2032

Anticipated

Eligibility Criteria

Sex: All

Age: 4 - 70+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Participants with cataracts

Participants with corneal dystrophies

Participants with glaucoma

Participants with glaucoma or other anterior chamber anomalies

Participants with lens refractive errors

Participants with lens refractive errors including myopia and hyperopia

Participants with retinal degenerations

Primary outcome measure

Document the clinical and genetic features of Mendelian and age related visual disorders [ Time Frame: Study duration ]

Central Contacts and Locations

Central contacts

James F Hejtmancik, M.D.

(301) 435-1598 f3h@helix.nih.gov

Locations

University of California, San Diego

Recruiting

La Jolla, California, United States, 92093-0603

Contacts

Radha Ayyagari, Ph.D.

858-534-9029 rayyagari@ucsd.edu

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222 prpl@cc.nih.gov

More Information

Sponsor

National Eye Institute (NEI)

Last update posted

Aug 7, 2026

Last verified

Jun 2, 2026

Keywords

Genetics
Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Eye Institute (NEI) on 2026-08-07.