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Clinical and Molecular Studies in Families With Inherited Eye Disease

NCT02771236 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 5000

Last updated 2026-05-22

No results posted yet for this 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.

Conditions

  • Inherited Eye Disease

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • James F Hejtmancik, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
4 Years
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-10-04
Primary Completion
2032-01-01
Completion
2032-01-01

Countries

  • United States
  • China
  • India
  • Italy
  • Pakistan
  • Philippines
  • Ukraine
  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02771236 on ClinicalTrials.gov