Clinical and Molecular Studies in Families With Inherited Eye Disease

May 28, 2026 updated by: National Eye Institute (NEI)

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Objective: This project, Clinical and Molecular Studies in Families with Inherited Eye Disease will study inherited eye diseases, both Mendelian and complex age related inherited eye diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause inherited eye diseases and the pathophysiology through which they act. Among the diseases studied will be cataracts, corneal dystrophies and other corneal diseases, retinal degenerations, myopia and other anterior chamber defects, and glaucoma.

Study Population: Families and individuals of many nationalities and ethnic backgrounds. We will study a maximum of 5,000 participants and family members.

Design: The study consists of ascertaining individuals and especially families with multiple individuals, affected by both congenital and age related inherited eye diseases. These participants and their families will undergo detailed ophthalmological examinations to characterize their visual system and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with inherited eye disease in the family. Mutation screening may involve Sanger sequencing if a small number of candidate genes are identified, or whole genome or whole exome sequencing if more genes remain as viable candidates after the initial analysis. If necessary, the gene product will be characterized biochemically. Blood samples may also be used to complete analyses such as: hemoglobin A1c (HbA1c), fasting blood glucose, and glucose tolerance tests. The study will enroll participants at NEI and collaborating institutions.

Outcome Measures: Linkage will be determined using the lod score method, association will be determined using standard statistical procedures to estimate p values, and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, bioinformatic prediction of structural damage to the protein, and molecular modeling. Assessment of biochemical, metabolic, and physiological effects of these mutations will be individualized to the specific case.

Study Type

Observational

Enrollment (Estimated)

5000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: James F Hejtmancik, M.D.
  • Phone Number: (301) 435-1598
  • Email: f3h@helix.nih.gov

Study Locations

  • China
      • Guangzhou, China
        • Recruiting
        • Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University
  • India
      • Madurai, India
        • Withdrawn
        • Aravind Medical Research Foundation
  • Italy
      • Naples, Italy, 80014
        • Withdrawn
        • Seconda Universita di Napoli
  • Pakistan
      • Lahore, Pakistan, 53700
        • Recruiting
        • National Centre of Excellence in Molecular Biology, University of the Punjab
  • Philippines
      • Manila, Philippines, 4031
        • Recruiting
        • University of the Philippines
        • Contact:
  • Ukraine
      • Odesa, Ukraine, 6500
        • Recruiting
        • The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy
  • United Kingdom
      • Exeter, United Kingdom
        • Recruiting
        • University of Exeter
        • Contact:
  • United States
    • California
      • La Jolla, California, United States, 92093-0603
        • Recruiting
        • University of California, San Diego
        • Contact:
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Phone Number: TTY8664111010 800-411-1222
          • Email: prpl@cc.nih.gov
    • North Carolina
      • Durham, North Carolina, United States, 27708
        • Withdrawn
        • Duke University Eye Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Participants with inherited eye diseases.

Description

  • 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Document the clinical and genetic features of Mendelian and age related visual disorders
Time Frame: 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
Study duration

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Eye Institute (NEI)

Investigators

  • Principal Investigator: James F Hejtmancik, M.D., National Eye Institute (NEI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 4, 2016

Primary Completion (Estimated)

January 1, 2032

Study Completion (Estimated)

January 1, 2032

Study Registration Dates

First Submitted

May 12, 2016

First Submitted That Met QC Criteria

May 12, 2016

First Posted (Estimated)

May 13, 2016

Study Record Updates

Last Update Posted (Actual)

May 29, 2026

Last Update Submitted That Met QC Criteria

May 28, 2026

Last Verified

May 27, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 160104
  • 16-EI-0104

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Inherited Eye Disease

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Australia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe