Genetics of Inherited Eye Disease

NCT02471287 | Recruiting

• 2 other identifiers: 15012815-EI-0128
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. They also hope to learn more about how symptoms differ in people with similar gene changes. Objective: To learn more about genes involved in eye diseases. Eligibility: People who have a known or suspected inherited eye disease, and their relatives. Design:

• All participants will have a medical history, physical exam, and eye exam. They will have blood taken.
• Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure.
• Participants may have a skin biopsy. A 3mm piece of skin will be removed.
• Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells.
• Participants may have a retina test. They may also have a test that uses light to measure retina thickness.
• Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes.
• Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels.
• Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light.
• Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen.
• Participants may complete a color vision test.
• Participants will provide a specimen for genetic testing.
• Participants may have a MRI.
• Participants may complete questionnaires.

Conditions

Genetic Eye Disease

Keywords

Rare; Ocular

Outcome Measures

Primary Outcomes (1)

• Establish cohort

  Establish an initial "critical mass" of participants and knowledge to develop disease-specific protocols for specific inherited eye conditions.

  Ongoing

Secondary Outcomes (4)

• Suggest best clinical outcome measures

  ongoing

• Revealing systematic comorbidities

  ongoing

• Provide a mechanism for collecting biological samples

  ongoing

• Determine the genetic cause(s) and molecular pathogenesis

  ongoing

Study Arms (2)

Affected Participants

Participants with eye disease

Healthy volunteers

Unaffected first degree relatives of participants with a known or suspected inherited eye disease.

Eligibility Criteria

• Age: 1 Year - 120 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.

You may qualify if:

• Participants will be eligible if they:
• Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
• Have the ability to cooperate with an age-appropriate eye exam.
• Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able
• to provide consent.

You may not qualify if:

• Participants will not be eligible if:
• They are unwilling or unable to be followed as clinically indicated.
• They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
• Their participation would not contribute to the NEI research mission, at the discretion of the PI.
• Participants will not be eligible for optional MRI procedure if:
• They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
• They have claustrophobia and would feel uncomfortable in the MRI machine.
• They are not able to lie comfortably on their back for up to one (1) hour.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (1)

• Bender C, Woo EG, Guan B, Ullah E, Feng E, Turriff A, Tumminia SJ, Sieving PA, Cukras CA, Hufnagel RB. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder. Genes (Basel). 2022 Apr 12;13(4):675. doi: 10.3390/genes13040675.

  PMID: 35456481 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Laryssa A Huryn, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Daniel W Claus, R.N.

CONTACT

(301) 451-1621; daniel.claus@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 12, 2015
• First Posted: June 15, 2015
• Study Start: June 22, 2015
• Primary Completion (Estimated): September 1, 2030
• Study Completion (Estimated): September 1, 2030
• Last Updated: October 2, 2025

Record last verified: 2025-09-30

Locations

US (1)