Understanding the genetics behind inherited eye diseases

The Genetics of Inherited Eye Disease

This study is trying to find out which genes are linked to inherited eye diseases and how these genes affect symptoms in people with similar conditions, involving 1,100 patients and 400 healthy family members.

Quick facts

• Study type: Observational
• Enrollment: 1500 (estimated)
• Ages: 1 Year to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT02471287 on ClinicalTrials.gov

What this trial studies

This observational study aims to identify the genes involved in inherited eye diseases and understand how symptoms vary among individuals with similar genetic changes. Participants will undergo medical history assessments, physical and eye exams, and may provide various biological samples, including blood, skin, and tears. The study will enroll 1,100 individuals with known or suspected inherited eye diseases and 400 healthy relatives to establish a foundation for future disease-specific protocols and research. The findings could lead to improved diagnostic and treatment strategies in ophthalmology.

Who should consider this trial

Good fit: Ideal candidates include individuals with known or suspected inherited eye diseases and their unaffected relatives.

Not a fit: Patients with clear non-genetic causes of eye disease may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance the understanding of genetic eye diseases, leading to better diagnosis and treatment options for patients.

How similar studies have performed: Other studies have successfully identified genetic factors in inherited diseases, suggesting potential for success in this approach.

Eligibility criteria

* INCLUSION CRITERIA:

Participants will be eligible if they:

1. 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.
2. Have the ability to cooperate with an age-appropriate eye exam.
3. 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.

EXCLUSION CRITERIA:

Participants will not be eligible if:

1. They are unwilling or unable to be followed as clinically indicated.
2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.

Exclusion Criteria for MRI (if applicable)

Participants will not be eligible for optional MRI procedure if:

1. 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.
2. They have claustrophobia and would feel uncomfortable in the MRI machine.
3. They are not able to lie comfortably on their back for up to one (1) hour.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Laryssa A Huryn, M.D. — National Eye Institute (NEI)
• Study coordinator: Daniel W Claus, R.N.

Conditions Genetic Eye Disease; Rare; Ocular