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Genetic Testing for Inherited Eye Conditions

This study aims to find the genetic causes of inherited eye conditions by looking closely at your genes through whole exome or whole genome sequencing. This involves examining your DNA to identify changes (mutations) in known genes or to discover new genes linked to eye diseases. We are looking for 2,000 participants, including individuals with an eye condition and their family members, ideally parents. The goal is to understand the underlying genetics of these conditions, which could lead to new discoveries. The study is ongoing until affected participants receive their primary genetic results.

Study design
This is an observational study planning to enroll 2,000 participants, including individuals with an eye condition and their family members.
What's involved
You would provide samples for genetic testing (whole exome or whole genome sequencing). Your participation continues until the affected family member receives their primary results.
Compensation
Not stated in the trial record.
Follow-up
Participation is ongoing until the affected participant receives confirmed primary results. Unaffected family members' participation is ongoing until their affected family member receives primary results.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02077894

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

Recruiting
Not specifiedAges 1+Observational
National Eye Institute (NEI)
~2,000 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
This is an etiologic study that will generate new genes or variants for inherited eye diseases.
Measured over Until the affected participant has received confirmed Primary Results (PRs). Unaffected family members may or may not receive any results, but their participation will be ongoing until their affected family member receives PRs.

Conditions

Genetic Eye Disease

Explore related trials

Genetic Disorder

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Bin Guan, Ph.D. · PRINCIPAL_INVESTIGATOR · National Eye Institute (NEI)

Who to contact

Delphine M Blain, CGC
[email protected]
(301) 496-1410
Email the study team

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What this trial measures

  • This is an etiologic study that will generate new genes or variants for inherited eye diseases.Until the affected participant has received confirmed Primary Results (PRs). Unaffected family members may or may not receive any results, but their participation will be ongoing until their affected family member receives PRs.

    This is an etiologic study that will generate molecular information about previously-recognized conditions for which participants did not have a molecular diagnosis, as well as molecular information for previously uncharacterized eye conditions.