Actively Recruiting
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Led by National Eye Institute (NEI) · Updated on 2026-05-04
1000
Participants Needed
2
Research Sites
1563 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases. Objective: To collect information and DNA samples for the study of eye diseases. * Primary objective --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual * Secondary objectives * To enhance recruitment for clinical trials and investigations in inherited eye diseases * To establish genotype-phenotype correlations for rare eye diseases Eligibility: People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed. Design: Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams. Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH. Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic. The eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.
CONDITIONS
Official Title
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has a diagnosis of aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, or other hypopigmentation disorder affecting vision such as albinism
- Participant is a close relative of an affected individual
- Participant previously took part in eyeGENE Stage 1 and may benefit from further genetic testing
You will not qualify if you...
- Individuals with impaired decision-making without a legally authorized representative
- Unable to provide a saliva sample
- Having a disease or condition that makes giving a blood sample unsafe or insufficient for genetic testing
- History of epilepsy (for optional retinal imaging)
- Children under 18 years old (for optional retinal imaging)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
E
eyeGene Coordinating Center
CONTACT
B
Brian P Brooks, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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