An observational study in Inherited Ophthalmic Diseases, Hypopigmentation Disorder and Corneal Dystrophy, sponsored by National Eye Institute (NEI). Recruiting at 2 sites in United States. Open to participants aged 1 Day to 120 Years. Per ClinicalTrials.gov, last updated 2026-11-06.
Sponsored by National Eye Institute (NEI) · Observational
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
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.
STUDY DESCRIPTION:
Molecular genetics has revolutionized the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease is augmented by the availability of patient DNA coupled to phenotypic information. To expand the current eyeGENE (Registered Trademark) data repository, participants will be accrued from targeted rare and ultra-rare disease populations.
OBJECTIVES:
Primary Objective:
-To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual
Secondary Objectives:
343 studies on the registry are indexed under Vitiligo; 96 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 114 across 67 observational studies indexed under Vitiligo.
Browse Vitiligo studies →National Eye Institute (NEI) is the lead sponsor of 272 studies on the registry; 17 are open to participants now.
Of its 8 completed or terminated interventional studies of FDA-regulated products, 8 (100%) have results posted.
Counted across the registry records on this site, refreshed daily.
Participants with inherited eye diseases or their unaffected relatives.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
In order to be eligible to participate in this study, an individual must meet all of the following criteria:
The participant must present with characteristics consistent with one of the following diagnoses:
OR
The participant must be a direct, close relative of an affected participant.
OR
A participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing.
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
An individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging:
Participants with inherited eye diseases or relative of affected participant
To expand the current eyeGENE data repository with targeted participant accrual.
To expand the current eyeGENE data repository with targeted participant accrual.
Time frame: 30 years
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
Time frame: 30 years
To establish genotype-phenotype correlations for rare eye diseases.
To establish genotype-phenotype correlations for rare eye diseases.
Time frame: 30 years
Plan to share: No
Started Jul 2024 (actual). Primary completion is estimated for Jun 2054, 359 months after the start.
Of 25 observational studies under Vitiligo, half reached primary completion within 21 months of starting (the median), counting those still running; a quarter within 10. This study's planned 359 months is above that.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
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