An observational study in Retinitis Pigmentosa and Inherited Ophthalmic Diseases, sponsored by National Eye Institute (NEI). Completed at 1 site in United States. Open to participants aged 1 Day to 100 Years. Per ClinicalTrials.gov, last updated 2025-12-08.
Sponsored by National Eye Institute (NEI) · Observational
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE(R)) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE(R) is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. This study collects DNA samples from patients with inherited eye diseases to facilitate research to identify genetic factors responsible for these conditions. Nearly 500 genes that contribute to inherited eye diseases have been identified. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable.
Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the biorepository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples are available to researchers along with information about the patient's disease, but without patient identifiers.
Molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease would be augmented by the availability of patient DNA coupled to robust, anonymous phenotypic information. The National Ophthalmic Genotyping and Phenotyping Network (eyeGENE(R)) has been created to answer this need. By creating a national DNA and blood repository for inherited eye disease. These samples have been gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. If requested, a portion of the sample submitted by a clinician can be used for appropriate, CLIA-certified molecular diagnostics that can be used in patient care. Once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. Participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered. Researchers can request aliquots for their laboratory experiments or ask the eyeGENE(R) Coordinating Center to re-contact participants to inform them about the possibility to participate in a clinical study.
268 studies on the registry are indexed under Retinitis Pigmentosa; 71 are open to participants now.
This study's enrollment of 6,618 is above the median of 52 across 83 observational studies indexed under Retinitis Pigmentosa.
Browse Retinitis Pigmentosa studies →National Eye Institute (NEI) is the lead sponsor of 266 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.
To participate in this protocol:
1a. The participant must present with characteristics that meet minimal clinical criteria established by eyeGENE, as determined by the referring clinician.
OR
1b. The participant must be a relative of an affected participant if analysis would help with the interpretation of an affected participant's test results or to obtain some useful information as decided by the eyeGENE Research Study Group.
2. The participant must be willing and able to provide a suitable blood sample.
EXCLUSION CRITERIA:
Participants with inherited eye diseases or relative of affected participant
Obtain samples for the creation of eyeGENE network
Obtain and create a national DNA and blood repository for inherited eye diseases.
Time frame: 34 years
Plan to share: No
This study is completed, as verified in Dec 2025. You cannot join it, but the record below documents what was studied.
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National Eye Institute (NEI)