NCT02771236|Recruiting
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Sponsor study identifier
Secondary identifiers
observational
5,000
8 countries
10
Study Start
October 4, 2016
Actual (reported)Primary Completion
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests. ...
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
May 12, 2016
Actual (reported)May 13, 2016
Actual (reported)October 4, 2016
Actual (reported)January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Document the clinical and genetic features of Mendelian and age related visual disorders
Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases
Study duration
Participants with cataracts
Participants with corneal dystrophies
Participants with glaucoma or other anterior chamber anomalies
Participants with lens refractive errors including myopia and hyperopia
Participants with retinal degenerations
Participants with inherited eye diseases.
University of California, San Diego
La Jolla, California, 92093-0603, United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
James F Hejtmancik, M.D.
National Eye Institute (NEI)
First Submitted
May 12, 2016
First Posted
May 13, 2016
Study Start
October 4, 2016
Actual (reported)Primary Completion
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Contact the study team to confirm eligibility.
Duke University Eye Center
Durham, North Carolina, 27708, United States
Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University
Guangzhou, China
Aravind Medical Research Foundation
Madurai, India
Seconda Universita di Napoli
Naples, 80014, Italy
National Centre of Excellence in Molecular Biology, University of the Punjab
Lahore, 53700, Pakistan
University of the Philippines
Manila, 4031, Philippines
The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy
Odesa, 6500, Ukraine
University of Exeter
Exeter, United Kingdom
Study Completion
January 1, 2032
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
October 26, 2026
Record last verified: 2026-06-02
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