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RecruitingNCT01432847

Cell Collection to Study Eye Diseases

Trial Parameters

ConditionRetinal Disease
SponsorNational Eye Institute (NEI)
Study TypeOBSERVATIONAL
PhaseN/A
Enrollment930
SexALL
Min Age1 Day
Max Age120 Years
Start Date2011-09-07
CompletionN/A

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Brief Summary

Background: \- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, saliva, urine, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: \- To collect hair, skin, saliva, urine, and/or blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: * Individuals affected with ocular condition is one year of age or older. * Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. * Unaffected individuals are seven years of age or older. Design: * The study requires one visit to the National Eye Institute. * Participants will be screened with a medical and eye disease history. They may also have an eye exam. * Participants will provide a hair sample, saliva sample, urine sample, blood sample, and/or a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.

Eligibility Criteria

* INCLUSION CRITERIA: To be eligible, participants must meet the following inclusion criteria. 1. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. 2. Participant meets one of the following criteria: 1. Participant has been diagnosed with an ocular condition of interest including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions. 2. Participant is free of eye diseases and could serve as an unaffected control. Participant's age, sex, and ethnicity must match an existing participant with one of the eye diseases under study. Control participants matched to AMD participants must not have drusen greater than 63 microns in size. 3. Adult participant is able to provide a punch skin biopsy and 30 mL of peripheral ven

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