Generation of Induced Pluripotent Stem Cell Lines From Somatic Cells of Participants With Eye Diseases and Matched Controls

What this Trial Is About

Researchers are collecting cells from people affected by several eye diseases, including Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD), as well as from healthy volunteers. The study aims to create induced pluripotent stem (iPS) cells from these samples to better understand the molecular mechanisms behind these diseases and to explore potential treatments. The research involves a wide range of retinal and ocular conditions and includes matched healthy participants for comparison. Participants will provide samples of hair, skin, saliva, urine, and/or blood during typically one visit to the National Eye Institute. Skin biopsies and blood samples are collected with specific volume limits depending on age. The collected cells will be used to generate iPS cells that can develop into retinal pigment epithelium (RPE), neural retina, or other eye-related cells. These cells may be genetically modified and tested in laboratory settings, including high throughput drug screening to identify possible therapeutic compounds. During the single study visit, participants undergo screening including medical and eye disease history and possibly an eye exam. Samples such as hair from the back of the head, saliva, urine, blood, and skin from the inside of the upper arm will be collected. The research team will analyze the generated cells for molecular and physiological features related to disease onset and progression. Participants may be asked to return if initial samples are insufficient for generating cells. The overall participation involves minimal risk and primarily focuses on cell collection and laboratory studies.

Cell Collection to Study Eye Diseases