Collecting and Using Cells From People With Eye Diseases and Healthy Volunteers to Study Retinal Conditions

What this Trial Is About

Researchers are collecting cells from people with eye diseases such as Best Vitelliform Dystrophy Best disease, Late-Onset Retinal Degeneration L-ORD, and Age-Related Macular Degeneration AMD, as well as from healthy volunteers. These diseases affect the retina, the light-sensing part of the eye, and the study aims to better understand the molecular mechanisms behind these conditions by creating induced pluripotent stem iPS cells from collected samples. The study also includes other eye diseases and genetic mutations, with a focus on retinal pigment epithelium and neural retina cells. Participants will provide samples of hair, skin, saliva, urine, andor blood during usually one visit. Skin biopsies and blood samples are collected according to age and ability, with additional samples such as hair and saliva collected when possible. The collected cells will be used to generate iPS cells, which are then differentiated into ocular cells for studying disease pathways and for drug screening. Some participants may be asked to return for additional samples or clinical-grade cell generation. Participants are typically seen just once for sample collection, with medical and eye history screening and possibly an eye exam. Samples collected include hair from the back of the head, skin from the upper arm, saliva, urine, and blood. The researchers will analyze the cells to identify molecular and physiological changes related to eye diseases and to discover potential treatments. Participants involvement mainly consists of sample collection and providing medical history, with minimal risk and no specific clinical outcomes measured during the study.

Cell Collection to Study Eye Diseases