Genetic and Clinical Evaluation of Families With Inherited Eye Diseases Including Cataracts, Glaucoma, and Retinal Disorders

What this Trial Is About

Researchers are studying inherited eye diseases to identify the genes linked to their development. This research focuses on families from diverse backgrounds affected by conditions such as cataracts, corneal dystrophies, retinal degenerations, myopia, and glaucoma. The goal is to understand the genetic causes and how these mutations affect the eyes function. Participants will undergo detailed eye examinations, including pupil dilation and electroretinography, which measures eye function using electrodes and flashing lights. Blood and saliva samples will be collected for genetic testing and biochemical analyses. This study includes families with multiple affected members and uses advanced genetic sequencing techniques to identify mutations. Up to 5,000 participants may be enrolled. During one visit lasting 3 to 4 hours, participants will provide medical and family history, receive an eye exam, and have blood and saliva samples taken. Researchers will analyze genetic and clinical data to document inherited eye disorders. Some participants may discuss their genetic test results with the study team. The study will continue until 2032, with ongoing assessments to understand the genetic and clinical features of these eye diseases.

Clinical and Molecular Studies in Families With Inherited Eye Disease