Study of Genes in Inherited Eye Diseases and Their Effects

What this Trial Is About

Researchers aim to learn more about the genes involved in inherited eye diseases by studying individuals who have a known or suspected genetic eye condition and their relatives. The study seeks to identify new genes related to these diseases and understand how symptoms may vary among people with similar genetic changes. This observational study also hopes to establish a detailed genetic and clinical database to support future treatment developments and research. Participants will undergo a comprehensive evaluation including medical history review, physical and eye exams, and blood sample collection. Depending on their condition, they may provide additional samples such as eye cell swabs or biopsies, skin biopsies, tears, urine, saliva, stool, hair, or cheek cell samples. Specialized eye tests such as retina imaging, eye movement evaluations, dye-based angiography, microperimetry, and color vision tests may be performed. Some participants may also undergo MRI scans and complete questionnaires to provide more information. During the study, participants will be closely examined and have various samples collected to support genetic analysis and research. Researchers will collect detailed clinical data through electronic medical records and other testing outcomes to identify disease-specific findings. The main goal is to establish a group of participants for ongoing genetic research. Participation may last several years, with ongoing data collection and optional procedures based on individual circumstances.

Genetics of Inherited Eye Disease