Retinal Dystrophies

Excerpt

Retinal dystrophies or inherited retinal diseases (IRD) are a group of degenerative disorders of the retina with clinical and genetic heterogeneity. Common presentations include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. Multiple causative gene defects have been identified with more than 270 genes linked to various retinal dystrophy types and clinical presentations varying even among family members with the same mutation.

Diagnosis often involves genetic analysis, retinal imaging, and electrophysiological tests. Supportive care, genetic counseling, and psychological support play essential roles in managing these progressive disorders. While there is no cure, treatments like gene therapy approved by the United States Food and Drug Administration (FDA) for specific conditions like Leber congenital amaurosis, retinal prostheses, and low-vision aids aim to enhance patients' quality of life.