Retinitis Pigmentosa: Ocular Genetic Studies

Retinitis pigmentosa (RP) is a group of inherited diseases in which abnormalities in the photoreceptor cells (rods and cones) of the retina cause progressive vision loss over time. Currently, there are nearly 100 genes reported to be associated with RP. Genetic testing has become indispensable in the diagnosis and management of RP due to the clinical variability of the disease, phenotypic similarity with many inherited retinal dystrophies, the approval of gene therapy for RPE65-related inherited retinal dystrophies, and ongoing studies for a number of genes. Genetic testing also provides the most accurate information on prognosis, screening for the patient's family and subsequent generations, and facilitates genetic counseling. Although RP is the most common cause of inherited retinal dystrophies, a clear treatment modality has yet to be defined. In this review, we will describe genetic diagnostic methods and different treatment protocols in retinitis pigmetosa with their advantages and disadvantages.