Retinitis pigmentosa: Diagnosis and management

Retinitis pigmentosa (RP), the most common inherited retinal dystrophy (IRD), results in profound visual disability at advanced stages. This large family of genetic disorders, funneling into the same end-stage phenotype, is the subject of significant research and progress. With gene therapy already available for RPE-65 Leber's congenital amaurosis, in essence, RP manifesting at infancy, and many more gene and other therapeutic options in the pipeline, a better understanding of this condition is essential. Here we describe the disorder's phenotype, clinical course with emphasis on its effect on patients' lives and discuss the vast genetic variability of RP. We also review imaging, psychophysical and functional studies, their contributions to diagnosis and estimation of treatment outcomes. Finally, we review the existing treatment options and mention future directions.