Retinitis Pigmentosa

Inherited retinal degeneration, tunnel vision and night blindness

Overview

Retinitis pigmentosa, RP, is a group of inherited retinal diseases in which the rod photoreceptors, and later the cones, progressively degenerate. Typical symptoms begin with night blindness, often in adolescence or early adulthood, followed by gradual loss of peripheral vision that produces tunnel vision, while central vision may be preserved until late. Examination classically shows dark bone spicule pigment clumps in the peripheral retina, narrowed blood vessels, and a pale optic disc. RP is genetically very diverse, with variants in many different genes, including RHO, USH2A, and RPGR, and it may be inherited in autosomal dominant, autosomal recessive, or X linked patterns. It can also occur as part of syndromes such as Usher syndrome, which combines RP with hearing loss, and Bardet Biedl syndrome. Diagnosis relies on retinal examination, visual field testing, electroretinography, and genetic testing. Gene therapy for RPE65 related disease and retinal prostheses have restored partial function in selected patients, and low vision rehabilitation and genetic counseling are part of care.