Retinitis pigmentosa

Abstract

Retinitis pigmentosa is a clinically and genetically heterogeneous group of hereditary disorders in which there is progressive loss of photoreceptor and pigment epithelial function. The prevalence of retinitis pigmentosa is between 1/3000 and 1/5000 making it one of the most common causes of visual impairment in all age groups. The natural history, differential diagnosis, diagnostic clinical and electrophysiologic findings are reviewed. Generalization about the different genetic subtypes of retinitis pigmentosa are reviewed along with the uses of DNA probes for linkage studies. Syndromes in which retinitis pigmentosa is a manifestation are summarized.