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Retinitis pigmentosa: Clinical presentation and diagnosis

Syndee Givre, MD, PhD
Seema Garg, MD, PhD
Section Editor
Jonathan Trobe, MD
Deputy Editor
Howard Libman, MD, FACP


Retinitis pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by progressive degeneration and dysfunction of the retina, primarily affecting photoreceptor and pigment epithelial function [1]. RP may occur alone or as part of a syndrome and may be inherited as a dominant, recessive, or X-linked trait or occur sporadically. The same genetic mutation may cause different symptoms in different individuals, and the same syndrome may be caused by different mutations [2].

Night and peripheral vision are lost progressively, leading to a constricted visual field and markedly diminished vision in some patients. Retinal degeneration can be seen on ophthalmoscopy as typical bone-spicule deposits or attenuated retinal vessels, or detected in early stages by special tests of retinal function.

The term "retinitis" is a misnomer since the pathogenesis is not inflammatory. Other terms for RP include "rod-cone dystrophy," "tapetoretinal degeneration," and "pigmentary retinopathy."

A family history of RP is present in about 70 percent of patients. The worldwide prevalence of RP is estimated at 1 in 4000 to 5000 [3-7]. About 100,000 patients are affected in the United States.

This topic addresses the natural history, diagnosis, and genetics of RP. Treatment and prognosis are discussed separately. (See "Retinitis pigmentosa: Treatment".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 31, 2017.
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