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Retinitis pigmentosa: Clinical presentation and diagnosis

Authors
Syndee Givre, MD, PhD
Seema Garg, MD, PhD
Section Editor
Jonathan Trobe, MD
Deputy Editor
Janet L Wilterdink, MD

INTRODUCTION

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 retinitis pigmentosa 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 will discuss the natural history, diagnosis, and genetics of retinitis pigmentosa. Treatment and prognosis for retinitis pigmentosa are discussed separately. (See "Retinitis pigmentosa: Treatment".)

                          

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Literature review current through: Nov 2016. | This topic last updated: Thu Aug 20 00:00:00 GMT+00:00 2015.
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