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Retinitis pigmentosa - External and Internal Eye
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Retinitis pigmentosa - External and Internal Eye

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Contributors: Harold E. Cross MD, PhD, Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS
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Synopsis

Retinitis pigmentosa (RP) is a descriptive term applied to a large clinically and genetically heterogeneous group of hereditary retinal disorders. The clinical picture may occur in isolation or as part of numerous syndromic conditions such as abetalipoproteinemia, Usher syndrome, Biemond syndrome II, Jalili syndrome, Senior-Løken syndrome, Bardet-Biedl syndromes, disorders of glycosylation, Kearns-Sayre syndrome, gyrate atrophy, and neurodegeneration with brain iron accumulation (formerly Hallervorden-Spatz disease). True RP is a nonsyndromic ocular disease with a characteristic clinical picture as described here, while many of the pigmentary changes in the fundi of individuals with these associated syndromes are more variable and should be called "pigmentary retinopathy" instead.

Codes

ICD10CM:
H35.52 – Pigmentary retinal dystrophy

SNOMEDCT:
28835009 – Retinitis pigmentosa

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Numerous systemic syndromes have an associated pigmentary retinopathy, and all persons with complaints of difficulty seeing at night and with abnormal fundus pigmentation should have complete physical and neurological evaluations in addition to a full ophthalmologic examination with visual field and electrophysiologic studies. Many retinal dystrophies can have similar pigmentary changes in the fundus, and further testing is necessary to distinguish these from the usual RP. Additionally, masquerade syndromes such as syphilitic retinopathy (see ocular syphilis) may mimic RP, and lab testing should include RPR and VDRL or FTA-ABS to rule out this disorder.

Many individuals complain of poor vision at night, but for most there are physiological and environmental explanations and no disease is present. Persons who complain of photopsias (light flashes), defective color vision, or anomalies of central vision such as distortion usually have another retinal condition. An ophthalmologic evaluation with fundus examination and an ERG can rule out RP.

RP is a bilaterally symmetrical disease and when limited to one eye, the pigmentary changes are more likely due to environmental insults such as trauma.

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Therapy

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References

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Last Updated: 05/23/2013
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Retinitis pigmentosa - External and Internal Eye
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Retinitis pigmentosa : Bilateral, Narrowed retinal vessels, Night blindness, Retinal pigment clumping, Visual field defect, Visual impairment, Pale optic nerve
Clinical image of Retinitis pigmentosa
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