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

Contributors: Aditi Jani MD, Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS
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Synopsis

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders that predominantly affects the retinal photoreceptors, resulting in a progressive visual decline. It is characterized as a progressive, diffuse vision loss that affects mainly night vision and peripheral vision. It starts with rod photoreceptor degeneration followed by cone photoreceptors and retinal pigment epithelial (RPE) cell degeneration. Prevalence of RP is 1 in 3000-5000 people. Because the rods are affected first, patients will start to have trouble with night vision. As the disease progresses over decades, the peripheral vision loss can progress to tunnel vision. The disease is typically bilateral but can be asymmetric.

The clinical picture may occur in isolation or as part of numerous syndromic conditions. These include abetalipoproteinemia, Usher syndrome, Biemond syndrome type 2, 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).

There is no known risk factor to RP. Many gene mutations are associated with it, the most common being the rhodopsin gene (RHO). RP can occur as a sporadic mutation or be autosomal dominant, recessive, or X-linked. Most autosomal recessive cases are associated with other systemic disorders. Patients can undergo genetic testing to see which gene mutations are associated with which disease. Mutation in RPE65 is particularly important as that mutation is the only one approved for genetic therapy.

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 associated syndromes are more variable and should be called "pigmentary retinopathy" instead.

For more information, see OMIM.

Codes

ICD10CM:
H35.52 – Pigmentary retinal dystrophy

SNOMEDCT:
28835009 – Retinitis pigmentosa

Look For

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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 laboratory testing should include rapid plasma reagin (RPR) and venereal disease research laboratory (VDRL) tests or the fluorescent treponemal antibody absorption (FTA-ABS) test 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. When limited to one eye, the pigmentary changes are more likely due to environmental or nutritional defects. There are a few cases of asymmetric RP, however.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/13/2020
Last Updated:10/29/2020
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Retinitis pigmentosa - External and Internal Eye
Retinitis pigmentosa : Narrowed retinal vessels, Night blindness, Retinal pigment clumping, Visual field defect, Visual impairment, Pale optic nerve
Clinical image of Retinitis pigmentosa
Copyright © 2021 VisualDx®. All rights reserved.