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LETTERS • Arq. Bras. Oftalmol. 82 (2) • Mar-Apr 2019 • https://doi.org/10.5935/0004-2749.20190033 linkcopy

Open-access Retinal dystrophies and variants in PRPH2

Distrofias retinianas e variantes em PRPH2

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    ABSTRACT |

    This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

    Keywords: Retinal degeneration; Genotyping techniques; Vitelliform macular dystrophy; Retinitis pigmentosa; Genetics

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