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Published on: December 29, 2017
Retinal dystrophies and variants in PRPH2
Mariana Matioli da Palma1,2, Daniel Martin1, Mariana Vallim Salles2,3
1Instituto Suel Abujamra, São Paulo, SP, Brazil.
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.
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