Article
PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.
Arquivos brasileiros de oftalmologia - 1 Jan 2023
Fernández-Berdasco Karina, Galvez-Olortegui José, Guillén-Lozada Sussan's Pamela, González Noelia García, Castro-Navarro Joaquín
Abstract excerpt
The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here Case 1 was of a 54-year-old woman with bilateral atrophy of the perifoveal retinal pigmentary epithelium and choriocapillaris with central foveolar respect....
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