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- Title
PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.
- Authors
Fernández-Berdasco, Karina; Galvez-Olortegui, José; Guillén-Lozada, Sussan's Pamela; García González, Noelia; Castro-Navarro, Joaquín
- Abstract
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. Autofluorescence and fluorescein angiography revealed perifoveal atrophy of the retinal pigmentary epithelium with an annular window effect without the "dark choroid" sign. Case 2 (mother of Case 1) presented with extensive atrophy of the retinal pigmentary epithelium and choriocapillaris. PRPH2 was evaluated and the c.582-1G>A mutation was identified in heterozygosity. An advanced adult-onset benign concentric annular macular dystrophy diagnosis was thereby proposed. The c.582-1G>A mutation is poorly known and not present in all common genomic databases. This case report is the first one to report a c.582-1G>A mutation associated with benign concentric annular macular dystrophy.
- Subjects
MACULAR degeneration; RETINITIS pigmentosa; FLUORESCENCE angiography; RETINAL degeneration; GENETIC mutation; CORNEAL dystrophies
- Publication
Arquivos Brasileiros de Oftalmologia, 2024, Vol 87, Issue 5, p1
- ISSN
0004-2749
- Publication type
Article
- DOI
10.5935/0004-2749.2021-0478