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Article

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).

Genes - 21 Nov 2019

Habibi Imen, Falfoul Yosra, Todorova Margarita G, Wyrsch Stefan, Vaclavik Veronika, Helfenstein Maria, Turki Ahmed, Matri Khaled El, Matri Leila El, Schorderet Daniel F

Abstract excerpt

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation....

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Identifiers

PMID: 31766397
DOI: 10.3390/genes10120953
PMCID: PMC6947566

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