LAUSR

Bestrophinopathies are genetic retinal disorders characterized by variants in the BEST1 gene, formerly named VMD2. They include Best vitelliform macular dystrophy, adult-onset foveomacular vitelliform dystrophy, autosomal recessive bestrophinopathy (ARB), and autosomal dominant vitreoretinochoroidopathy (1). The BEST1 gene codes for the Bestrophin 1 protein, a Ca ++ - activated Cl− channel. This channel, uniquely expressed in the basolateral retinal pigment epithelium (RPE) (1–3), is implicated in anion transport, regulation of intracellular calcium signaling and cell volume (3–6). A dysfunctional Bestrophin 1 is associated with an accumulation of lipofuscin within RPE cells, as well as apoptosis of RPE cells in some mutations of BEST1 (p.V143F, p. S142 G, and p.A146T) (7). More than 400 variants in the BEST1 gene have been described in the literature (8). This article describes the presentation of an ARB associated with compound heterozygous variants in the BEST1 gene, which have not previously been reported.