Bestrophinopathies are a spectrum of inherited retinal dystrophies which are caused by the pathogenic variation in the Bestrophin-1, the protein product of the BEST1 gene (OMIM 607854, formerly known as VMD2 gene) found on the long arm of chromosome 11 (11q12), that is a 585-amino acid pentameric Ca+2 activated Cl− channel localized to the basolateral membrane of retinal pigment epithelium (RPE) [1], [2]. This multifunctional gene product plays important roles in different intra- and extra-cellular ionic mechanisms in addition to adjustment of normal ocular development [2], [3], [4]. Pathogenic variants in the BEST1 gene lead to a variety of ocular phenotypes including Best vitelliform macular dystrophy (BVMD) (OMIM 153700); adult-onset vitelliform macular degeneration (AVMD) (OMIM 608161); autosomal dominant vitreoretinochoroidopathy (ADVIRC) (OMIM 193220); microcornea, rod-cone dystrophy, cataract, and posterior staphyloma syndrome (MRCS) (OMIM 193220); atypical retinitis pigmentosa (OMIM 613194) and autosomal recessive bestrophinopathy (ARB) (OMIM 611809) [1], [2].

ARB is caused by biallelic pathogenic variants in the BEST1 gene and has been first described in 2008 with findings consisting of central visual loss due to subretinal fluid or macular edema, characteristic retinopathy with the punctate flecks and vitelliform material deposition, an absent or severely reduced electrooculogram (EOG), abnormal or subnormal electroretinogram (ERG), and hyperopia with in some cases of shallow anterior chamber [5], [6], [7].

In this article, six cases with ARB are presented along with their clinical findings, multimodal retinal imaging characteristics and genetic analysis.