Multimodal imaging and genetic analysis in a rare case of autosomal recessive bestrophinopathy in India

We report a rare case of autosomal recessive bestrophinopathy (ARB) in India, where multimodal imaging and genetic analysis were done. Optical coherence tomography revealed a thickened Verhoeff’s membrane in both eyes and genetic analysis revealed a homozygous missense mutation in exon 4. To the best of our knowledge, this is the first case of ARB in India where genetic analysis has been done.