Novel <i>BEST1</i> mutation in autosomal recessive bestrophinopathy in Japanese siblings.

BVMD is an autosomal dominant retinopathy with the following clinical characteristics: the accumulation of lipofuscin within and beneath the RPE, which presents as yellowish, vitelliform, or egg-yolk-like lesions in the macula.[ 4 ] In contrast, ARB is characterized by multifocal yellowish lipofuscin deposits, cystoid macular edema, and subretinal fluid.[ 5 ] BVMD and ARB are associated with central visual loss.[ 6 ] Identifying the genotype–phenotype correlations that are associated with BEST1 mutations may be significant to clarify their pathophysiological mechanism.

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