Best vitelliform macular dystrophy (BVD) is a slowly progressive form of macular dystrophy. In most cases this disease begins in childhood although sometimes it can develop in later age. The diagnosis of BVD is based on family history, clinical and electrophysiological findings. Clinical signs are variable, yet the majority of patients have a typical yellow yolk-like macular lesion in the eye fundus. Lesions are usually bilateral, but in rare cases can be unilateral. Atrophy of the macula may develop after many years. The mutations responsible for Best vitelliform macular dystrophy are found in a gene called VMD2, which encodes a transmembrane protein named bestrophin-1 (hBest1) that is a Ca2+-sensitive chloride channel. Most reported cases causing the disease are in exons 2, 4, 6 and 8 in patients with BVD. In this article we discuss the etiology of Best’s vitelliform macular dystrophy, clinical presentation, diagnostics, genetic and current treatment possibilities.
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