16.3

Best Disease

Introduction:

Best disease is due to a mutation in the BEST1 gene and is generally inherited in an autosomal dominant pattern with variable penetrance. BEST1 mutations are also associated with a variety of other phenotypes, including some cases of adult onset foveomacular dystrophy, autosomal recessive bestrophinopathy, autosomal dominant vitreochoroidopathy, and some cases of rod–cone dystrophy.

Clinical Features:

There are multiple clinical phenotypes, which represent different stages of disease and include vitelliform, pseudohypopyon, scrambled egg, and atrophic appearances. The vitelliform stage has an egg yolk appearance of subretinal material, whereas the pseudohypopyon stage exhibits a gravitational layering of the yellow subretinal material with a fluid layer above (Fig. 16.3.1). The disease can be multifocal and asymmetric leading to diagnostic uncertainty. CNV can rarely complicate the course in the atrophic state.

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