To the Editor We read with great interest and surprise the recent case report by Silva et al1 describing 2 siblings who presented with bilateral macular retinoschisis and serous retinal detachments. Genetic testing detected 1 new, likely disease-associated mutation, the p.Glu213Lys variant, in both affected siblings. Autosomal dominant Best vitelliform macular dystrophy (BVMD) with an unusual phenotype was therefore diagnosed.
Fung A, Yzer S, Allikmets R. Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy. JAMA Ophthalmol. 2013;131(12):1651. doi:10.1001/jamaophthalmol.2013.5363