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Comment & Response
December 2013

Clinical and Genetic Misdiagnosis of Autosomal Recessive Bestrophinopathy

Author Affiliations
  • 1Sydney Eye Hospital, Sydney, New South Wales, Australia
  • 2Save Sight Institute, University of Sydney, New South Wales, Australia
  • 3Rotterdam Eye Hospital, Rotterdam, the Netherlands
  • 4Department of Ophthalmology, Columbia University, New York, New York
  • 5Department of Pathology and Cell Biology,Columbia University, New York, New York

Copyright 2013 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Ophthalmol. 2013;131(12):1651. doi:10.1001/jamaophthalmol.2013.5363

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.

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