Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy

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

Authors

Adrian Fung¹, Suzanne Yzer², Rando Allikmets³

Affiliations

¹ Sydney Eye Hospital, Sydney, New South Wales, Australia2Save Sight Institute, University of Sydney, New South Wales, Australia.
² Rotterdam Eye Hospital, Rotterdam, the Netherlands.
³ Department of Ophthalmology, Columbia University, New York, New York 5Department of Pathology and Cell Biology,Columbia University, New York, New York.

PMID: 24337562
DOI: 10.1001/jamaophthalmol.2013.5363

No abstract available

Publication types

Letter
Comment

MeSH terms

Chloride Channels / genetics*
Eye Proteins / genetics*
Female
Humans
Male
Mutation, Missense*
Retinoschisis / genetics*
Vitelliform Macular Dystrophy / genetics*

Substances

Chloride Channels
Eye Proteins