Article
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
Investigative ophthalmology & visual science - 1 Jul 2007
Mullins Robert F, Kuehn Markus H, Faidley Elizabeth A, Syed Nasreen A, Stone Edwin M
Abstract excerpt
PURPOSE: Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin. On clinical examination, Best disease is characterized by an elevated lesion beneath the neurosensory retina, resembling an egg yolk. The lesions in Best disease are primarily restricted to the macula, a small region of the retina...
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