Article
A characteristic phenotypic retinal appearance in Norrie disease.
Retina (Philadelphia, Pa.) - 1 Feb 2007
Drenser Kimberly A, Fecko Alice, Dailey Wendy, Trese Michael T
Abstract excerpt
PURPOSE: To describe a striking retinal finding that the authors have only seen in Norrie disease eyes and to determine if a particular genotype corresponds to this dramatic presentation. METHODS: This is a retrospective, interventional case report of four patients seen in the clinic over a 1-year period. All patients had analysis of the Norrie gene by direct sequencing. RESULTS: All patients presented with a...
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