Article
Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
Investigative ophthalmology & visual science - 1 Jul 2006
Michaelides Michel, Jenkins Sharon A, Brantley Milam A, Andrews Richard M, Waseem Naushin, Luong Vy, Gregory-Evans Kevin, Bhattacharya Shomi S, Fitzke Fred W, Webster Andrew R
Abstract excerpt
PURPOSE: To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis. METHODS: Affected individuals underwent ophthalmic examination, digital color fundus photography, fundus autofluorescence (AF)...
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