Article
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2007
Boon Camiel J F, Klevering B Jeroen, den Hollander Anneke I, Zonneveld Marijke N, Theelen Thomas, Cremers Frans P M, Hoyng Carel B
Abstract excerpt
OBJECTIVE: To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions. METHODS: All patients and, if possible, affected family members underwent an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 gene were screened for mutations in the peripherin/RDS...
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