Article
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.
Molecular vision - 1 Jan 2011
Mackey D A, Hewitt A W, Ruddle J B, Vote B, Buttery R G, Toomes C, Metlapally R, Li Y J, Tran-Viet K N, Malecaze F, Calvas P, Rosenberg T, Guggenheim J A, Young T L
Abstract excerpt
PURPOSE: To describe an Australian pedigree of European descent with a variable autosomal dominant phenotype of: pediatric cortical cataract (CC), asymmetric myopia with astigmatism, familial exudative vitreoretinopathy (FEVR), and primary open-angle glaucoma (POAG). METHODS: Probands with CC, FEVR, and POAG were enrolled in three independent genetic eye studies in Tasmania. Genealogy confirmed these individuals...
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