Journal article
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma cosegregating in a family
DA Mackey, AW Hewitt, JB Ruddle, B Vote, RG Buttery, C Toomes, R Metlapally, YJ Li, KN Tran-Viet, F Malecaze, P Calvas, T Rosenberg, JA Guggenheim, TL Young
Molecular Vision | MOLECULAR VISION | Published : 2011
Abstract
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 were closely related and subsequent examination revealed 11 other family members with some or all of the associated disorders. Results: Twelve individuals had CC thought to be of childhood onset, with one child demonstrating progressive lenticular opacification. One individual had se..
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Awarded by National Eye Institute
Funding Acknowledgements
We thank the family for their cooperation, Maree Ring for genealogical assistance and Tania Minehan, Lisa Kearns, Sandra Staffieri, and Patricia Coleman for assistance in examining patients and collecting specimens. This research was supported by the National Institutes of Health Grant EY014685 and Research to Prevent Blindness Inc. (T.L.Y.) and the Ophthalmic Research Institute of Australia. C. Toomes is a Royal Society University Research Fellow (URF).