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Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family
journal contribution
posted on 2023-05-17, 10:20 authored by David MackeyDavid Mackey, Alexander HewittAlexander Hewitt, Ruddle, JB, Vote, B, Buttery, RG, Toomes, C, Metlapally, R, Li, YJ, Tran-Viet, KN, Malecaze, F, Calvas, P, Rosenberg, T, Guggenheim, JA, Young, TLPurpose: 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 severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye ¡Ü-3 Diopters. DNA testing excluded mutations in myocilin, trabecular meshwork inducible glucocorticoid response (MYOC) and tetraspanin 12 (TSPAN12). Haplotype analysis excluded frizzled family receptor 4 (FZD4) and low density lipoprotein receptor-related protein 5 (LRP5), but only partly excluded EVR3. Multipoint linkage analysis revealed multiple chromosomal single-nucleotide polymorphisms (SNPs) of interest, but no statistically significant focal localization. Conclusions: This unusual clustering of ophthalmic diseases suggests a possible single genetic cause for an apparently new cataract syndrome. This family¡¯s clinical ocular features may reflect the interplay between retinal disease with lenticular changes and axial length in the development of myopia and glaucoma.
History
Publication title
Molecular VisionVolume
17Pagination
2118-2128ISSN
1090-0535Department/School
Tasmanian School of MedicinePublisher
Molecular VisionPlace of publication
C/O Jeff Boatright, Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322Rights statement
Copyright 2011 Molecular VisionRepository Status
- Restricted