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Abstract #47822 Published in IGR 13-4
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma cosegregating in a family
Mackey DA; Hewitt AW; Ruddle JB; Vote B; Buttery RG; Toomes C; Metlapally R; Li YJ; Tran-Viet KN; Malecaze FMolecular Vision 2011; 17: 2118-2128
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 severe retinal detachment while five others had dragged retinal vessels. Seven individuals had POAG. Seven individuals had myopia in at least one eye (less-than or equal to)-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. (copyright) 2011 Molecular Vision.
D. A. Mackey. Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, 2 Verdun St., Nedlands, Perth WA 6009, Australia. Email: D.Mackey@utas.edu.au
Classification:
9.4.4.2 Glaucomas associated with cataracts (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
8.1 Myopia (Part of: 8 Refractive errors in relation to glaucoma)
9.4.5.5 Other (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.5 Glaucomas associated with disorders of the retina, choroid and vitreous)
