Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Journal Article (Journal Article)

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 ≤-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.

Full Text

Duke Authors

Cited Authors

  • Mackey, DA; Hewitt, AW; Ruddle, JB; Vote, B; Buttery, RG; Toomes, C; Metlapally, R; Li, YJ; Tran-Viet, KN; Malecaze, F; Calvas, P; Rosenberg, T; Guggenheim, JA; Young, TL

Published Date

  • 2011

Published In

Volume / Issue

  • 17 /

Start / End Page

  • 2118 - 2128

PubMed ID

  • 21850187

Pubmed Central ID

  • PMC3156798

Electronic International Standard Serial Number (EISSN)

  • 1090-0535


  • eng

Conference Location

  • United States