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J.E. Craig, K. Rattray, M. Troski, D.A. Mackey, J. Gecz, K. Friend; A Locus for Congenital Cataract Maps to Chromosome Xq . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1264.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe the phenotype of an Australian congenital cataract pedigree with X linked recessive inheritance and perform genetic localisation. Methods: Male first cousins were referred to the same ophthalmologist for cataract surgery as teenagers and were noted to have similar unusual lens morphology. The pedigree was further investigated with clinical examination of 23 individuals in 3 generations revealing a total of 5 affected males consistent with X linked recessive inheritance. DNA was obtained for linkage studies. Results: The index case had bilateral cataracts diagnosed at age 4 years, requiring surgery at age 16. The lens opacity consisted of mild diffuse nuclear opacification with prominent sutural involvement. A male cousin had similar cataracts also requiring surgery. Three maternal uncles were also affected. One remained phakic with milder cataracts of lamellar morphology without sutural involvement. Obligate female carriers have no lens opacity. Orthodontic abnormalities were also found in some family members. Linkage analysis with a series of markers spanning the X chromosome excluded linkage to the Nance-Horan Syndrome (NHS) locus at Xp22. Evidence for significant linkage (Lod >2) with no recombination is presented for a series of markers on Xq23-q26. Conclusion: A locus for X linked recessive congenital cataract of variable morphology is confined on Xq. Further work is required to identify the responsible gene.
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