Autosomal recessive juvenile cataract in Hutterites.

Ophthalmic Paediatr Genet

Department of Ophthalmology, University of Alberta, Edmonton, Canada.

Published: June 1987

Autosomal recessive inheritance of juvenile cataract is described amongst several related sibships of Lehrerleut Hutterites. The main features of the cataract include onset between three and seven years of age; rapid progression to maturity within one to three months; normal intelligence; no systemic associations, and no urinary reducing substances and normal erythrocyte galactokinase activity. Genetic analysis demonstrates the close relationship between parents of affected sibships with a coefficient of inbreeding of affected sibships of 0.0512. Estimates of heterozygote frequency within Lehrerleut Hutterites at 0.128 indicate that if current inbreeding practice continues additional cases can be expected.

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Source
http://dx.doi.org/10.3109/13816818709028527DOI Listing

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