Autosomal recessive juvenile cataract in Hutterites

Ophthalmic Paediatr Genet. 1987 Jun;8(2):119-24. doi: 10.3109/13816818709028527.

Abstract

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.

MeSH terms

  • Alberta
  • Cataract / epidemiology
  • Cataract / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Female
  • Genes, Recessive
  • Genetic Carrier Screening / methods
  • Humans
  • Male
  • Pedigree
  • Religion
  • Saskatchewan