Possible autosomal-recessive ocular coloboma

Am J Med Genet. 1981;9(3):189-93. doi: 10.1002/ajmg.1320090304.


Ocular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait. Possible autosomal recessive inheritance is suggested by the presence of colobomatous malformations in a brother and sister whose parents have apparently normal eyes. Possible genetic heterogeneity of isolated ocular coloboma makes genetic counseling in sporadic cases difficult since cases may be due to autosomal dominant and autosomal recessive mutations and nongenetic causes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Coloboma / genetics*
  • Cysts / genetics*
  • Female
  • Genes, Recessive*
  • Humans
  • Infant
  • Iris / abnormalities*
  • Male
  • Orbital Diseases / genetics*
  • Pedigree