Aniridia. A review

Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x.

Abstract

Aniridia occurs as a phenotypically heterogeneous condition which may be inherited as an autosomal dominant disorder or as part of several systemic syndromes. It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. Aniridia may occur in a highly penetrant form in association with other ocular abnormalities with poor vision or in a more variable form with good vision. The recognition of a child with sporadic aniridia should alert physicians to the increased risk of development of Wilms' tumor.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X
  • Diagnosis, Differential
  • Ectopia Lentis / genetics
  • Genes, Dominant
  • Glaucoma / genetics
  • Humans
  • Iris / abnormalities*
  • Iris / embryology
  • Iris / pathology
  • Kidney Neoplasms / genetics
  • Phenotype
  • Syndrome
  • Wilms Tumor / genetics