Ectopia lentis et pupillae: the genetic aspects and differential diagnosis

J Med Genet. 1991 Nov;28(11):791-4. doi: 10.1136/jmg.28.11.791.

Abstract

Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Ectopia Lentis / diagnosis
  • Ectopia Lentis / genetics*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics
  • Genes, Recessive
  • Humans
  • Infant
  • Iris / abnormalities*
  • Male