Congenital ectopia lentis. A Danish national survey

Acta Ophthalmol Scand. 1998 Feb;76(1):20-6. doi: 10.1034/j.1600-0420.1998.760105.x.


Purpose: To elucidate demographic and nosologic characteristics of congenital ectopia lentis (ECL) in Denmark.

Methods: A register of affected persons was established based on information provided from medical records and files in a nation-wide retrospective study, the Danish ECL-study.

Results: Three hundred and ninety-six cases (197 males, 199 females) with ECL were included in the study. By January 1st, 1993, the estimated prevalence rate of ECL was 6.4/100,000. The estimated average point prevalence rate at birth 1976-85 was 0.83/10,000 live born. Only in 69% of the cases (274/396) was a nosologic classification possible, based on preexisting information about familial occurrence, systemic and ocular findings: Marfan syndrome was found in 68.2% of these (187/274), ectopia lentis et pupillae in 21.2%, simple dominant ectopia lentis in 8.0%, homocystinuria in 1.1%, sulfite oxidase deficiency and Weill-Marchesani syndrome in 0.7% each. In the remaining 31% (122/396) a nosologic diagnosis could not be established.

Conclusion: The majority of affected persons have congenital ectopia lentis as a manifestation of a systemic disease. It is therefore essential to evaluate ECL patients systemically with a general physical examination, a metabolic screening, and an echocardiography as a minimum, in order to make a nosologic diagnosis and to prevent potentially life-threatening systemic complications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Connective Tissue Diseases / complications
  • Connective Tissue Diseases / epidemiology
  • Denmark / epidemiology
  • Ectopia Lentis / epidemiology*
  • Ectopia Lentis / etiology
  • Ectopia Lentis / genetics
  • Female
  • Health Surveys
  • Homocystinuria / complications
  • Homocystinuria / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Marfan Syndrome / complications
  • Marfan Syndrome / epidemiology
  • Middle Aged
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency
  • Prevalence
  • Registries
  • Retrospective Studies


  • Oxidoreductases Acting on Sulfur Group Donors