title: Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey.
abstract: In order to elucidate demographic and nosologic characteristics of Marfan syndrome (MS) and other systemic disorders associated with congenital ectopia lentis (ECL) in Denmark, a register of affected persons was established in a nationwide retrospective study. Three hundred and forty patients with MS (180M, 160F) were registered. By January 1, 1993, the estimated prevalence rate of MS was 4.6/100,000. An estimated average birth rate of 0.96/10,000 live born was found. The mean age at death was decreased (38 +/- 18 y) mainly due to cardiovascular complications. Correspondingly, a median cumulative probability of survival of 57 y (males) and 58 y (females) was found. Only seven patients with ECL as manifestation of other systemic disorders were diagnosed in the material, i.e. three patients with homocystinuria, two patients with Weill-Marchesani syndrome, and another 2 patients with sulphite oxidase deficiency. In a further 122 cases with ECL a nosologic diagnosis could not be established due to unavailable or insufficient information. This group may comprise patients with MS and other systemic disorders as well as patients with non-systemic ECL. In retrospect, the differential diagnostic activity for patients with congenital ectopia lentis has been insufficient during the last few decades and a common protocol for diagnosis, control and treatment of ECL is needed.
authors.affiliation: The National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Fuchs
mesh_terms: D000293:Adolescent; D000328:Adult; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003718:Denmark / Q000453:epidemiology; D004479:Ectopia Lentis / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality; D005260:Female; D006306:Health Surveys; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000453:epidemiology* / Q000235:genetics / Q000401:mortality; D008875:Middle Aged; D012042:Registries / Q000706:statistics & numerical data; D012189:Retrospective Studies; D016019:Survival Analysis