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Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey
Author(s) -
Fuchs J
Publication year - 1997
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1997.tb15176.x
Subject(s) - ectopia lentis , medicine , homocystinuria , pediatrics , danish , marfan syndrome , retrospective cohort study , surgery , biochemistry , chemistry , linguistics , philosophy , amino acid , methionine
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, theestimated prevalence rate ofMS 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.