title: Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait.
abstract: A family from Turkey with congenital ectopia lentis, likely occurring as an autosomal recessive trait, is presented. No systemic disorders such as homocysteinuria, Marfan's or Weill-Marchesani's syndromes were found in any of the patients. However, all patients except one were less than 2 years old when first examined so that lens luxation must have happened very early in life. Besides almost total lack of zonular threads the patients presented anomalies of ocular dimensions with increased corneal diameters and axial lengths, and in several cases glaucomatous distension of the optic discs could also be found. A possible explanation for these buphthalmic changes and their relation to lens luxation taking place very early in life is proposed. The importance of early diagnosis and treatment is discussed.
authors.affiliation: University Eye Department, Rigshospitalet, Copenhagen, Denmark.
authors.forename: K
authors.initials: K
authors.lastname: Bjerrum
authors.forename: S V
authors.initials: SV
authors.lastname: Kessing
mesh_terms: D002648:Child; D003241:Consanguinity; D004479:Ectopia Lentis / Q000235:genetics* / Q000601:surgery; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006871:Hydrophthalmos / Q000235:genetics* / Q000601:surgery; D007223:Infant; D007903:Lens Capsule, Crystalline / Q000648:ultrastructure; D008022:Ligaments / Q000648:ultrastructure; D008297:Male; D010375:Pedigree