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Congenital ectopia lentis and secondary buphthalmos likely occurring as an autosomal recessive trait. 1991

K Bjerrum, and S V Kessing
University Eye Department, Rigshospitalet, Copenhagen, Denmark.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007903 Lens Capsule, Crystalline The thin noncellular outer covering of the CRYSTALLINE LENS composed mainly of COLLAGEN TYPE IV and GLYCOSAMINOGLYCANS. It is secreted by the embryonic anterior and posterior epithelium. The embryonic posterior epithelium later disappears. Capsule, Crystalline Lens,Capsules, Crystalline Lens,Crystalline Lens Capsule,Crystalline Lens Capsules,Lens Capsules, Crystalline
D008022 Ligaments Shiny, flexible bands of fibrous tissue connecting together articular extremities of bones. They are pliant, tough, and inextensile. Interosseal Ligament,Interosseous Ligament,Interosseal Ligaments,Interosseous Ligaments,Ligament,Ligament, Interosseal,Ligament, Interosseous
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D004479 Ectopia Lentis Congenital displacement of the lens resulting from defective zonule formation. Lentis, Ectopia
D005260 Female Females
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition

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