[Blue sclerae syndrome].
The medical history of a 46-year-old female patient with dark-blue sclerae showed repeated fractures of the extremity skeleton and clavicular following minor trauma up to the age of 15. The sclerae indicated osteogenesis imperfecta (OI), which leads to disrupted collagen synthesis due to various mutations of the type-1 procollagen gene, which in turn leads to brittle bones with reduced bone density and greater susceptibility to fracture. In OI, distinction is made between varying clinical types which show differing degrees of severity. Bisphosphonates, which can reduce significantly increased bone turnover, are a very promising therapy approach.
Schäfer
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Klinik für Innere Medizin I, Medizinische Fakultät der Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Strasse 40, 06120 Halle. christoph.schaefer@medizin.uni-halle.de
Keysser
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D002869:Chromosome Aberrations; D024042:Collagen Type I / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000175:diagnosis*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000209:etiology* / Q000235:genetics; D017354:Point Mutation; D015422:Scleral Diseases / Q000209:etiology* / Q000235:genetics
D024042:Collagen Type I