Ectopia lentis and central serous chorioretinopathy in a patient with a marfanoid habitus. A case report.
نویسندگان
چکیده
We report a case of ectopia lentis and central serous chorioretinopathy in a young female patient with several manifestations of Marfan syndrome in the skeletal, cardiovascular and dermatological systems. We can't conclude however that these two ocular abnormalities are linked.
منابع مشابه
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families
PURPOSE To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus. METHODS Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the families as well as 100 h...
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متن کاملIdentification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
BACKGROUND Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phe...
متن کاملSCIENTIFIC CORRESPONDENCE Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus
Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant ph...
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Rheumatologists have long considered that joint hypermobility is inherited. The familial aggregation is striking and the pattern of inheritance strongly points to an autosomal dominant mode. The first comprehensive description of symptomatic joint hypermobility in the rheumatological literature is attributed to Kirk, Ansell and Bywaters in 1967 [1]. They coined the term ‘hypermobility syndrome’...
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ورودعنوان ژورنال:
- Bulletin de la Societe belge d'ophtalmologie
دوره 290 شماره
صفحات -
تاریخ انتشار 2003