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Marfan Syndrome Presenting with Bilateral Retinal Detachment

机译:马凡氏综合征伴双侧视网膜脱离

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Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal detachment which is a potentially dangerous manifestation for its sight threatening nature .We report a case where a 17 year old male developed sudden blindness due to spontaneous bilateral retinal detachment. Examination revealed features of Marfan syndrome and was stamped as a case of Marfan syndrome by Ghent criteria. The point to stress upon is that a young male developing spontaneous retinal detachment, a diagnosis of underlying Marfan syndrome should be kept in mind if appropriate clinical stigmata are present.
机译:马凡氏综合征是结缔组织的常染色体显性全身性疾病。马凡氏综合症影响大多数器官和组织,特别是骨骼,肺,眼睛,心脏和大血管。眼睛受累可能以视网膜脱离的形式出现,这是一种潜在的危险表现,因为它会威胁视力。我们报道了一名17岁的男性因自发性双边视网膜脱离而突然失明的情况。体检发现了马凡氏综合症的特征,根特标准将其标记为马凡氏综合症的一例。需要强调的一点是,如果存在适当的临床烙印,应牢记年轻的男性发生自发性视网膜脱离,诊断潜在的马凡氏综合症。

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