一个中国家系中的独特表型：晶状体异位合并大隐静脉曲张。
Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein.
机构信息
Department of Ophthalmology, First Affiliated Hospital of Second Military Medical University, Shanghai, China.
出版信息
Eye (Lond). 2010 Oct;24(10):1614-7. doi: 10.1038/eye.2010.82. Epub 2010 Jun 4.
OBJECTIVE
To report a Chinese family affected with both ectopia lentis and varicose great saphenous vein.
DESIGN
Observational pedigree report.
PARTICIPANTS
The family with a total of 53 members in five generations. In the kindred there were 16 affected adults (including 6 deceased), of which 7 were male and 9 were female.
MAIN OUTCOME MEASURES
Patients in this family showed an autosomal dominant trait of ectopia lentis and varicose great saphenous vein, occurring in four successive generations. The onset ages for lens dislocation were between 38 and 52 years. No cardiovascular abnormality was observed. Four patients underwent intracapsular lens extraction surgery.
CONCLUSIONS
The phenotype of this family showed similarities with Marfan-related disorders. This is a unique phenotype of ectopia lentis with varicose great saphenous vein.
目的
报道一个同时患有晶状体异位和大隐静脉曲张的中国家族。
设计
观察性家系报告。
参与者
该家族共有五代 53 名成员。家系中共有 16 名成年受累者（包括 6 名已故者），其中男性 7 名，女性 9 名。
主要观察指标
该家族患者表现出晶状体异位和大隐静脉曲张的常染色体显性遗传特征，连续四代发病。晶状体脱位的发病年龄为 38~52 岁。未观察到心血管异常。4 名患者接受了晶状体囊内摘出术。
结论
该家系的表型与马凡综合征相关疾病相似。这是一种具有大隐静脉曲张的独特晶状体异位表型。
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