魏尔-马歇沙尼综合征：一例罕见病例报告。
Weill- Marchesani syndrome: a rare case report.
作者信息
Puri L R, Sharma H, Aryal S
机构信息
Sagarmatha Choudhary Eye Hospital, Lahan, Nepal.
出版信息
Nepal J Ophthalmol. 2012 Jul-Dec;4(2):336-8. doi: 10.3126/nepjoph.v4i2.6558.
OBJECTIVE
To describe the presenting features of Weill-Marchesani syndrome
CASE
A 22-year-old man presented with high myopia and progressive visual disturbance. He was of short stature and had brachydactyly. His initial Snellen best corrected visual acuity (BCVA) was 6/24 in his right eye and 6/12 in his left eye. Slit lamp examination revealed a sub-luxated micro-spherophakic lens. The patient was diagnosed with Weill-Marchesani syndrome.
CONCLUSION
Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.
目的
描述韦尔-马歇桑尼综合征的临床表现。
病例
一名22岁男性，表现为高度近视和进行性视力障碍。他身材矮小且有短指畸形。其初始Snellen最佳矫正视力（BCVA）右眼为6/24，左眼为6/12。裂隙灯检查发现晶状体半脱位且呈小晶状体球形。该患者被诊断为韦尔-马歇桑尼综合征。
结论
韦尔-马歇桑尼综合征可在身材矮小且有短指畸形的患者中表现为进行性近视。
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