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伴有近视和眼球震颤的X连锁先天性静止性夜盲症,无夜盲的临床主诉。

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia.

作者信息

Price M J, Judisch G F, Thompson H S

机构信息

Department of Ophthalmology, Boston University, Massachusetts.

出版信息

J Pediatr Ophthalmol Strabismus. 1988 Jan-Feb;25(1):33-6. doi: 10.3928/0191-3913-19880101-09.

Abstract

Seven of eight patients presented initially or were followed for decreased acuity and nystagmus without complaints of night blindness. The diagnosis of congenital stationary night blindness was established with electroretinogram and dark adaptation testing. Careful electrodiagnostic testing is needed to provide accurate genetic counseling. Two patients showed pupillary constriction to darkness which is a sign of retinal disease in young patients.

摘要

8名患者中有7名最初出现或随后出现视力下降和眼球震颤,无夜盲主诉。通过视网膜电图和暗适应测试确诊为先天性静止性夜盲。需要进行仔细的电诊断测试以提供准确的遗传咨询。两名患者出现对黑暗的瞳孔收缩,这是年轻患者视网膜疾病的一个迹象。

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