伊藤色素减退症中的皮质视觉障碍。

Cortical visual impairment in hypomelanosis of Ito.

作者信息

Scott Andrew, Micallef Caroline, Hale Sarah L, Watts Patrick

机构信息

Department of Ophthalmology, University Hospital of Wales, Cardiff, UK.

出版信息

J Pediatr Ophthalmol Strabismus. 2008 Jul-Aug;45(4):240-1. doi: 10.3928/01913913-20080701-14.

DOI:10.3928/01913913-20080701-14

PMID:18705622

Abstract

Hypomelanosis of Ito is a multisystem disorder that is thought to be due to chromosomal mosaicism. The authors report a case of cortical visual impairment in an infant diagnosed as having hypomelanosis of Ito. Cortical dysplasia was evident on magnetic resonance imaging and its presence in key areas of the visual pathway may explain the patient's cortical visual impairment.

摘要

伊藤色素减退症是一种多系统疾病，被认为是由染色体镶嵌现象引起的。作者报告了一例被诊断为伊藤色素减退症的婴儿出现皮质视觉障碍的病例。磁共振成像显示皮质发育异常，其在视觉通路关键区域的存在可能解释了该患者的皮质视觉障碍。