Pihko H, Lappi M, Raitta C, Sainio K, Valanne L, Somer H, Santavuori P
Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, Finland.
Brain Dev. 1995 Jan-Feb;17(1):57-61. doi: 10.1016/0387-7604(94)00101-3.
We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.
我们报告了20例隐性遗传性肌肉-眼-脑（MEB）疾病患者的眼部检查结果，其特征为严重视力减退、智力发育迟缓、脑回增厚-多小脑回型神经元迁移障碍和先天性肌营养不良。眼部检查结果包括-6至-27 D的近视、视网膜变性和视神经萎缩。5例婴儿患有先天性青光眼，9例儿童出现青少年白内障。70%的患者视觉诱发电位异常增高（>50 μV）且延迟。12例患者视网膜电图消失。这些变化在长达20年的随访期间呈进行性发展。
