Noble K G, Carr R E
Arch Ophthalmol. 1978 May;96(5):818-21. doi: 10.1001/archopht.1978.03910050424004.
This report is a retrospective study of 33 patients seen over a 16-year period in whom a diagnosis of Leber's congenital amaurosis was made. The findings of an autosomal recessive heredity in 33%, connatal blindness (visual acuity less than 20/200) in 95%m nystagmus in 75%, and a markedly abnormal electroretinogram in 100% is in agreement with the findings of previously published large series. The difficulty in making the correct diagnosis initially was related to the wide variety of fundus findings and a high association (30%) of central nervous system disease. In the differential diagnosis of connatal blindness, only Leber's congenital amaurosis exhibits an absent or markedly diminished response on electroretinogram. The histopathologic findings in a 6-month-old infant with this disorder are compared with those of previously published reports.
本报告是一项回顾性研究，对16年间诊治的33例被诊断为莱伯先天性黑矇的患者进行了分析。研究发现，33%的患者存在常染色体隐性遗传，95%的患者为先天性失明（视力低于20/200），75%的患者有眼球震颤，100%的患者视网膜电图明显异常，这些结果与先前发表的大型系列研究结果一致。最初做出正确诊断存在困难，这与眼底表现的多样性以及中枢神经系统疾病的高关联度（30%）有关。在先天性失明的鉴别诊断中，只有莱伯先天性黑矇在视网膜电图上表现为无反应或反应明显减弱。本文将一名患有该疾病的6个月大婴儿的组织病理学 findings 与先前发表的报告进行了比较。 （注：原文中“histopathologic findings”未完整给出具体内容，暂保留英文）
