Lambert S R, Taylor D, Kriss A
Department of Ophthalmology, Hospital for Sick Children, London, England.
Surv Ophthalmol. 1989 Nov-Dec;34(3):173-86. doi: 10.1016/0039-6257(89)90101-x.
Many retinal disorders present during infancy with nystagmus, decreased vision, and normal-appearing fundi, but an abnormal ERG. The most common of these disorders are Leber's congenital amaurosis, achromatopsia, and congenital stationary night-blindness. Other disorders with similar ocular manifestations may be associated with a variety of life-threatening systemic abnormalities. This review describes the clinical, electrophysiological, and laboratory findings that can be used to distinguish among these conditions.
许多视网膜疾病在婴儿期出现眼球震颤、视力下降和眼底外观正常但视网膜电图异常的症状。这些疾病中最常见的是莱伯先天性黑矇、色盲和先天性静止性夜盲。其他具有类似眼部表现的疾病可能与各种危及生命的全身异常有关。本综述描述了可用于区分这些病症的临床、电生理和实验室检查结果。