Rosenberg T, Schwartz M, Simonsen S E
National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
Acta Ophthalmol (Copenh). 1990 Jun;68(3):281-91. doi: 10.1111/j.1755-3768.1990.tb01923.x.
A reinvestigation of a Danish family with X-linked inherited congenital nystagmus through 6 generations revealed a congenital stationary retinal dysfunction syndrome with characteristics of both incomplete congenital stationary night blindness and Aland Eye Disease. In spite of rather uniform electrophysiological findings in our patients, this retinal disorder which affects both cones and rods demonstrated considerable intrafamilial diversity with respect to visual acuity, nystagmus, refractive state and fundus pigmentation.
对一个患有X连锁遗传性先天性眼球震颤的丹麦家族进行的六代再研究发现了一种先天性静止性视网膜功能障碍综合征,其具有不完全先天性静止性夜盲和阿兰岛眼病的特征。尽管我们的患者电生理检查结果相当一致,但这种影响视锥细胞和视杆细胞的视网膜疾病在视力、眼球震颤、屈光状态和眼底色素沉着方面表现出显著的家族内差异。