Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family.
作者信息
Rosenberg T, Schwartz M, Simonsen S E
机构信息
National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
出版信息
Acta Ophthalmol (Copenh). 1990 Jun;68(3):281-91. doi: 10.1111/j.1755-3768.1990.tb01923.x.
Abstract
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.
摘要
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