X-linked recessive congenital stationary night blindness, myopia, and tilted discs.
X-linked recessive congenital stationary night blindness, myopia, and tilted discs.
复制标题
DOI：
10.3928/0191-3913-19810101-05
复制
发表时间：
1981
影响因子：
1.2
通讯作者：
H. M. Hittner;R. Borda;J. Justice
中科院分区：
文献类型：
--
作者：
H. M. Hittner;R. Borda;J. Justice
一个X连锁隐性先天性静止性夜盲、近视和视盘倾斜的家系已被确认。所有受影响的成员都有视力下降、眼球震颤、双眼功能下降的斜视、视野缺陷、具有典型的倾斜视盘综合征的荧光素血管造影表现的眼底异常表现、异常的视网膜电信号以及对图形刺激的异常视觉诱发反应。对专职携带者的类似临床评估显示没有眼部异常。
A family with X-linked recessive congenital stationary night blindness, myopia, and tilted discs has been identified. All affected members have decreased vision, nystagmus, strabismus with decreased binocular function, visual field defects, abnormal fundus appearance with typical fluorescein angiographic findings of tilted disc syndrome, abnormal electroretinograms, and abnormal visual evoked responses to patterned stimuli. Similar clinical evaluation of an obligate carrier revealed no ocular abnormalities.