Ponjavic V, Andreasson S, Tranebjaerg L, Lubs H A
Department of Ophthalmology, University Hospital of Lund, Sweden.
Acta Ophthalmol Scand. 1996 Dec;74(6):632-5. doi: 10.1111/j.1600-0420.1996.tb00751.x.
A family with a newly detected X-linked syndrome including sensorineural deafness, mental retardation, dystonia and blindness was examined with full-field electroretinography in order to order to find out if the blindness was caused by a retinal degeneration. Six affected males and 2 obligate carriers showed no signs of retinal degeneration. One of 7 affected males had central areolar choroidal dystrophy confirmed by central scotomas in visual fields and an electroretinographic pattern consisting of an attenuated amplitude as well as a prolonged implicit time of the cone b-wave on stimulation with 30 Hz flickering white light.
一个新发现的X连锁综合征家族，包括感音神经性耳聋、智力迟钝、肌张力障碍和失明，为了确定失明是否由视网膜变性引起，对其进行了全视野视网膜电图检查。6名患病男性和2名肯定携带者未显示视网膜变性迹象。7名患病男性中有1名经视野中心暗点及30Hz闪烁白光刺激时视锥细胞b波振幅衰减和隐含时间延长的视网膜电图模式确诊为中心性晕轮状脉络膜营养不良。
