Fiore C, Ricci A
Arch Ophtalmol (Paris). 1976 Feb;36(2):127-36.
In a sister and brother we found a case of vitreo-tapeto-retinal degeneration (macular retinoschisis, night-blindness, vitreous micro-fibrillose degeneration, abolished E.R.G., very pathological E.O.G.) and a "fruste" form of tapeto-retinal degeneration (De Lange's curve and flicker-E.R.G. both modified, E.R.G. subnormal and slight pathological changes in adaptometry). The father of these two patients suffered from tapeto-retinal degeneration which had caused complete blindness. Basing their suppositions on their personal experience and medical literature, the authors believe that the type of vitreo-retinal degeneration is best determined after examination of the mode of hereditary transmission. In the family which is presented, they believe that it is a form of Goldmann-Favre's disease with pseudo-dominance.
在一对姐弟中,我们发现了一例玻璃体 - 脉络膜视网膜变性(黄斑视网膜劈裂、夜盲、玻璃体微纤维变性、视网膜电图消失、眼电图非常异常)以及一种“顿挫型”脉络膜视网膜变性(德朗热曲线和闪烁视网膜电图均有改变,视网膜电图低于正常,验光检查有轻微病理变化)。这两名患者的父亲患有脉络膜视网膜变性,已导致完全失明。基于他们的个人经验和医学文献,作者认为玻璃体视网膜变性的类型最好在检查遗传传递方式后确定。在这个所呈现的家族中,他们认为这是一种具有假显性的戈德曼 - 法夫尔病。