Wille H
Acta Ophthalmol (Copenh). 1980;58(1):148-57. doi: 10.1111/j.1755-3768.1980.tb04579.x.
A family with vitreo-tapeto-retino-choroidal degeneration is presented. Five members of a sibship of nine and their mother are affected. Retinal changes in the form of macular degeneration and peripheral preretinal membranes are the most prominent features. Other manifestations are vitreous degeneration, optic atrophy, equatorial pigmentation, and complicated cataract. The heredity is probably autosomal dominant. Comparisons are made with the well-known hereditary vitreo-retinal degenerations, in particular with Wagner's disease. Above all, the extensive macular degeneration in two of the patients, involving the retina, the pigment epithelium, and the choriocapillaris, distinguishes the present disorder from the above-mentioned.
本文报告了一个患有玻璃体-脉络膜视网膜变性的家族。一家九个孩子中有五个及其母亲患病。黄斑变性和周边视网膜前膜形式的视网膜改变是最突出的特征。其他表现包括玻璃体变性、视神经萎缩、赤道部色素沉着和并发性白内障。遗传方式可能为常染色体显性遗传。文中将该疾病与著名的遗传性玻璃体视网膜变性,尤其是与瓦格纳病进行了比较。最重要的是,两名患者出现的广泛黄斑变性累及视网膜、色素上皮和脉络膜毛细血管,这使得当前疾病有别于上述疾病。