Puech B, Hache J C, Turut P, François P
Hôpital Régional de Lille, France.
Ophthalmologica. 1989;199(4):146-57. doi: 10.1159/000310033.
Two families showed a retinal pigment epithelial dystrophy characterized by an X-shaped yellowish macular lesion and numerous flavimaculatus retinal flecks. Nine members were variously affected. The condition was bilateral, had a dominant inheritance and started in middle age with a slow-developing macular lesion. Visual functions were often minimally disturbed for 2 or 3 decades. The flavimaculatus flecks which differed in number appeared only as secondary phenomena yet increased in number and size. At the onset of the disease, the ERG and EOG as well as colour vision were normal and became altered only in the course of a very slow process.
两个家族表现出一种视网膜色素上皮营养不良，其特征为X形黄斑部黄色病变以及众多的黄斑部视网膜黄色斑点。九名成员受到不同程度影响。该病为双侧性，呈显性遗传，中年起病，黄斑病变发展缓慢。视觉功能通常在20或30年内仅有轻微损害。数量各异的黄斑部黄色斑点仅作为继发现象出现，但数量和大小会增加。疾病发作时，视网膜电图（ERG）、眼电图（EOG）以及色觉均正常，仅在非常缓慢的病程中才会发生改变。
