Notting J G, Pinckers J L
Am J Ophthalmol. 1977 Feb;83(2):234-41. doi: 10.1016/0002-9394(77)90622-5.
Of 24 examined family members, 14 had an undescribed macular dystrophy. There is a clear autosomal-dominant heredity. Essential features of the disease are pigmentary disturbance, cystoid macular edema, wrinkling of the internal limiting membrane, and vitreous body changes. In this family there was an increased incidence of severe hyperopia (greater than or equal to 6 diopters). As the disease progressed color vision deteriorated (type 1 acquired red-green defect), disturbance of the electro-oculogram became more prevalent, and the electroretinogram was normal. These finding differentiate this dystrophy from other diseases with a bull's eye aspect or cystoid macular edema and from vitreoretinal syndromes.
在接受检查的24名家族成员中，有14人患有一种此前未被描述的黄斑营养不良。该病具有明显的常染色体显性遗传特征。其主要特征包括色素紊乱、黄斑囊样水肿、内界膜皱缩以及玻璃体改变。在这个家族中，严重远视（大于或等于6屈光度）的发病率较高。随着病情进展，色觉减退（1型后天性红绿色觉缺陷），眼电图异常变得更为普遍，而视网膜电图正常。这些发现将这种营养不良与其他具有靶心外观或黄斑囊样水肿的疾病以及玻璃体视网膜综合征区分开来。
