Kempeneers H P, Dewachter A, Kempeneers G M
Ophthalm. Service, Bruges, Belgium.
Doc Ophthalmol. 1990;76(3):261-72. doi: 10.1007/BF00142685.
Three members of a family in one generation were affected by a pattern dystrophy of the retinal pigment epithelium. The patients present typical hyperpigmented macular RPE lesions in a butterfly-shaped to (macro-)reticular pattern, and were all asymptomatic. Examination of 26 family members in 3 generations suggests autosomal recessive inheritance. The family showed some cases of congenital deutanomaly, and a female subject presented both disorders.
一代人中的一个家族的三名成员患有视网膜色素上皮的斑纹状营养不良。患者表现出典型的色素沉着性黄斑视网膜色素上皮病变，呈蝶形至（大）网状模式，且均无症状。对三代中的26名家族成员进行检查提示为常染色体隐性遗传。该家族有一些先天性绿色盲病例，一名女性同时患有这两种疾病。
