Hermsen V M, Judisch G F
Ophthalmologica. 1984;189(1-2):69-72. doi: 10.1159/000309388.
7 affected and 4 normal individuals from three consecutive generations of a family with central areolar pigment epithelial dystrophy were examined. The pedigree was indicative of an autosomal dominant disorder with variable expression. The macular changes varied from numerous small drusen-like defects to large colobomatous appearing lesions while the visual acuities ranged from 6/4 to 3/120. Some of those with excellent visual acuity had small central scotomata. Urinary metabolic screening, plasma amino acid levels and 24-hour urinary amino acid levels were normal.
对一个患有中心性视网膜色素上皮营养不良的家族连续三代中的7名患者和4名正常人进行了检查。系谱表明这是一种具有可变表达的常染色体显性疾病。黄斑病变从众多小的玻璃膜疣样缺陷到巨大的缺损样病变不等，而视力范围从6/4到3/120。一些视力极佳的患者有小的中心暗点。尿液代谢筛查、血浆氨基酸水平和24小时尿氨基酸水平均正常。
