Newell F W, Diddie K R
Klin Monbl Augenheilkd. 1977 Nov;171(5):731-4.
A 9-year-old boy, the product of a consanguineous marriage, had visual acuity of 6/60, pendular nystagmus, and a bull's-eye type of macular atrophy. A sensorineural deafness was present. The photopic electroretinogram was extinguished; the electro-oculogram was normal. There was associated mental retardation and failure of inhibition of the pituitary gland by high levels of circulating thyroid hormone. Two older siblings although not examined, had similar endocrine abnormalities. Non-involvement of three half-siblings suggested autosomal recessive inheritance.
一名9岁男孩，系近亲结婚所生，视力为6/60，有摆动性眼球震颤和靶心型黄斑萎缩。存在感音神经性耳聋。明视视网膜电图熄灭；眼电图正常。伴有智力发育迟缓以及高水平循环甲状腺激素对垂体抑制功能的缺失。两个哥哥姐姐虽未接受检查，但有类似的内分泌异常。三个同父异母或同母异父的兄弟姐妹未受影响，提示为常染色体隐性遗传。
