Grøndahl J
Acta Ophthalmol (Copenh). 1987 Apr;65(2):231-6.
A Norwegian family is reported in which two sisters and one brother all had retinitis pigmentosa with unusually late onset of clinical symptoms. The proband was a 64 year old woman who had experienced progressive visual field defect since the age of 57. She had near normal dark adaptation and an extinguished electroretinogram. Her affected sister, 61 years old, and her brother, aged 57, had no or mild subjective symptoms, respectively. Fundus photographs and the results of electrophysiological tests, together with family data indicating autosomal recessive inheritance, are presented.
据报道,有一个挪威家庭,其中两姐妹和一个兄弟均患有色素性视网膜炎,临床症状出现异常延迟。先证者是一位64岁女性,自57岁起出现进行性视野缺损。她的暗适应接近正常,但视网膜电图熄灭。她患病的姐姐61岁,弟弟57岁,分别没有或仅有轻微的主观症状。本文展示了眼底照片、电生理测试结果以及表明常染色体隐性遗传的家族数据。