Franceschetti A, Fiore C, Korol S, Klein D
Klin Monbl Augenheilkd. 1978 Apr;172(4):484-7.
Ocular albinism with myopia and impaired vision (R.E. 0.2; L.E. 0.6), but without nystagmus, were observed in a 10-year-old girl. The electrophysiological tests indicate, in addition, the presence of a tapetoretinal degeneration. It is assumed that the patient is carrier of two genes, a sex-linked one responsible for albinismus solum fundi and a second one of autosomal-recessive type, responsible for the tapetoretinal degenerartion.
在一名10岁女孩身上观察到患有近视和视力受损(右眼视力0.2;左眼视力0.6)的眼部白化病,但无眼球震颤。此外,电生理测试表明存在视网膜色素变性。据推测,该患者携带两个基因,一个是与性连锁的仅累及眼底白化病相关基因,另一个是常染色体隐性类型的基因,与视网膜色素变性有关。