一名十岁女孩的退行性眼部视网膜白化病（作者译）
[Degenerative ocular retinal albinism in a girl ten years old (author's transl)].
作者信息
Franceschetti A, Fiore C, Korol S, Klein D
出版信息
Klin Monbl Augenheilkd. 1978 Apr;172(4):484-7.
PMID:651216
Abstract
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.
摘要
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。
相似文献
1
[Degenerative ocular retinal albinism in a girl ten years old (author's transl)].一名十岁女孩的退行性眼部视网膜白化病（作者译）
Klin Monbl Augenheilkd. 1978 Apr;172(4):484-7.
2
[Atypical form of ocular albinism with a disorder of color perception].[伴有色觉障碍的非典型性眼白化病]
Cesk Oftalmol. 1983 Jan;39(1):25-8.
3
[Tapeto-retinal degeneration combined with incomplete general albinism (author's transl)].视网膜色素变性合并不完全性全身白化病（作者译）
Klin Monbl Augenheilkd. 1975 May;166(5):698-703.
4
[Wagner's syndrome: electro-oculography and color sense].[瓦格纳综合征：眼电图与色觉]
Ann Ocul (Paris). 1970 Jun;203(6):569-78.
5
Sex-linked chorioretinal heredodegenerations.性连锁性脉络膜视网膜遗传性变性
Birth Defects Orig Artic Ser. 1971 Mar;7(3):99-116.
6
A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.CERKL的一种常见奠基者突变是也门犹太人中伴有早期黄斑受累的常染色体隐性视网膜变性的基础。
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8. doi: 10.1167/iovs.07-0736.
7
[Differential diagnosis of early onset tapetoretinal degenerations using retinal functional diagnosis].[利用视网膜功能诊断对早发性视网膜色素变性进行鉴别诊断]
Fortschr Ophthalmol. 1987;84(3):292-7.
8
[Goldmann-Favre hyaloido-tapetoretinal degeneration].[戈德曼-法夫尔玻璃体视网膜变性]
Arch Ophtalmol (Paris). 1976 Feb;36(2):127-36.
9
A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism.一个患有角膜营养不良、视网膜色素变性和白化病的家族谱系。
Acta Ophthalmol (Copenh). 1973;51(4):445-60. doi: 10.1111/j.1755-3768.1973.tb06024.x.
10
[Stargardt's disease (ERG, EOG and chromatic sense)].[斯塔加特病（视网膜电图、眼电图和色觉）]
Ann Ocul (Paris). 1971 Dec;204(12):1331-46.
Zotero 插件