色素性视网膜炎
医学
眼科
视力
视网膜电图
视网膜色素上皮
视网膜
队列
黄斑病
视网膜病变
内科学
糖尿病
内分泌学
作者
Mays Talib,Caroline Van Cauwenbergh,Julie De Zaeytijd,David Van Wynsberghe,Elfride De Baere,Camiel J. F. Boon,Bart P. Leroy
标识
DOI:10.1136/bjophthalmol-2020-316781
摘要
Bi-allelic CRB1 mutations result in a range of progressive retinal disorders, most of which are generalised, with characteristically early macular involvement. Visual function and retinal structure analysis indicates a window for potential intervention with gene therapy before the fourth decade of life in RP and the first decade in LCA.
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