Molecular genetics and prospects for therapy of the inherited retinal dystrophies

被引：93
作者：
Bessant, DAR
Ali, RR
Bhattacharya, SS
机构：
[1] UCL, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England
[2] Moorfields Eye Hosp, London EC1V 2PD, England
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 2001年 / 11卷 / 03期
关键词：
D O I：
10.1016/S0959-437X(00)00195-7
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
More than 60 genes responsible for human retinal dystrophies have been identified. Those recently isolated include the transcription factor genes NRL and NR2E3, RDH5 (retinol dehydrogenase), EFEMP1 (which encodes an extracellular matrix protein), CRB1, PROML1, RP1, AIPL1 and USH1C (harmonin). The ABCR protein has been identified as a critical transporter in the recycling of retinal (vitamin A). At present, a number of novel therapeutic strategies are being evaluated including pharmacological treatments, cell transplantation and gene therapy. The progress made with such approaches now offers hope to patients with these incurable forms of blindness.
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收藏
页码：307 / 316
页数：10
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