Molecular genetics of human retinal disease

被引：188
|
作者：
Rattner, A [1 ]
Sun, H
Nathans, J
机构：
[1] Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA
[3] Johns Hopkins Univ, Sch Med, Dept Ophthalmol, Baltimore, MD 21205 USA
[4] Johns Hopkins Univ, Sch Med, Howard Hughes Med Inst, Baltimore, MD 21205 USA
来源：
ANNUAL REVIEW OF GENETICS | 1999年 / 33卷
关键词：
macular degeneration; retinitis pigmentosa; photoreceptor; ophthalmic genetics;
D O I：
10.1146/annurev.genet.33.1.89
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The past decade has witnessed extraordinary progress in retinal disease gene identification, the analysis of animal and tissue culture models of disease processes, and the integration of this information with clinical observations and with retinal biochemistry and physiology. During this period over twenty retinal disease genes were identified and for many of these genes there are now significant insights into their role in disease. This review presents an overview of the basic and clinical biology of the retina, summarizes recent progress in understanding the molecular mechanisms of inherited retinal diseases, and offers an assessment of the role that genetics will play in the next phase of research in this area.
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页码：89 / 131
页数：43
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