Francis Peter J, Moore Anthony T
Institute of Ophthalmology, UCL, and Moorfields Eye Hospital, London, England.
Curr Opin Ophthalmol. 2004 Feb;15(1):10-5. doi: 10.1097/00055735-200402000-00003.
Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either in isolation or as part of a syndrome of ocular or systemic anomalies. This article reviews recent advances made in understanding the molecular genetic basis of isolated, nonsyndromic inherited cataract.
New disease-causing mutations continue to be identified and now encompass genes encoding a wide variety of different lens proteins. More detailed investigations of the functional consequences of each mutation are being reported and suggest that lens opacification results not only from precipitation and amyloid-like accumulation of proteins essential for lens transparency but also from interference with their secondary functions.
Improved functional characterization of mutations causing childhood cataract will improve understanding of lens development and physiology but will also have implications for the more common age-related cataract. This too has a significant genetic component to its etiology, and genes causing monogenic forms of childhood inherited cataract represent excellent candidate genes for age-related cataract. The identification of the genes conferring increased risk of developing age-related cataract will bring closer the development of a medical treatment to delay the onset of lens opacification and need for surgery.
先天性白内障虽然比年龄相关性白内障少见得多，但占儿童失明病例的十分之一。大约一半是遗传性的，可单独出现或作为眼部或全身异常综合征的一部分。本文综述了在理解孤立性、非综合征性遗传性白内障分子遗传基础方面的最新进展。
新的致病突变不断被发现，目前涵盖编码多种不同晶状体蛋白的基因。关于每个突变功能后果的更详细研究正在被报道，这表明晶状体混浊不仅源于对晶状体透明度至关重要的蛋白质的沉淀和淀粉样蛋白样积累，还源于对其二级功能的干扰。
对导致儿童白内障的突变进行更好的功能表征将有助于增进对晶状体发育和生理的理解，但也将对更常见的年龄相关性白内障产生影响。年龄相关性白内障在病因上也有重要的遗传成分，导致单基因形式儿童遗传性白内障的基因是年龄相关性白内障的优秀候选基因。确定增加患年龄相关性白内障风险的基因将使延缓晶状体混浊发作和手术需求的医学治疗的开发更近一步。
