Francis P J, Berry V, Moore A T, Bhattacharya S
Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London, UK EC1V 9EL.
Trends Genet. 1999 May;15(5):191-6. doi: 10.1016/s0168-9525(99)01738-2.
Cataract, or opacification of the lens of the eye, is the commonest cause of visual impairment world-wide. It is only treatable at present by surgical removal. Recent advances in our understanding of the genetics of human cataract, in particular the inherited congenital form, together with the development of an array of animal models have provided valuable new insights into normal vertebrate lens biology and the mechanisms that underlie cataract formation. In this article, we review the current state of research in these areas and discuss thinking regarding the relationship between the phenotypes observed and the underlying genotype in inherited cataract.
白内障,即眼球晶状体的混浊,是全球范围内视力损害的最常见原因。目前,它只能通过手术摘除来治疗。我们对人类白内障遗传学,特别是遗传性先天性白内障遗传学的理解取得了最新进展,同时一系列动物模型的开发,为正常脊椎动物晶状体生物学以及白内障形成的潜在机制提供了宝贵的新见解。在本文中,我们综述了这些领域的当前研究状况,并讨论了关于遗传性白内障中观察到的表型与潜在基因型之间关系的思考。