Della N G
Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University, School of Medicine, Baltimore, Maryland 21287, United States of America.
Aust N Z J Ophthalmol. 1996 May;24(2):85-95. doi: 10.1111/j.1442-9071.1996.tb01560.x.
Rapid advances in molecular technology have led to the identification of many genes responsible for inherited disease in ophthalmology. These discoveries also portend an understanding of the pathogenesis of more common ophthalmic disorders which have a genetic component, such as open-angle glaucoma and age-related macular degeneration. This review comprises a summary of these advances in molecular genetics, particularly the contribution of the Human Genome Project; a tabulation of the genes recently proven to be mutated in hereditary ocular conditions; and a discussion of the implications for the practising ophthalmologist.
分子技术的迅速发展已促使人们识别出许多导致眼科遗传性疾病的基因。这些发现也预示着对具有遗传成分的更常见眼科疾病(如开角型青光眼和年龄相关性黄斑变性)发病机制的理解。本综述总结了分子遗传学方面的这些进展,尤其是人类基因组计划的贡献;列出了最近被证实在遗传性眼部疾病中发生突变的基因;并讨论了这些进展对眼科执业医生的影响。