Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.
Clin Exp Ophthalmol. 2012 Mar;40(2):205-10. doi: 10.1111/j.1442-9071.2011.02728.x. Epub 2011 Dec 23.
Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers. This article reviews some of the historical papers and the importance they have played in gene discovery and understanding of ophthalmic genetics. Tasmanian families have contributed to the identification of genes for X-linked megalocornea, Leber's hereditary optic neuropathy, retinitis pigmentosa, congenital cataract, ptosis, keratoconus, glaucoma and myopia. The true value of the Tasmanian pedigrees will be realized with the translation of genetic discoveries into early diagnosis and treatment for these eye diseases.
尽管最近有相当多关于塔斯马尼亚家族遗传性眼病的研究已经发表，但其中大部分依赖于早期临床研究人员一个世纪以来对细致系谱收集的工作。本文回顾了一些历史文献及其在基因发现和眼科学遗传学理解方面的重要性。塔斯马尼亚家族对 X 连锁型巨大角膜、莱伯遗传性视神经病变、视网膜色素变性、先天性白内障、上睑下垂、圆锥角膜、青光眼和近视的基因鉴定做出了贡献。随着遗传发现转化为这些眼病的早期诊断和治疗，塔斯马尼亚系谱的真正价值将得到体现。
