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Abstract #48656 Published in IGR 14-1
Genetic eye research in Tasmania: a historical overview
Mackey DAClinical and Experimental Ophthalmology 2012; 40: 205-210
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.
Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. david.mackey@lei.org.au
Full articleClassification:
1.2 Population genetics (Part of: 1 General aspects)