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Genetic eye research in Tasmania: a historical overview


Mackey, DA, Genetic eye research in Tasmania: a historical overview, Clinical and Experimental Ophthalmology, 40, (2) pp. 205-210. ISSN 1442-9071 (2011) [Refereed Article]

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DOI: doi:10.1111/j.1442-9071.2011.02728.x


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, Leberís 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 diag- nosis and treatment for these eye diseases.

Item Details

Item Type:Refereed Article
Keywords:cataract, glaucoma, keratoconus, ptosis, retinitis pigmentosa
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:75757
Year Published:2011
Web of Science® Times Cited:5
Deposited By:Medicine
Deposited On:2012-02-15
Last Modified:2015-08-11

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