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Genetic eye research in Tasmania: a historical overview

Citation

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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The definitive published version is available online at: http://www3.interscience.wiley.com/

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

Abstract

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:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:75757
Year Published:2011
Web of Science® Times Cited:3
Deposited By:Medicine (Discipline)
Deposited On:2012-02-15
Last Modified:2015-08-11
Downloads:0

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