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Genetic eye research in Tasmania: a historical overview

journal contribution
posted on 2023-05-17, 10:19 authored by David MackeyDavid Mackey
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 diag- nosis and treatment for these eye diseases.

History

Publication title

Clinical and Experimental Ophthalmology

Volume

40

Pagination

205-210

ISSN

1442-9071

Department/School

Tasmanian School of Medicine

Publisher

Wiley-Blackwell Publishing

Place of publication

USA

Rights statement

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

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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