File(s) under permanent embargo
Genetic eye research in Tasmania: a historical overview
journal contributionposted 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.
Publication titleClinical and Experimental Ophthalmology
Department/SchoolTasmanian School of Medicine
Place of publicationUSA
Rights statementThe definitive published version is available online at: http://www3.interscience.wiley.com/