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/