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Genetic diseases of the optic nerve head: from embryogenesis to pathogenesis


Hewitt, AW, Genetic diseases of the optic nerve head: from embryogenesis to pathogenesis, Expert Review of Ophthalmology, 2, (5) pp. 769-777. ISSN 1746-9899 (2007) [Refereed Article]

DOI: doi:10.1586/17469899.2.5.769


Retinal ganglion cells converge to leave the eye through the optic nerve head (ONH). Numerous developmental steps contribute to its complex architecture and, as a corollary, many diseases affect both ONH structure and function. Patients with cavitary disc anomalies have been found to have mutations in PAX6 and PAX2, and although PAX6 mutations have also been associated with optic nerve aplasia and hypoplasia, these specific diseases can also be caused by mutations in other genes, such as SOX2 and OTX2. The genetic mechanisms for a range of diseases causing retinal ganglion cell loss, such as glaucoma or optic atrophy, have also been investigated and although substantial insight into the molecular underpinnings for a proportion of ONH diseases has been reached, much remains to be uncovered. © 2007, Future Drugs Ltd. All rights reserved.

Item Details

Item Type:Refereed Article
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:Hewitt, AW (Professor Alex Hewitt)
ID Code:112587
Year Published:2007
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-11-16
Last Modified:2016-11-16

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