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PAX6 mutations may be associated with high myopia


Hewitt, AW and Kearns, LS and Jamieson, RV and Williamson, KA and Heyningen, VV and Mackey, DA, PAX6 mutations may be associated with high myopia, Ophthalmic Genetics, 28, (3) pp. 179-182. ISSN 1381-6810 (2007) [Contribution to Refereed Journal]

DOI: doi:10.1080/13816810701356676


PAX6 is a key regulator of eye development and there are many well recognized ophthalmic sequelae of mutations at this locus. The 14 exon PAX6 gene is well conserved across species and phyla. Coding region mutations manifest in a variety of phenotypes. Predicted premature protein truncations are generally associated with classical aniridia. Missense mutations are often found in cases with variant phenotypes such as ectopia pupillae; isolated foveal hypoplasia; nystagmus and hyaloid vessel proliferation. The locus has also been implicated, through a genome-wide sib-pair scan, to be important in the normal variation of myopia. We investigated the association between identified PAX6 mutations and refractive error in Australian patients from four pedigrees. Two of eight subjects with a 1410delC PAX6 mutation had a mean spherical equivalence < -9D, whilst a mean spherical equivalence ≤ -5D was recorded in two from four subjects with an Arg240Stop PAX6 mutation and one of two subjects with a Glu93Stop mutation. One individual identified with a Pro346Ala PAX6 mutation had a mean spherical equivalence of +2.8 D. Thus, our observations generally support other incidental findings, that PAX6 mutation, particularly predicted haploinsufficiency, may be associated with extreme refractive error, although the mechanism by which this occurs is not clear.

Item Details

Item Type:Contribution to Refereed Journal
Keywords:myopia, hypermetropia, aniridia, cataract
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)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:50079
Year Published:2007
Web of Science® Times Cited:43
Deposited By:Medicine
Deposited On:2007-08-01
Last Modified:2014-10-09

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