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Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma

Published online by Cambridge University Press:  21 February 2012

Marija Mihelec ,
Luke St Heaps ,
Maree Flaherty ,
Frank Billson ,
Christina Rudduck ,
Patrick P. L. Tam ,
John R. Grigg ,
Greg B. Peters  and
Robyn V. Jamieson
Marija Mihelec
Affiliation:
Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia.
Luke St Heaps
Affiliation:
Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia; Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, Australia.
Maree Flaherty
Affiliation:
Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, Australia.
Frank Billson
Affiliation:
Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia; Faculty of Medicine, University of Sydney, Australia.
Christina Rudduck
Affiliation:
Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, Australia.
Patrick P. L. Tam
Affiliation:
Faculty of Medicine, University of Sydney, Australia; Embryology Unit, Children's Medical Research Institute, Westmead, Australia.
John R. Grigg
Affiliation:
Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia; Faculty of Medicine, University of Sydney, Australia.
Greg B. Peters
Affiliation:
Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, Australia; Faculty of Medicine, University of Sydney, Australia.
Robyn V. Jamieson*
Affiliation:
Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia; Faculty of Medicine, University of Sydney, Australia. [email protected]
*
*Address for correspondence: Dr Robyn Jamieson, Children's Medical Research Institute and The Children's Hospital at Westmead, Hawkesbury Rd, Westmead, New South Wales, 2145, Australia.

Abstract

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Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairment or blindness. Currently treatment options are limited, as much is unknown about the molecular pathways that control normal eye development and induce the aberrant processes that lead to ocular defects. Mutation detection rates in most of the known genes are generally low, emphasizing the genetic heterogeneity of developmental ocular defects. Identification of the disease genes in these conditions improves the clinical information available for affected individuals and families, and provides new insights into the underlying biological processes for facilitation of better treatment options. Investigation of chromosomal rearrangements associated with an ocular phenotype has been especially powerful for disease gene identification. Molecular characterization of such rearrangements, which pinpoints the region by physically disrupting the causative gene or its regulatory sequences, allows for rapid elucidation of underlying genetic factors that contribute to the phenotype. Genes including PAX6, PITX2, FOXC1, MAF, TMEM114, SOX2, OTX2 and BMP4 have been identified in this way to be associated with developmental eye disorders. More recently, new methods in chromosomal analysis such as comparative genomic hybridization (CGH) microarray, have also enhanced our ability in disease gene identification.

Keywords

chromosomal rearrangementsdisease genescataractglaucomamicrophthalmia
Type
Articles
Information
Twin Research and Human Genetics , Volume 11 , Issue 4: Special Issue: Human Genetics in Australia - Guest Editor, Jozef Gecz , 01 August 2008 , pp. 412 - 421
Copyright
Copyright © Cambridge University Press 2008