Skip to main content Accessibility help
×
Home

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

  • Marija Mihelec (a1), Luke St Heaps (a2), Maree Flaherty (a3), Frank Billson (a4), Christina Rudduck (a5), Patrick P. L. Tam (a6), John R. Grigg (a7), Greg B. Peters (a8) and Robyn V. Jamieson (a9)...

Abstract

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.

    • Send article to Kindle

      To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

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

      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

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

      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

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

Copyright

Corresponding author

*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.

Keywords

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

  • Marija Mihelec (a1), Luke St Heaps (a2), Maree Flaherty (a3), Frank Billson (a4), Christina Rudduck (a5), Patrick P. L. Tam (a6), John R. Grigg (a7), Greg B. Peters (a8) and Robyn V. Jamieson (a9)...

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed