Cataract

Age-related cataracts affect a large proportion of the late middle-age and elderly populations. Animal models are a useful way to examine the effects of genetics and external factors, such as ultra-violet light exposure and other common environmental variants, on the development of these opacifications of the eye.

Congenital cataracts can lead to visual loss and other ocular complications in very young children. Identifying the genetic factors that play a role in the prevalence of this class of disorder helps in understanding the populations most at risk, identifying potential comorbidities that may be observed or indicate increased cataract likelihood, and enable development of future novel treatments.

 

Funding

Funding is provided through the National Health and Medical Research Council:

  • The role of EphA2 signalling and environment modifiers in cataract

 

Featured publications

  • Javadiyan S, Craig JE, Sharma S, et al. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome). BMC Med Genet. 2017 May 8; 18(1):52. doi: 10.1186/s12881-017-0414-7.
  • Siggs OM, Javadiyan S, Sharma S, et al. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract. Eur J Hum Genet. 2017 Jun; 25(6):711-718. doi: 10.1038/ejhg.2017.33. Epub 2017 Mar 8.
  • Dave A, Martin S, Kumar R, et al. EPHA2 mutations contribute to congenital cataract through diverse mechanisms. Mol Vis. 2016 Jan 14; 22:18-30. eCollection 2016.

Cataract