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Edén et al. Cataract development in
Norwegian patients with congenital aniridia. Acta Ophthalmol. 2014;92(2):165-167.
Aniridia is a genetic disease where children are born without the iris of their eye, and a retinal defect that reduces their baseline ability to see. However, it is also unfortunately progressive, with patients developing cloudy corneas, glaucoma, retinal detachments and cataract. While many of these conditions are treatable by surgery, these patients are also very prone to develop aggressive, difficult to treat, ocular scarring which can lead to total blindness as they age.
Eye on Aniridia Newsletter
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Edén et al. Cataract development in Norwegian patients with congenital aniridia. Acta Ophthalmol. 2014;92(2):165-167. doi:10.1111/aos.12225
The Duncan lab has been working with Aniridia Foundation International (AFI) to understand the molecular mechanisms underlying this scarring with the goal of identifying new therapies able to maintain patient vision in the long term. Recent gene expression profiling of an animal model of aniridia has revealed a new potential mechanism of fibrotic disease in aniridia that could lead to new therapies. AFI just funded a new two year award to Melinda Duncan's group to validate this molecular mechanism and to explore whether blocking these pathways could help aniridia patients retain their vision long term.