Abstract
Aniridia has been known for decades as a genetic eye disorder most commonly caused by a mutation in the PAX6 gene. However the “true scope” of this disorder was not fully understood until recently. Today the disorder is known as “aniridia syndrome” since research has shown that the PAX6 gene is responsible for more than just development of the eyes. It has been found that the role of PAX6 can have systemic effects as well; although more research is necessary in the areas of the brain, pancreas, olfactory and central nervous system. The Aniridia Foundation International (AFI), a 501(c)3 nonprofit, collects data to assist in research, provides educational conferences and support to those with aniridia syndrome. AFI is headquartered in the Department of Ophthalmology at the University of Virginia (UVa). Several of the AFI programs will be incorporated into the UVa Ophthalmology’s new Congenital Eye Disorder program. Progress has been made in the understanding of aniridia syndrome through this “team effort model” involving physicians, basic science researchers and those affected with aniridia syndrome. The benefit of these collaborations are that those with genetic syndromes like aniridia or congenital eye disorders can receive specialized ophthalmic and medical care, education, patient support and assist with research advancement through studies and clinical trials all in one place. The information gained from this unique collaboration, and the programs discussed here will benefit those with congenital aniridia syndrome today and in future generations.
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References
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Nerby, J.A. (2015). What to Do When Diagnosed with Aniridia: The Role of Patients’ Associations – Bringing Together Support, Education, and Research to Find the Aniridia Solution. In: Parekh, M., Poli, B., Ferrari, S., Teofili, C., Ponzin, D. (eds) Aniridia. Springer, Cham. https://doi.org/10.1007/978-3-319-19779-1_18
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DOI: https://doi.org/10.1007/978-3-319-19779-1_18
Publisher Name: Springer, Cham
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