A rare genetic condition that affects more than 400 people in Spain

That aniridia This is a genetic disease that seriously affects the eyes of those who suffer from it. The problem it generates is lack of iris, presents underdeveloped, and great ocular structures photophobia which is not the only defect present in this disease, for it does exist different types are called phenotypes. It is a rare disease with an incidence of 1/80,000 births.

Inside it International Day Aniridia is a moment to disseminate, coordinate activities and increase understanding of the rare genetic condition aniridia and related pathologies. Aniridia Europe and Aniridia Network (United Kingdom) have been promoting this initiative with a view to create a viral movement and awaken the solidarity and sensitivity of the population and relevant authorities.

This is a time to disseminate, coordinate activities, and increase understanding of the rare genetic condition aniridia and its associated pathologies.

From Spanish Aniridia Association publication of statistical reports on aniridia and WAGR syndrome in Spain based on the data of our active partners in 2022.

According to the report, aniridia revealed various associated pathologies with this disease. From cataracts, which are the most common, or congenital glaucoma to even corneal degeneration. In the case of the WAGR syndrome, the incidence of Wilms tumor is also observed in 60% of cases, but a lower incidence other possible pathologies.

It is estimated that in Spain there may be approx 400-500 cases and about 40 or 50 WAGR cases. By 2022, AEA has 114 members with Aniridia and 10 members with a diagnosis of WAGR syndrome, meaning almost a third population with Aniridia in Spain and a quarter of people with WAGR syndrome.

From the Spanish Association of Aniridia they hope that this report will form the basis for better understand both pathologies and the consequences. Although it is true that aniridia is “easier” to diagnose than other rare diseasesbecause the absence of iris is observed at the first eye examination, more effective measures are needed to increase access to early diagnosis of associated pathologies and possible cases of WAGR syndrome to offer suitable treatment and comprehensive support that addresses the medical and social needs of people with aniridia and WAGR syndrome.

More effective measures are needed to increase access to early diagnosis of associated pathologies

HOW CAN YOU HELP?

Every year, because great photophobia who are suffering, a campaign was held so that people can show their support by posting photos with sunglasses and the hashtag #AniridiaDay explaining what aniridia is.

from society pushing everyone Learn about this report and share the information with friends, family and colleagues. As more people learn about this disease, will increase empathy and support for those who experience it on a daily basis.

Stuart Martin

"Internet trailblazer. Troublemaker. Passionate alcohol lover. Beer advocate. Zombie ninja."

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