To mark Rare Disease Day, we hosted a special online meet-up for the UK aniridia community!

Most people there were adults with aniridia, both sporadic and familial. There was also a parent with an aniridic child, and a scientist. They discussed their personal stories of living with the condition, its genetic aspects, treatments and managing the symptoms, as well as the emotional and practical challenges of vision loss.

Support and Coping Strategies

A big theme was the challenges of adjusting to vision loss over time, the emotional and psychological toll it takes. However, accessing appropriate medical care and support services ia a real challenge. Counseling, support networks and sharing experiences to help others cope with aniridia was highlighted as important.

We discussed the use of guide dogs and long cane training to maintain independence and quality of life.

We noted the need for better awareness and understanding of aniridia among healthcare professionals.

Medical Experiences and Treatments

We shared our experiences with various treatments, including cataract surgeries, corneal transplants . The use of (blood serum) lubricating eye drops was talked about at length. This led into the success for one person present of the RAFT trial at Moorfields Eye Hospital, which involves a corneal graft procedure.

Genetic Testing and Research

We discussed genetic testing, the role of the PAX6 gene and other genetic factors in aniridia.

The researcher, expressed interest in understanding the genotype-phenotype relationship in aniridia and spoke about his interest in the PAX6 protein.

Conclusion

The meeting provided a great way for poeple individuals to talk through important issues and improve their underdstand.

Based on this event we hope to organise more regular online meet ups.

Rare Disease Day

We host events around this time of year to mark Rare Disease Day. It’s an international celebration held annually on the 28 February (29th on rare occasions!)

It is a global event aimed at raising awareness and advocating for the needs of individuals living with rare diseases. With over 300 million people worldwide affected by rare diseases, this day serves as a crucial platform to highlight the importance of research, support, and resources for those who often feel overlooked. It’s a day to stand in solidarity, share stories, and foster a sense of community among those facing unique challenges.

Since its creation in 2008, Rare Disease Day has played a critical part in building a community that is multi-disease, global, and diverse– but united in purpose.

Find out more and get involved in supporting Rare Disease Day