Hello!

Thanks for making it this far. Hopefully this means you are thinking of giving to this important research. Now hopefully I can coax you into giving more money than you had planned!

I am going to (try and) swim 5km to raise money for research into aniridia. A family friend have a wonderful daughter, Ella,  who has suffered the trials of breathing difficulties, cancer and aniridia in her short life so far due to a chromosomal disorder. Aniridia is associated with undeveloped or underdeveloped irises which can lead to poor vision and even blindness (more info from Moorfield's at the bottom of the page).

I am trying to help the Chapple's raise £50, 000 to research this condition. So anything you can give is hugely appreciated by me and even more by Ella and the Chapple family.

Thanks for taking the time to visit my JustGiving page.

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity and make sure Gift Aid is reclaimed on every eligible donation by a UK taxpayer. So it’s the most efficient way to donate - I raise more, whilst saving time and cutting costs for the charity.

So please dig deep and donate now.

Aniridia is an eye disease that can lead to blindness by affecting several parts of the eye.  From the outset the vision is often reduced by the fact that the area of central vision, the macula does not develop fully. This is known as macular hypoplasia. However despite this, patients with Aniridia develop sufficient vision to navigate safely, recognise friends and family, read with the help of special reading aids and have sufficient eyesight to live a very fulfilling life.

However there are two conditions that can particularly threaten the precious eyesight that these patients are so reliant on. These are glaucoma and Aniridia related keratopathy. 

Glaucoma, which is a build up of pressure in the eye, occurs in up to 50% of patients, usually starting in childhood. With early diagnosis and proper treatment, the vision can be preserved. Therefore vigilance and early treatment are paramount. 

Keratopathy is a condition usually occuring in early adulthood (20s) but can occur in mid to late childhood. The cause is not fully understood but we believe that the stem cells that are responsible for keeping the front clear window of the eye (the cornea) transparent start to malfunction. This causes the cornea to lose its clarity and instead become opaque. As a result the patient cannot see through the cornea and vision becomes progressively poorer. Also, because the skin on the surface of the cornea is unhealthy, it tends to break down, causing painful ulcers. 

Until recently, treatment for Aniridia related keratopathy has aimed to relieve discomfort using contact lenses and eyedrops. Recently, the Cells for Sight Transplantation and Research Programme has treated several adult patients with Aniridia using stem cell therapy.  The early results are promising but far from perfect.  It is possible in some cases for vision to be improved from perception of hand movement to reading the larger letters on an eye test chart. 

However, this outcome may not be enduring and has not been experienced by all patients treated. This could be for many reasons.  Our early data suggest that defective communication between different cell types in the cornea play a significant role in this disease.  To prevent Aniridia-induced corneal blindness it would in the future be necessary to treat children.  Therefore it is imperative that we have a better understanding of the basic biology of disease progression in Aniridia in order to improve our existing therapeutic strategy and to develop novel therapies that may preserve or improve vision for longer.