Medical information about aniridia, written for both patients and doctors is now available on a new website by Moorfields Eye Hospital.
Gene.Vision contains in-depth, but easy to read, details about aniridia for patients and their families. For example there is an overview of the eye’s structure for those without prior knowledge. It also lists current research and clinical trials in to treatments.
Alongside is scientific content aimed at clinicians and other professionals who are diagnosing patients or learning about the condition.
Professor Mariya Moosajee set up the site. As a practising consultant ophthalmologist specialising in aniridia, she said that she:
“has had countless conversations with families struggling to find the information they needed on their condition, including the appropriate care pathways, latest research and accessing social support. Often patients would report never receiving an explanation on what their rare disease was and how it was caused.”
She also hopes it will be used by GPs and other referrers to understand their patient’s condition and how to provide the best care plan, quickly and easily.
It was vital to test that the website could be used by everyone, especially those with all levels of sight loss and using magnification or screen reader software. A user focus group and testing session helped make iterate a prototype. So the final site is useful for parents, younger people and health care professionals. It adapts well to use on mobile devices too.
“The page speaks to a patient or a family member. I think it addresses the issues they want to know about. The content is not too detailed, digestible and easy to understand”Parent of visually impaired child
“Gene.vision is easier to read and has a softer tone than Wikipedia. The layout is more user friendly as well”Visually impaired person
Aniridia Network contributed to the website’s content. Trustee James Buller was a digital consultant for the project. He advised on development methods and checked the code for accessibility issues. He later took part in the trials too. This led to helping to edit a paper, that was later peer-reviewed published in the Journal of Medical Internet Research.
“I have been advocating for a website like this for many years. A free, easy to use, authoritative, up to date aniridia resource is badly needed by our worldwide community. I am delighted to have played a part in making it a reality. I hope it will grow in size and effectiveness over time.”James Buller
The website hosts resources relating to several other rare genetic eye diseases. Genetic disorders are rare, but together contribute to more than 60% of blindness among infants worldwide2. Inherited retinal diseases are the commonest cause of blindness among working-age adults generating a huge burden for those with the disease and their families.3
“It can be devastating for those receiving rare genetic diagnoses, and frequently patients are not provided with the accurate information they need. Unfortunately, there is also a lack of professional knowledge so patients are not always signposted to relevant resources for information and support, or offered the appropriate investigations, which could really benefit them in the short and long term.”
“Families deserve to know whether the condition could reoccur in future pregnancies or be passed on to the next generation, or if there are clinical trials they could access. Receiving a genetic diagnosis can cause a great deal of anxiety and worry. Hence we needed a trustworthy open-access knowledge resource that complements other credible and accurate information already out there.”Professor Moosajee
Gene Vision was developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation) at Moorfields Eye Hospital in 2019/20. It went live on 1 December 2020.
The website was jointly supported and funded by The National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and Retina UK, a charity which works for people with inherited sight loss.
Key medical charities including Microphthalmia, Anophthalmia, Coloboma Support, Aniridia Network, International WAGR Syndrome Association, Nystagmus Network and others have also inputted on content.