Gene Vision is the brainchild of Professor Mariya Moosajee. As a practising consultant ophthalmologist specialising in genetic eye disease, 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. To address this difficult need, Professor Moosajee decided to create Gene Vision, an on-line fully accessible web resource for both health care professionals and patients, so they could equally benefit from the sharing of knowledge and expertise in genetic eye disease.
She approached her colleague Peter Thomas, consultant paediatric ophthalmologist and Director of Digital Innovation, who also has a computer science background, to help build the website. Together, they secured sponsorship from the National Institute of Health Research (NIHR) and Retina UK to fund the project. Dr Alex Yeong was recruited to collate the content for the website. He has been integral to the information provided for both sets of users, patients and health care professionals, the design and accessibility of Gene.Vision.
A patient focus group was conducted to ensure that both health care professionals and sight-impaired individuals could trial the website and comment on its usability. In addition, two professional digital accessibility consultants, Ms Molly Watt and Mr James Buller (both of whom also suffer from genetic eye disease) reviewed the website. This has led to a peer-reviewed publication which provides a gold standard approach of developing accessible web resources, entitled “A Newly Developed Web-Based Resource on Genetic Eye Disorders for Users With Visual Impairment (Gene.Vision): Usability Study“.
Charities, including Retina UK, Aniridia Network, Nystagmus Network, International WAGR Syndrome Association, Norrie Disease Foundation and Microphthalmia, Anophthalmia and Coloboma Support have all reviewed the content related to their conditions and have endorsed the website. Special thanks to Dr Caroline Kilduff for her graphic design input and all the contributors (listed in About us) that helped to write and proof-read the entries. Gene Vision has been a joint effort and all of the contributions have ensured that it has the maximum benefit for patients and their families, especially those receiving a new diagnosis and those seeking information.
Our aim is that Gene Vision will provide an open access dynamic source of information on genetic eye diseases, that will continue to grow with updates on the latest research and treatments entering our health care systems.
Find out more about the team behind Gene.Vision.
Gene Vision has been specifically designed with patients in mind. We have provided detailed information on most genetic eye conditions in a lay accessible format.
1) Searching for a condition
Please use the main search box on the Home page to find the condition you are interested in.
Please follow the links with the desired disease name for patients e.g. Choroideremia: for patients
Alternatively, you can browse through the list of conditions that we currently have on the website through the “Conditions” navigation menu tab.
The information on each condition is also provided to healthcare professionals but written using more medical terminology, but feel free to peruse the whole website.
2) Other interesting features
Please follow the “Newly diagnosed” link on the home page to access all the information that will support you in the early stages of receiving a genetic diagnosis
We have also included a comprehensive section encompassing lots of useful information and resources in the top navigation menu tab called “Information and support.” This includes information on education, employment, driving, family planning, sight impairment registration and on how to get a referral to Genetic Eye Disease Specialist Services across the UK both through the GP or privately.
3) Gene cards
If you know the gene that causes your condition, you will be able to access the “Gene Cards.” These have been created for your doctor to learn more about the disease gene, but there will be links to the condition for patients to navigate back to more understandable information.
If you have any suggestions on how to improve the site or want to receive updates about a condition, please let us know through the “Contact us” form.
Gene Vision has been designed for both patients and healthcare professionals. This means that patients can be signposted to the same website and access the same information but in a lay accessible format (see the “patients and families” section). They should follow the entries for patients e.g. Choroideremia: for patients.
We have provided detailed information on most genetic eye disease categories so that healthcare professionals can get up-to-date information on the condition, management, genetic information and latest research and clinical trials. We have included imaging where possible to help with knowledge and understanding.
1) Searching for a condition
Please use the main search box on the Home page to find the condition or gene you are interested in.
Please follow the links with the desired disease name for professionals e.g. Choroideremia: for professionals.
2) Gene cards
If you want to understand more about a particular gene, please use the “Gene cards.” This will provide a scientific and clinical summary of the gene with links back to the condition page with much more detail.
We have included useful links so that you can provide these to patients in clinic. If you have any suggestions on how to improve the site or want to receive updates about a condition, please let us know through the “Contact us” form.