Retina International's IRD Toolkit

On behalf of Retina International, I would like to welcome you to the IRD Toolkit. This educational resource was designed by patients for patients, their representatives and their healthcare professionals to address the challenges of vision health and avoidable blindness.

The objective of this toolkit is to give you an overview of Inherited Retinal Diseases (IRDs), including descriptions of on-going research, clinical trials and new treatments of the various diseases, and associated patient advocacy. We will continually update and add to this resource as our understanding evolves.

IRDs are a collection of rare retinal degenerations, such as Retinitis Pigmentosa (RP), Usher Syndrome, Leber Congenital Amaurosis (LCA), Stargardt Disease, and Juvenile Macular Degenerations. They represent the primary cause of severe visual impairment or blindness in childhood and those of working age in industrialised countries. To date, more than 280 genes have been associated with IRDs, covering 60 to 70% of all cases. Work continues to discover more. For the large majority of these rare diseases no treatment is currently available, however many clinical trials are underway giving hope for the future. Given the breadth of information, we will launch with an initial focus on LCA and Usher Syndrome and follow with other conditions.

The recent approval of the first gene therapy for LCA due to biallelic mutations in the RPE65 gene gives rise to a growing demand for more information for those affected, their families and professionals alike.

We hope that this toolkit is useful and look forward to your feedback and suggestions.

Enjoy your visit,
Christina Fasser, President, Retina International

About this site

Millions of people all over the world are living with severe vision loss, a significant proportion of which is due to Retinal Dystrophies or Retinal Degenerations as they are also known. For individuals and families who have been diagnosed with a retinal dystrophy be it rare, genetic and inherited or age-related, access to relevant, detailed and clearly understandable information is essential.

This site aims to provide timely, relevant and accurate information to patients and their families and professionals (Eye Care Professionals, Advocates, etc.) on Inherited Retinal Degenerations (IRDs). The site has been developed to help individuals and their families with a diagnosis of IRDs to understand the disease and prepare themselves for the future.

It has also been developed to provide professionals with clear and concise information on IRDs, in particular, to provide them with the relevant information to advocate for improved services for affected individuals, and funding of relevant research to help support development and reimbursement of innovative therapies.

This site has benefited from input from a wide range of individuals and organisations that supported development and review of content, and website design and testing. Images and videos have come from a wide range of organisations, including the National Eye Institute at the National Institutes of Health and Fighting Blindness (Ireland). This site has been supported by an unrestricted educational grant from Novartis.

About Retina International

For almost 40 years, Retina International (RI) has been the voice of patient-led voluntary groups, charities and foundations world-wide who fund and support Retinal Research that is seeking a cure for Retinitis Pigmentosa (RP), Macular Degeneration, Ushers Syndrome & Allied Retinal Dystrophies.

RI has over 30 active members made up of Patient-led Voluntary Groups, Charities and Foundations from around the world, all with the common goal of finding cures and treatments for Retinal Dystrophies by supporting Research and Innovation.

A core objective of RI is to develop capacity building tools that will build a united and educated community that is equipped to advocate with confidence for

  1. Better investment in research and the infrastructures that support it;
  2. Access to genetic testing;
  3. Appropriate clinical trial processes, addressing the particular needs of those impacted by vision impairment and loss; and
  4. Global and equitable access to therapies for retinal dystrophies.

RI fosters and supports collaborations between patients, clinicians, researchers, policy makers and industry in the development of educational tools and awareness campaigns that will bring about a better quality of life for individuals and families affected by retinal dystrophies.

Contact Retina International

If you have any questions or comments about this toolkit, please contact sarah.mcloughlin@retina-international.org

If you wish to become involved with Retina International as an advocate for positive change, we want to hear from you. Working together we can go a long way towards coordinating the global voice of patients affected by retinal degenerative diseases to be effective actors in their health care choices now and into the future.

Promoting the establishment and development of patient-led organisations in countries in which such societies do not already exist is integral to the growth of a well-informed patient community. RI is here to help emerging organisations set clear goals and to realise them. Please contact us at info@retina-international.org or our CEO Avril Daly at avril.daly@retina-international.org.

Disclaimer

Retina International is not responsible for the content of any other website or online portal accessible from this website, nor does it endorse or in any respect warrant any third party products or services by virtue of any information, material or content referred to, included on, or linked from or to this website.

This site has been supported by an unrestricted educational grant from Novartis