Dublin: 2nd November, 2018. A global community of patients and representative groups concerned with inherited blindness today launched www.retina-ird.org
The toolkit is designed to be a central information hub bringing patients, their representatives, health care providers and policy makers the most up-to-date information on the various forms of Inherited Retinal Diseases.
Inherited retinal diseases (IRDs; also called “inherited retinal dystrophies or degenerations”) are a diverse group of rare eye diseases, characterised by the progressive loss of function or death of photoreceptor (light-sensitive) cells in the retina, resulting in associated vision loss or blindness. The underlying cause of all IRDs is the presence of a mutation(s) in genes involved in development and normal function of photoreceptors or other retinal cells.
It has been estimated that IRDs affect approximately 1 in every 3000 persons; more than 2 million people worldwide. IRDs can affect people of all ages – they are leading cause of vision loss in people of working age and a common cause of visual impairment in childhood.
Speaking at the launch of the Toolkit the President of Retina International, Christina Fasser, stated ‘Early diagnosis, and especially genetic diagnosis, is key to give all patients access to supports and treatments to improve their quality of life. Retina International recognises the need for reliable and up-to-date resources to inform, educate and empower patients. The recent approval of the first gene therapy for a specific type of IRD called LCA that is 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.’
A global survey was developed to better understand the needs of patients and the groups that represent them in order to provide the most useful information. It highlights the need for a clearer description of the various genetic forms of IRDs and the impact of much discussed scientific discovery on affected individuals and those who support them. Retina International would like to thank all who contributed to the survey.
IRDs are a complex collection of rare retinal degenerations, such as Retinitis Pigmentosa (RP), Usher Syndrome, Leber Congenital Amaurosis (LCA), Stargardt Disease, and Juvenile Macular Degenerations. To date, more than 280 genes have been associated with IRDs, covering 60 to 70% of all cases. Work continues to discover more. Given the breadth of information available about the various different types of IRDs, we will first launch Phase I with an initial focus on LCA and Usher Syndrome, and then follow with other conditions in Phases II and III. The IRD Toolkit has been supported by an unrestricted educational grant from Novartis.
The aim of the IRD Toolkit is to serve our community and so we welcome any feedback, comments or suggestions that you think would help to improve it. Please contact firstname.lastname@example.org with your feedback.
We hope that this important toolkit will help you in your understanding of IRDs.