Inherited retinal diseases (IRDs) are a group of monogenetic disorders that are characterised by early loss and progressive deterioration of retinal photoreceptors. Although rare as individual disorders, IRDs have an estimated incidence of 1:3500 in the global population, and they are the leading cause of vision loss in childhood and adolescence.
The highly detrimental impact of IRDs on quality of life translates into a heavy burden for patients, families, and society. The estimated socioeconomic cost ranges between 30k€ and 64k€ yearly per patient. Accumulated over several decades of life with the disease, it often exceeds 1m€ per patient. Researchers are developing novel gene-based and cell-based therapies. Although the first gene augmentation therapy has come to market (Luxturna for RPE65), actual translation to clinical use is severely hampered by the lack of a good outcome parameter.
Advances in retinal imaging include the introduction of adaptive optics (AO), a high-resolution imaging technique derived from astrophysics, which has, for the first time, enabled the in-vivo visualisation of individual cells in the patients’ retinas. The objective of the AO-VISION project is to develop novel automatic and quantitative measures for early diagnosis, detection of subclinical changes, patient stratification for treatment, and assessment of the disease progression using artificial intelligence (AI) based methods applied to AO.
