British Journal of Ophthalmology | 2021
Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward
Abstract
INTRODUCTION Inherited retinal disease (IRD) affects approximately 1 in 3000 individuals in North America and Europe, and is a significant cause of visual impairment and blindness among children and workingage adults, with major personal and societal impact. 2 Accurate clinical phenotypic and genotypic diagnosis of IRD is challenging, but increasingly important and relevant. Traditionally, genotypic diagnosis has been considered ‘nice to have’, but not ‘essential’, with implications usually related to patient prognostication and genetic counselling. However, an accurate genetic diagnosis is now of paramount importance because of rapid advances in potential gene replacement and other therapies for these previously untreatable conditions. In 2017, the first gene therapy for IRD was approved by the US Food and Drug Administration for the treatment of RPE65mediated retinal dystrophy, and shortly after by the European Medicines Agency as well. Multiple clinical trials are currently underway for other IRDs, including choroideraemia, Stargardt disease and retinitis pigmentosa (RP). 5 Besides gene replacement therapy, progress in other areas such as antisense oligonucleotide therapy and gene editing with clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPRassociated proteins also rely on accurate genetic diagnosis. 6