The application of artificial intelligence in diabetic retinopathy screening: a Saudi Arabian perspective

IntroductionDiabetic retinopathy (DR) is the leading cause of preventable blindness in Saudi Arabia. With a prevalence of up to 40% of patients with diabetes, DR constitutes a significant public health burden on the country. Saudi Arabia has not yet established a national screening program for DR. Mounting evidence shows that Artificial intelligence (AI)-based DR screening programs are slowly becoming superior to traditional screening, with the COVID-19 pandemic accelerating research into this topic as well as changing the outlook of the public toward it. The main objective of this study is to evaluate the perception and acceptance of AI in DR screening among eye care professionals in Saudi Arabia.MethodsA cross-sectional study using a self-administered online-based questionnaire was distributed by email through the registry of the Saudi Commission For Health Specialties (SCFHS). 309 ophthalmologists and physicians involved in diabetic eye care in Saudi Arabia participated in the study. Data analysis was done by SPSS, and a value of p < 0.05 was considered significant for statistical purposes.Results54% of participants rated their level of AI knowledge as above average and 63% believed that AI and telemedicine are interchangeable. 66% believed that AI would decrease the workforce of physicians. 79% expected clinical efficiency to increase with AI. Around 50% of participants expected AI to be implemented in the next 5 years.DiscussionMost participants reported good knowledge about AI. Physicians with more clinical experience and those who used e-health apps in clinical practice regarded their AI knowledge as higher than their peers. Perceived knowledge was strongly related to acceptance of the benefits of AI-based DR screening. In general, there was a positive attitude toward AI-based DR screening. However, concerns related to the labor market and data confidentiality were evident. There should be further education and awareness about the topic

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

© 2015 Macmillan Publishers Limited. Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease