Artificial intelligence methods in diagnosis of retinoblastoma based on fundus imaging: a systematic review and meta-analysis

BackgroundArtificial intelligence (AI) algorithms for the detection of retinoblastoma (RB) by fundus image analysis have been proposed as a potentially effective technique to facilitate diagnosis and screening programs. However, doubts remain about the accuracy of the technique, the best type of AI for this situation, and its feasibility for everyday use. Therefore, we performed a systematic review and meta-analysis to evaluate this issue.MethodsFollowing PRISMA 2020 guidelines, a comprehensive search of MEDLINE, Embase, ClinicalTrials.gov and IEEEX databases identified 494 studies whose titles and abstracts were screened for eligibility. We included diagnostic studies that evaluated the accuracy of AI in identifying retinoblastoma based on fundus imaging. Univariate and bivariate analysis was performed using the random effects model. The study protocol was registered in PROSPERO under CRD42024499221.ResultsSix studies with 9902 fundus images were included, of which 5944 (60%) had confirmed RB. Only one dataset used a semi-supervised machine learning (ML) based method, all other studies used supervised ML, three using architectures requiring high computational power and two using more economical models. The pooled analysis of all models showed a sensitivity of 98.2% (95% CI: 0.947-0.994), a specificity of 98.5% (95% CI: 0.916-0.998) and an AUC of 0.986 (95% CI: 0.970-0.989). Subgroup analyses comparing models with high and low computational power showed no significant difference (p=0.824).ConclusionsAI methods showed a high precision in the diagnosis of RB based on fundus images with no significant difference when comparing high and low computational power models, suggesting a viability of their use. Validation and cost-effectiveness studies are needed in different income countries. Subpopulations should also be analyzed, as AI may be useful as an initial screening tool in populations at high risk for RB, serving as a bridge to the pediatric ophthalmologist or ocular oncologist, who are scarce globally.Key messagesWhat is knownRetinoblastoma is the most common intraocular cancer in childhood and diagnostic delay is the main factor leading to a poor prognosis.The application of machine learning techniques proposes reliable methods for screening and diagnosis of retinal diseases.What is newThe meta-analysis of the diagnostic accuracy of artificial intelligence methods for diagnosing retinoblastoma based on fundus images showed a sensitivity of 98.2% (95% CI: 0.947-0.994) and a specificity of 98.5% (95% CI: 0.916-0.998).There was no statistically significant difference in the diagnostic accuracy of high and low computational power models.The overall performance of supervised machine learning was best than unsupervised, although few studies were available on the second type.Key messagesWhat is knownRetinoblastoma is the most common intraocular cancer in childhood and diagnostic delay is the main factor leading to a poor prognosis.The application of machine learning techniques proposes reliable methods for screening and diagnosis of retinal diseases.What is newThe meta-analysis of the diagnostic accuracy of artificial intelligence methods for diagnosing retinoblastoma based on fundus images showed a sensitivity of 98.2% (95% CI: 0.947-0.994) and a specificity of 98.5% (95% CI: 0.916-0.998).There was no statistically significant difference in the diagnostic accuracy of high and low computational power models. The overall performance of supervised machine learning was best than unsupervised, although few studies were available on the second type.