Enhancing medical care for aniridia through a public health lens: a scoping review of organizational models, patient management, and quality of life assessment

Background: Congenital aniridia is a rare disorder characterized by partial or complete absence of the iris and is usually associated with other ocular and systemic complications. Its lifelong and multisystem nature creates challenges that extend beyond clinical management and require coordinated, multidisciplinary, and equitable healthcare delivery. Methods: A scoping review was conducted using the Arksey and O'Malley framework and Joanna Briggs Institute methodology and reported in accordance with PRISMA-ScR. PubMed, Scopus, and Google Scholar were searched for English-language publications from January 2015 to May 2025 addressing organizational models of care, patient-management strategies, and quality-of-life assessment in congenital aniridia. Included sources were descriptively classified by study design and evidence category. Findings were synthesized using a combined deductive and inductive thematic approach. Results: Fourteen sources met the inclusion criteria and represented different geographical and healthcare settings. The evidence was predominantly observational, retrospective, descriptive, or based on expert and organizational recommendations. Across the reviewed literature, recurrent themes included multidisciplinary coordination, access to specialized expertise, structured referral pathways, registries, telemedicine, lifelong monitoring, genetic counseling, rehabilitation, and patient support. However, direct comparative and longitudinal evaluations of organizational models were lacking. Quality-of-life studies used heterogeneous assessment instruments, limiting direct comparison, although poorer visual function, advanced ocular complications, ocular pain, and broader psychological or systemic burden were generally associated with less favorable patient-reported outcomes. Conclusion: The available evidence supports the principles of lifelong, multidisciplinary, coordinated, and patient-centered care for congenital aniridia. Future health-system development may benefit from strengthened centers of expertise, standardized referral pathways, registry infrastructure, digital consultation, and improved access to specialized services. Prospective multicentre and longitudinal studies are needed to determine the comparative effectiveness of different organizational models and to standardize patient-reported outcome assessment.