• Faye Yu Ci Ng, Poh Lin Tan, and Gangadhara Sundar.
• Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
• Ann Acad Med Singap. 2023 Nov 29; 52 (11): 625634625-634.

IntroductionRare paediatric eye diseases (RPEDs) threaten both vision and life. Recently, rare diseases were recognised as a global public health agenda, with children specified as a priority in the World Health Organization's VISION 2020 against avoidable visual loss.MethodWe conducted a review through a query of online databases (PubMed, Embase and Cochrane Library). Articles related to RPEDs were selected based on relevance by 2 authors, with any disagreements adjudicated by the third author.ResultsWe synthesise the current state of knowledge regarding RPEDs, barriers to their care, and recommendations for the future. RPEDs often result in significant visual loss, profoundly impacting the way children comprehend and participate in the world. These diseases may also reduce life expectancy and even be life-threatening. Barriers to the care of RPEDs include an unclear definition of "rare diseases", missed or delayed diagnosis, inadequate knowledge and expertise in management, and challenging research environments.ConclusionOur findings provide an update on the diagnosis and management of RPEDs, which is of relevance to ophthalmologists, paediatricians, healthcare policymakers and social workers. We propose supportive policies and adequate resource allocation to these diseases, comprehensive and patient-centred care, alongside improved education and training, enhanced research capabilities and continued collaboration across institutions.

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