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Improving visual outcomes in patients with rare paediatric eye diseases
Faye Yu Ci Ng1, Poh Lin Tan2,3, Gangadhara Sundar4
1Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Insights
Rare paediatric eye diseases (RPEDs) significantly impact children's vision and life expectancy. Addressing barriers in diagnosis, management, and research is crucial for improving care and outcomes for these rare conditions.
Area of Science:
- Ophthalmology
- Paediatrics
- Rare Diseases
Background:
- Rare paediatric eye diseases (RPEDs) pose significant threats to children's vision and overall health.
- The World Health Organization prioritizes children's rare diseases within global health agendas like VISION 2020.
Purpose of the Study:
- To synthesize current knowledge on the diagnosis and management of RPEDs.
- To identify barriers hindering effective care for children with RPEDs.
- To propose recommendations for improving the future care landscape of RPEDs.
Main Methods:
- A comprehensive literature review was conducted.
- Online databases including PubMed, Embase, and Cochrane Library were queried.
- Article selection and data extraction were performed by multiple authors to ensure accuracy.
Main Results:
- RPEDs can lead to severe visual impairment, affecting children's development and participation.
- Key barriers include undefined rare disease criteria, diagnostic delays, insufficient expertise, and research challenges.
- These conditions can reduce life expectancy and be life-threatening.
Conclusions:
- Improved diagnosis and management strategies for RPEDs are essential.
- Recommendations include supportive policies, resource allocation, patient-centered care, enhanced education, and inter-institutional collaboration.
- Findings are relevant for ophthalmologists, paediatricians, policymakers, and social workers.
Introduction:
Rare 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.
Method:
We 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.
Results:
We 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.
Conclusion:
Our 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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