■罕见的儿科眼病(RPEDs)威胁视力和生命。最近,罕见疾病被公认为全球公共卫生议程,将儿童列为世界卫生组织2020年愿景中的优先事项,以防止可避免的视力丧失。
■我们通过查询在线数据库(PubMed,Embase和Cochrane图书馆)。与RPED相关的文章是根据2位作者的相关性选择的,第三作者裁定的任何分歧。
■我们综合了关于RPED的当前知识状态,阻碍他们的照顾,以及对未来的建议。RPED通常会导致明显的视力丧失,深刻影响儿童理解和参与世界的方式。这些疾病也可能降低预期寿命,甚至危及生命。治疗RPEDs的障碍包括“罕见疾病”的定义不明确,漏诊或延误诊断,管理知识和专业知识不足,具有挑战性的研究环境。
■我们的发现提供了有关RPEDs诊断和管理的最新信息,这与眼科医生有关,儿科医生,医疗政策制定者和社会工作者。我们为这些疾病提出扶持政策和充足的资源分配,全面和以患者为中心的护理,除了改善教育和培训,加强研究能力和跨机构的持续合作。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.