Medline, Embase, and other databases were searched for articles on the epidemiology of RPE65 gene-mediated IRDs from inception until June 2021. Studies were included if they were original research articles reporting the epidemiology of RP and LCA and/or proportion of RPE65 gene mutations in these clinically diagnosed or molecularly confirmed IRDs patients.
A total of 100 studies with relevant data were included in this systematic review. The range for prevalence of LCA and RP in the literature was 1.20-2.37 and 11.09-26.43 per 100,000, respectively. The proportion of RPE65 mutations in clinically diagnosed patients with LCA was found to be between ~ 2-16% within the US and major European countries (France, Germany, Italy, Spain, and the UK). This range was also comparable to our findings in the Asian region for RPE65-LCA (1.26-16.67%). Similarly, for these European countries, RPE65-RP was estimated between 0.23 and 1.94%, and RPE65-IRD range was 1.2-14%. Further, in the Americas region, mutations in RPE65 were reported to cause 1-3% of RP and 0.8-3.7% of IRD cases. Lastly, the RPE65-IRD range was 4.81-8% in the Middle East region.
There are significant variations in reporting of RPE65 proportions within countries as well as regions. Generating robust epidemiological evidence on RPE65 gene-mediated IRDs would be fundamental to support rare disease awareness, timely therapeutic intervention, and public health decision-making.
Medline,Embase,和其他数据库搜索了从开始到2021年6月的RPE65基因介导的IRD的流行病学文章。如果它们是报告这些临床诊断或分子确认的IRD患者中RP和LCA的流行病学和/或RPE65基因突变比例的原始研究文章,则包括研究。
本系统综述共纳入100项相关数据研究。文献中LCA和RP的患病率范围分别为1.20-2.37和11.09-26.43/100,000。在美国和主要欧洲国家(法国,德国,意大利,西班牙,和英国)。该范围也与我们在亚洲地区的RPE65-LCA的发现(1.26-16.67%)相当。同样,对于这些欧洲国家来说,RPE65-RP估计在0.23和1.94%之间,RPE65-IRD范围为1.2-14%。Further,在美洲地区,据报道,RPE65突变导致1-3%的RP和0.8-3.7%的IRD病例.最后,中东地区的RPE65-IRD范围为4.81-8%。
各国和各地区报告的RPE65比例存在显著差异。在RPE65基因介导的IRD上产生强有力的流行病学证据将是支持罕见疾病意识的基础。及时的治疗干预,和公共卫生决策。