PDF(Pubmed)
Abstract：
Inherited retinal dystrophies (IRDs) represent a genetically diverse group of progressive, visually debilitating diseases. Adult and paediatric patients with vision loss due to IRD caused by biallelic mutations in the 65-kDa retinal pigment epithelium (RPE65) gene are often clinically diagnosed as retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA). This study aimed to understand the epidemiological landscape of RPE65 gene-mediated IRD through a systematic review of the literature, as the current evidence base for its epidemiology is very limited.
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, 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.
摘要：
遗传性视网膜营养不良（IRD）代表了一个遗传多样性的渐进性，视觉衰弱的疾病。由65-kDa视网膜色素上皮（RPE65）基因的双等位基因突变引起的IRD引起的视力丧失的成人和儿科患者通常在临床上被诊断为视网膜色素变性（RP），和Leber先天性黑蒙（LCA）。本研究旨在通过对文献的系统回顾,了解RPE65基因介导的IRD的流行病学,因为目前其流行病学的证据基础非常有限。
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。
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。
