Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Autor: Sallum JMF; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.; Instituto de Genética Ocular, São Paulo, Brazil., Kaur VP; Novartis Healthcare Pvt. Ltd, Hyderabad, India., Shaikh J; Novartis Healthcare Pvt. Ltd, Hyderabad, India., Banhazi J; Novartis Pharma AG, 4056, Basel, Switzerland. judit.banhazi@novartis.com., Spera C; Novartis Pharma AG, 4056, Basel, Switzerland., Aouadj C; Novartis Pharma K. K, Tokyo, Japan., Viriato D; Novartis Pharma AG, 4056, Basel, Switzerland., Fischer MD; Centre for Ophthalmology, University Eye Hospital, University Hospital Tübingen, Tübingen, Germany.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jazyk: angličtina
Zdroj: Advances in therapy [Adv Ther] 2022 Mar; Vol. 39 (3), pp. 1179-1198. Date of Electronic Publication: 2022 Jan 30.
DOI: 10.1007/s12325-021-02036-7
Abstrakt: Introduction: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
(© 2022. The Author(s).)
Databáze: MEDLINE
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