Epidemiology, Biogen, Cambridge, Massachusetts, USA.
Global Medical Affairs, Biogen, Cambridge, Massachusetts, USA.
Ophthalmic Genet. 2022 Oct;43(5):581-588. doi: 10.1080/13816810.2022.2109686. Epub 2022 Aug 25.
X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males.
A comprehensive literature review was conducted to determine the prevalence of retinitis pigmentosa GTPase regulator -mutated XLRP. Identified studies were used to estimate four components among males: the prevalence of retinitis pigmentosa (RP), the proportion of RP that was X-linked, the proportion of misclassified inheritance type among RP cases, and the proportion of XLRP that was -mutated. Studies providing a direct estimate of XLRP prevalence were also included. The components' sample size-weighted averages were combined to determine an overall prevalence estimate.
The prevalence of XLRP was estimated to be between 2.7-3.5 per 100,000 males in the US, Europe, and Australia. After correction for misclassification, the prevalence increased to 4.0-5.2 per 100,000 males. Finally, the proportion of XLRP cases due to mutations was applied, resulting in an -mutated XLRP estimate of 3.4-4.4 per 100,000 males. Studies from other countries were consistent with the results for the overall XLRP prevalence but were not included in the final calculation because of regional variations and lack of detailed information.
These findings address an important gap in the understanding of -mutated XLRP by summarizing the global burden of this condition.
X 连锁型色素性视网膜炎（XLRP）是一种罕见的遗传性视网膜疾病，主要影响男性。
进行了全面的文献回顾，以确定突变的 XLRP 型色素性视网膜炎 GTP 酶调节因子的患病率。使用确定的研究来估计男性中的四个组成部分：色素性视网膜炎（RP）的患病率、X 连锁 RP 的比例、RP 病例中遗传类型分类错误的比例以及 XLRP 中 -突变的比例。还包括提供 XLRP 患病率直接估计的研究。将各组成部分的样本大小加权平均值进行组合，以确定总体患病率估计值。
在美国、欧洲和澳大利亚，XLRP 的患病率估计为每 10 万名男性 2.7-3.5 例。经过分类错误校正后，患病率增加到每 10 万名男性 4.0-5.2 例。最后，应用 XLRP 病例归因于 突变的比例，导致每 10 万名男性中有 3.4-4.4 例为 -突变的 XLRP。来自其他国家的研究结果与总体 XLRP 患病率的结果一致，但由于地域差异和缺乏详细信息，未包含在最终计算中。
这些发现通过总结这种疾病的全球负担，解决了对 -突变的 XLRP 理解的重要差距。
