韩国罕见视网膜疾病12年累积发病率研究-动脉网

12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea

Nature 等信源发布 2025-01-04 19:07

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Abstract

摘要

Purpose

目的

Understanding the incidence of rare diseases is important in establishing a proper public health care system and setting target diseases in medical research. Herein, we report the 12-year cumulative incidence of seven rare ocular diseases of the retina in South Korea.

了解罕见病的发病率对于建立适当的公共卫生保健系统和在医学研究中设定目标疾病非常重要。在此，我们报告了韩国七种罕见视网膜眼病的12年累积发病率。

Methods

方法

We analysed clinical records of 1,126,250 South Korean population during 2006~2019. We conducted a nationwide, population-based, cohort study using data from the Korean National Health Claims database. With codes in the Korean Standard Classification of Diseases, the cumulative incidence of each retinal disease (Choroideremia, Eales disease, Coats disease, Retinitis pigmentosa, Best disease, Stargardt disease, and Leber’s congenital amaurosis) was calculated.

我们分析了2006年至2019年期间1126250名韩国人口的临床记录。我们使用韩国国家健康声明数据库的数据进行了一项全国范围的基于人群的队列研究。根据韩国标准疾病分类中的代码，计算了每种视网膜疾病（脉络膜血症，Eales病，Coats病，色素性视网膜炎，Best病，Stargardt病和Leber先天性黑蒙）的累积发病率。

Incidences in different sex and age groups were also assessed..

还评估了不同性别和年龄组的发病率。。

Results

结果

Late-onset diseases had a higher incidence rate in adulthood, but there were no definite differences between sex. The 12-year cumulative incidence per 100,000 people in rare retinal diseases was 0.66 to 28.45. Among them, retinitis pigmentosa revealed higher incidence (28.45 (95% CI 25.59–31.30) in total, 29.33 (95% CI 23.67–34.99) in males, 29.47 (95% CI 25.38–33.55) in female).

。罕见视网膜疾病每10万人的12年累积发病率为0.66至28.45。其中，色素性视网膜炎的发病率较高（总共28.45（95%CI 25.59-31.30），男性29.33（95%CI 23.67-34.99），女性29.47（95%CI 25.38-33.55）。

Late-onset rare retinal diseases such as Eales diseases and Best diseases have higher incidence rates in adults. The incidence difference according to gender was not significant..

成人迟发性罕见视网膜疾病（如Eales病和Best病）的发病率较高。性别差异不显著。。

Conclusions

结论

This study determined the estimated long-term cumulative incidence rate of rare retinal diseases and the distribution of the incidence based on sex and age. The nationwide epidemiological data would give useful information for public health and further research.

这项研究确定了罕见视网膜疾病的估计长期累积发病率以及基于性别和年龄的发病率分布。全国流行病学数据将为公共卫生和进一步研究提供有用的信息。

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Fig. 1: The incidence of rare retinal diseases according to age.

图1：按年龄划分的罕见视网膜疾病的发病率。

Fig. 2: The incidence of rare retinal diseases by gender.

图2：按性别分列的罕见视网膜疾病的发病率。

Data availability

数据可用性

Data used to support the findings of this study are available from the corresponding author upon request.

用于支持本研究结果的数据可应要求从通讯作者处获得。

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Acknowledgements

致谢

This research was supported by the Chung-Ang University Research Grants in 2022 and research grant from Institute of Clinical Medicine Chung-Ang University Gwangmyeong Hospital (2023).

这项研究得到了2022年中央大学研究补助金和中央大学光明医院临床医学研究所（2023年）的研究补助金的支持。

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Department of Ophthalmology, Seoul National University College of Medicine, Seoul, South Korea

韩国首尔国立大学医学院眼科

Minjeong Kim

金敏正

Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea

韩国首尔中央大学医学院眼科

Ungsoo Samuel Kim

金

Department of Ophthalmology, Chung-Ang University Gwangmyeong Hospital, Gwangmyeong-si, South Korea

韩国光明寺忠昂大学光明医院眼科

Ungsoo Samuel Kim

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Contributions

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MJK and USK was responsible for writing the protocol and report, conducting the search, screening potentially eligible studies, extracting and analyzing data, interpreting results, updating reference lists and creating ’Summary of findings’ tables. MJK wrote the first draft and USK revised the manuscript..

MJK和USK负责编写方案和报告，进行搜索，筛选可能符合条件的研究，提取和分析数据，解释结果，更新参考列表并创建“结果摘要”表。MJK撰写了初稿，USK修改了手稿。。

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The whole process properly adhered to the tenets of the Declaration of Helsinki. The study was approved by the Kim’s Eye Hospital Institutional Review Board (2021-04-008).

整个过程正确地遵循了《赫尔辛基宣言》的宗旨。该研究得到了金氏眼科医院机构审查委员会（2021-04-008）的批准。

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Kim, M., Kim, U.S. 12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.

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Eye

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(2025). https://doi.org/10.1038/s41433-024-03565-5