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

Eye volume 39, pages 1170–1174 (2025)Cite this article

Subjects

Abstract

Purpose

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.

Methods

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

Results

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). 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.

Conclusions

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.

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Fig. 1: The incidence of rare retinal diseases according to age.
Fig. 2: The incidence of rare retinal diseases by gender.

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Data availability

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

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Acknowledgements

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).

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Authors and Affiliations

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

    Minjeong Kim

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

    Ungsoo Samuel Kim

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

    Ungsoo Samuel Kim

Authors
  1. Minjeong Kim
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  2. Ungsoo Samuel Kim
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Contributions

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.

Corresponding author

Correspondence to Ungsoo Samuel Kim.

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Competing interests

The authors declare no competing interests.

Ethics approval

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).

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Kim, M., Kim, U.S. 12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea. Eye 39, 1170–1174 (2025). https://doi.org/10.1038/s41433-024-03565-5

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