국내 유전망막변성의 실태조사: 국민건강정보자료 2011-2020
Epidemiology of Inherited Retinal Diseases in Korea: A National Health Information Database Analysis (2011-2020)
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목적: 국내 유전망막변성의 발생률과 유병률을 분석하고자 한다. 대상과 방법: 국민건강보험공단 보험청구자료를 이용하여 2002년 1월 1일부터 2020년 12월 31일까지 기간 동안 유전망막변성을 진단받아 산정특례 코드 V209를 부여받은 자를 대상으로 하였다. 2011년부터 2020년까지의 연령별, 성별, 지역별, 소득수준별 발생률 및 유병률을 분석하였다. 결과: 2011년부터 2020년까지 10년간 유전망막변성을 진단받은 환자수는 총 10,228명이었으며 발생률은 연도별 1.60명/10만 명에서 2.35명/10만 명 사이로 확인되었다. 2020년 기준 국내 유전망막변성 환자로 등록되어 있는 환자는 총 13,894명이었으며, 유병률은 10만 명당 27.1명으로 계산되었다. 처음 진단 당시 환자의 거주지 내의 병원에서 진단받은 비율이 서울(94.0%) 및 광역시(76.8%), 제주도(70.8%)를 제외하고 50% 미만이었으며, 대부분의 진단이 서울(44.4%), 광역시(29.4%), 경기도(12.1%)에서 이루어졌다. 소득수준 상위 25%의 유전망막변성 발생률이 타 소득수준에 비하여 높았다. 결론: 본 연구는 전 인구적 조사를 통해 유전망막변성의 포괄적인 발생률과 유병률을 구한 첫 연구이며, 지역별 및 소득별 의료 접근성에 대한 분석을 시행하였다는 데 의의가 있다.
Abstract
Purpose: We evaluated the incidence and prevalence of inherited retinal diseases (IRDs) in Korea using a national database. Methods: This retrospective study used the National Health Information Database to enroll patients with IRDs (registration code V209) between January 2011 and December 2020. Incidence and prevalence of IRDs were analyzed and stratified by age, sex, geographic location, and socioeconomic status. Results: During the study period, 10,228 patients were diagnosed with IRD, yielding an annual incidence rate of 1.60–2.35 per 100,000 individuals. In 2020, the prevalence of IRD reached 27.1 cases per 100,000 individuals. Initial diagnoses were primarily concentrated in Seoul (44.4%), metropolitan areas (29.4%), and Gyeonggi province (12.1%). Notably, less than 50% of patients received their initial diagnosis in their home region, except for residents of Seoul (94.0%), metropolitan areas (76.8%), and Jeju Island (70.8%). The incidence of IRDs was higher among the top 25% income bracket, compared to other income levels. Conclusions: Our study provides the first nationwide, population-based estimates of IRD incidence and prevalence in Korea. Our findings reveal significant regional and socioeconomic disparities in IRD healthcare access, emphasizing the need for targeted interventions.
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