국내 유전망막변성의 실태조사: 국민건강정보자료 2011-2020

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.