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Abstract：
BACKGROUND: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are scarce. The aim of this study was to examine the validity of different ascertainment sources used in population-based rare diseases registries to detect cases, and to explore the impact of a capture-recapture method in the estimation of the prevalence of LHON in the Autonomous Community of Madrid (ACM) in 2022.
METHODS: Descriptive cross-sectional population-based study. Potential LHON cases were detected by automatic capture from the healthcare information sources usually explored for the Regional Registry for Rare Diseases (SIERMA). Ophthalmologists provided data from their clinical registry. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (CI) were estimated. Global and by sex prevalences were calculated with confimed cases and with those estimated by the capture-recapture method.
RESULTS: A total of 102 potential LHON cases were captured from healthcare information sources, 25 of them (24.5%) finally were confirmed after revision, with an overall PPV of 24.5% (95%CI 17.2-33.7). By source, the electronic clinical records of primary care had the highest PPV (51.2, 95%CI 36.7-65.4). The ophthalmologists clinical registry provided 22 cases, 12 of them not detected in the automatic capture sources. The clinical registry reached a sensitivity of 59.5% (95%CI 43.5-73.6) and the combination of automatic capture sources reached a 67.6% (95%CI: 51.5-80.4). The total confirmed cases were 37, with a mean age of 48.9 years, and a men: women ratio of 2.4:1. Genetic information was recovered in 27 cases, with the m.3460 mutation being the most frequent (12 cases). The global prevalence was 0.55 cases/100,000 inhabitants (95%CI 0.40-0.75), and with the capture-recapture method reached 0.79 cases/100,000 (95%CI 0.60-1.03), a 43.6% higher, 1.15 cases/100,000 (95%CI 0.83-1.58) in men and 0.43 cases/100,000 (95%CI 0.26-0.70) in women.
CONCLUSIONS: The prevalence of LHON estimated in the ACM was lower than in other European countries. Population-based registries of rare diseases require the incorporation of confirmed cases provided by clinicians to asure the best completeness of data. The use of more specific coding for rare diseases in healthcare information systems would facilitate the detection of cases. Further epidemiologic studies are needed to assess potential factors that may influence the penetrance of LHON.
METHODS: Descriptive cross-sectional population-based study. Potential LHON cases were detected by automatic capture from the healthcare information sources usually explored for the Regional Registry for Rare Diseases (SIERMA). Ophthalmologists provided data from their clinical registry. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (CI) were estimated. Global and by sex prevalences were calculated with confimed cases and with those estimated by the capture-recapture method.
RESULTS: A total of 102 potential LHON cases were captured from healthcare information sources, 25 of them (24.5%) finally were confirmed after revision, with an overall PPV of 24.5% (95%CI 17.2-33.7). By source, the electronic clinical records of primary care had the highest PPV (51.2, 95%CI 36.7-65.4). The ophthalmologists clinical registry provided 22 cases, 12 of them not detected in the automatic capture sources. The clinical registry reached a sensitivity of 59.5% (95%CI 43.5-73.6) and the combination of automatic capture sources reached a 67.6% (95%CI: 51.5-80.4). The total confirmed cases were 37, with a mean age of 48.9 years, and a men: women ratio of 2.4:1. Genetic information was recovered in 27 cases, with the m.3460 mutation being the most frequent (12 cases). The global prevalence was 0.55 cases/100,000 inhabitants (95%CI 0.40-0.75), and with the capture-recapture method reached 0.79 cases/100,000 (95%CI 0.60-1.03), a 43.6% higher, 1.15 cases/100,000 (95%CI 0.83-1.58) in men and 0.43 cases/100,000 (95%CI 0.26-0.70) in women.
CONCLUSIONS: The prevalence of LHON estimated in the ACM was lower than in other European countries. Population-based registries of rare diseases require the incorporation of confirmed cases provided by clinicians to asure the best completeness of data. The use of more specific coding for rare diseases in healthcare information systems would facilitate the detection of cases. Further epidemiologic studies are needed to assess potential factors that may influence the penetrance of LHON.
摘要：
背景：Leber遗传性视神经病变（LHON）在年轻成人中通常表现为双侧无痛性亚急性视力丧失。患病率数据很少。这项研究的目的是检查在基于人群的罕见疾病登记处使用不同的确定来源来检测病例的有效性，并探讨捕获-再捕获方法在估计2022年马德里自治区（ACM）LHON患病率中的影响。
方法：描述性横断面基于人群的研究。潜在的LHON病例是通过从通常为罕见疾病区域登记处（SIERMA）探索的医疗保健信息来源自动捕获来检测的。眼科医生从他们的临床注册中提供了数据。用95%置信区间(CI)估计阳性预测值(PPV)和灵敏度。根据已确诊病例和通过捕获-再捕获方法估计的病例，计算了全球和性别的患病率。
结果：从医疗信息来源获取了102例潜在的LHON病例，其中25个(24.5%)最终在修订后得到确认，总PPV为24.5%（95CI17.2-33.7）。按来源,初级保健的电子临床记录的PPV最高(51.2,95CI36.7~65.4).眼科医生临床注册提供了22例，其中12个在自动捕获源中未检测到。临床注册达到59.5%的灵敏度（95CI43.5-73.6），自动捕获源的组合达到67.6%（95CI：51.5-80.4）。确诊病例总数为37例,平均年龄48.9岁,男性与女性的比例为2.4:1。在27例中恢复了遗传信息，m.3460突变最常见（12例）。全球患病率为0.55例/100,000居民（95CI0.40-0.75），捕获-再捕获方法达到0.79例/100,000（95CI0.60-1.03），高出43.6%，男性1.15例/100,000（95CI0.83-1.58），女性0.43例/100,000（95CI0.26-0.70）。
结论：在ACM中估计的LHON患病率低于其他欧洲国家。基于人群的罕见疾病登记需要纳入临床医生提供的确诊病例，以确保数据的最佳完整性。在医疗保健信息系统中对罕见疾病使用更具体的编码将有助于病例的检测。需要进一步的流行病学研究来评估可能影响LHON外显率的潜在因素。
方法：描述性横断面基于人群的研究。潜在的LHON病例是通过从通常为罕见疾病区域登记处（SIERMA）探索的医疗保健信息来源自动捕获来检测的。眼科医生从他们的临床注册中提供了数据。用95%置信区间(CI)估计阳性预测值(PPV)和灵敏度。根据已确诊病例和通过捕获-再捕获方法估计的病例，计算了全球和性别的患病率。
结果：从医疗信息来源获取了102例潜在的LHON病例，其中25个(24.5%)最终在修订后得到确认，总PPV为24.5%（95CI17.2-33.7）。按来源,初级保健的电子临床记录的PPV最高(51.2,95CI36.7~65.4).眼科医生临床注册提供了22例，其中12个在自动捕获源中未检测到。临床注册达到59.5%的灵敏度（95CI43.5-73.6），自动捕获源的组合达到67.6%（95CI：51.5-80.4）。确诊病例总数为37例,平均年龄48.9岁,男性与女性的比例为2.4:1。在27例中恢复了遗传信息，m.3460突变最常见（12例）。全球患病率为0.55例/100,000居民（95CI0.40-0.75），捕获-再捕获方法达到0.79例/100,000（95CI0.60-1.03），高出43.6%，男性1.15例/100,000（95CI0.83-1.58），女性0.43例/100,000（95CI0.26-0.70）。
结论：在ACM中估计的LHON患病率低于其他欧洲国家。基于人群的罕见疾病登记需要纳入临床医生提供的确诊病例，以确保数据的最佳完整性。在医疗保健信息系统中对罕见疾病使用更具体的编码将有助于病例的检测。需要进一步的流行病学研究来评估可能影响LHON外显率的潜在因素。
