Nationwide epidemiologic survey on incidence of macular dystrophy in Japan

IF 2.1 3区医学 Q2 OPHTHALMOLOGY Japanese Journal of Ophthalmology Pub Date : 2024-04-03 DOI:10.1007/s10384-024-01060-8

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Abstract

Purpose

The aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various types, including Best vitelliform macular dystrophy (BVMD), Stargardt disease, occult macular dystrophy (OMD), cone (-rod) dystrophy, X-linked retinoschisis (XLRS), and central areolar choroid dystrophy (CACD).

Study design

Nationwide epidemiologic survey

Methods

Questionnaires were distributed to 965 major facilities, including all the university hospitals in Japan. The aim of the questionnaire was to determine the number of patients with each type of macular dystrophy who had visited an outpatient clinic during the past 5 years (January 2015 to December 2019).

Results

Over 70% of the patients were diagnosed and followed up at university hospitals. The estimated annual number of newly diagnosed cases was as follows: 55.3 for BVMD, 36.7 for Stargardt disease, 35.8 for OMD, 160.6 for cone (-rod) dystrophy, 31.0 for XLRS, 29.8 for CACD, and 174.1 for other types of macular dystrophy. The total number of patients with macular dystrophy diagnosed and followed at major institutions was estimated to be 6651.

Conclusion

This was the first nationwide survey of macular dystrophy in Japan and provided an approximate number of affected patients. The diagnosis of macular dystrophy is primarily carried out at facilities with affiliated specialists, such as university hospitals. By examining the incidence of multiple diseases simultaneously, we were able to compare the incidence of each type of macular dystrophy.

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日本黄斑营养不良发病率全国流行病学调查

摘要目的本研究旨在估算日本因各种类型的黄斑营养不良症（包括最佳玻璃体黄斑营养不良症 (BVMD)、Stargardt 病、隐性黄斑营养不良症 (OMD)、锥体 (-rod) 营养不良症、X 连锁视网膜裂孔症 (XLRS) 和中央乳晕脉络膜营养不良症 (CACD)）而就诊的患者人数。研究设计全国性流行病学调查方法向包括日本所有大学医院在内的 965 家主要机构发放问卷。问卷调查的目的是确定在过去5年（2015年1月至2019年12月）中到门诊就诊的各类型黄斑营养不良症患者的人数。结果超过70%的患者在大学医院得到诊断和随访。每年新诊断病例的估计数量如下：BVMD为55.3例，Stargardt病为36.7例，OMD为35.8例，圆锥（-杆）营养不良症为160.6例，XLRS为31.0例，CACD为29.8例，其他类型的黄斑营养不良症为174.1例。在主要医疗机构确诊并接受随访的黄斑营养不良症患者总数估计为 6651 人。结论这是日本首次在全国范围内对黄斑营养不良症进行调查，提供了受影响患者的大致人数。黄斑营养不良症的诊断主要在大学医院等有附属专科的机构进行。通过同时检查多种疾病的发病率，我们能够比较每种黄斑营养不良症的发病率。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Japanese Journal of Ophthalmology 医学-眼科学

CiteScore

4.80

自引率

8.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Japanese Journal of Ophthalmology (JJO) was inaugurated in 1957 as a quarterly journal published in English by the Ophthalmology Department of the University of Tokyo, with the aim of disseminating the achievements of Japanese ophthalmologists worldwide. JJO remains the only Japanese ophthalmology journal published in English. In 1997, the Japanese Ophthalmological Society assumed the responsibility for publishing the Japanese Journal of Ophthalmology as its official English-language publication. Currently the journal is published bimonthly and accepts papers from authors worldwide. JJO has become an international interdisciplinary forum for the publication of basic science and clinical research papers.