Department of Ophthalmology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori, 036-8562, Japan.
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Jpn J Ophthalmol. 2024 May;68(3):167-173. doi: 10.1007/s10384-024-01060-8. Epub 2024 Apr 3.
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).
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).
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.
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.
本研究旨在估算日本因各种类型黄斑营养不良（包括 Best 先天性类卵黄样视网膜病变、Stargardt 病、隐匿性黄斑营养不良、圆锥-杆状细胞营养不良、X 连锁性视锥-视杆营养不良和中心性晕状脉络膜营养不良）而就诊的眼科患者人数。
全国性流行病学调查
向日本 965 家主要医疗机构（包括所有大学医院）发放问卷。问卷旨在确定过去 5 年（2015 年 1 月至 2019 年 12 月）期间在门诊就诊的各类黄斑营养不良患者人数。
超过 70%的患者在大学医院被诊断和随访。预计每年新诊断的病例数如下：55.3 例 Best 先天性类卵黄样视网膜病变、36.7 例 Stargardt 病、35.8 例隐匿性黄斑营养不良、160.6 例圆锥-杆状细胞营养不良、31.0 例 X 连锁性视锥-视杆营养不良、29.8 例中心性晕状脉络膜营养不良，以及 174.1 例其他类型黄斑营养不良。在主要医疗机构被诊断和随访的黄斑营养不良患者总数估计为 6651 例。
这是日本首次对黄斑营养不良进行的全国性调查，提供了受影响患者的大致数量。黄斑营养不良的诊断主要在附属专家（如大学医院）的医疗机构进行。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的发病率。
