{"title":"一名接受酶替代疗法的 II 型黏多醣症患者的进行性视网膜病变：病例报告。","authors":"Margot C Wouters, Michel Van Lint","doi":"10.1097/ICB.0000000000001537","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT).</p><p><strong>Methods: </strong>This was a case report with clinical photography.</p><p><strong>Results: </strong>The authors report the case of a 27-year-old male patient with mucopolysaccharidosis type II whom they followed from 2019 to 2023. Throughout the follow-up, the authors noticed a slow increase of parafoveal outer retinal atrophy centripetally, which is reflected in a smaller hyperautofluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.</p><p><strong>Conclusion: </strong>Despite continuing long-term enzyme replacement treatment with idursulfase, the retinopathy associated with mucopolysaccharidosis type II progressed in the patient.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"259-263"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PROGRESSIVE RETINOPATHY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS TYPE II UNDERGOING ENZYME REPLACEMENT THERAPY: A CASE REPORT.\",\"authors\":\"Margot C Wouters, Michel Van Lint\",\"doi\":\"10.1097/ICB.0000000000001537\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>The aim of this study was to report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT).</p><p><strong>Methods: </strong>This was a case report with clinical photography.</p><p><strong>Results: </strong>The authors report the case of a 27-year-old male patient with mucopolysaccharidosis type II whom they followed from 2019 to 2023. Throughout the follow-up, the authors noticed a slow increase of parafoveal outer retinal atrophy centripetally, which is reflected in a smaller hyperautofluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.</p><p><strong>Conclusion: </strong>Despite continuing long-term enzyme replacement treatment with idursulfase, the retinopathy associated with mucopolysaccharidosis type II progressed in the patient.</p>\",\"PeriodicalId\":53580,\"journal\":{\"name\":\"Retinal Cases and Brief Reports\",\"volume\":\" \",\"pages\":\"259-263\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Retinal Cases and Brief Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ICB.0000000000001537\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001537","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
目的：报告一名正在接受伊都磺酸酶（一种酶替代疗法，ERT）治疗的II型粘多糖病患者眼底自发荧光（FAF）和眼相干断层扫描（OCT）结果的变化情况：方法：病例报告与临床摄影：我们报告了一名 27 岁男性 II 型粘多糖病患者的病例，我们对其进行了 2019-2023 年的随访。在整个随访过程中，我们注意到眼底旁视网膜外层向心性萎缩缓慢加重，这反映在较小的高自荧光环和视野测试中不断加重的环状散光。患者仍无症状：尽管长期使用伊都磺酸酶进行酶替代治疗，但患者的II型粘多糖病相关视网膜病变仍在发展。
PROGRESSIVE RETINOPATHY IN A PATIENT WITH MUCOPOLYSACCHARIDOSIS TYPE II UNDERGOING ENZYME REPLACEMENT THERAPY: A CASE REPORT.
Purpose: The aim of this study was to report the changing fundus autofluorescence (FAF) and ocular coherence tomographic (OCT) findings through time in a patient with mucopolysaccharidosis type II being treated with idursulfase, an enzyme replacement therapy (ERT).
Methods: This was a case report with clinical photography.
Results: The authors report the case of a 27-year-old male patient with mucopolysaccharidosis type II whom they followed from 2019 to 2023. Throughout the follow-up, the authors noticed a slow increase of parafoveal outer retinal atrophy centripetally, which is reflected in a smaller hyperautofluorescent ring and increasing ring scotoma on visual field testing. The patient remains asymptomatic.
Conclusion: Despite continuing long-term enzyme replacement treatment with idursulfase, the retinopathy associated with mucopolysaccharidosis type II progressed in the patient.
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