{"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}
引用次数: 0
Abstract
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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