{"title":"[Optical coherence tomography in Sjögren-Larsson Syndrome diagnosis].","authors":"I Loukil, O Naija, F Hachicha","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To study the clinical and the optical coherence tomography (OCT) features of crystalline_macular dystrophy in a 14-year-old man with Sjögren-Larsson syndrome (SLS).</p><p><strong>Case report: </strong>A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. A bilateral crystalline maculopathy was detected by fundus ophthalmoscopy. OCT showed bilateral focal perifoveal hyperreflectivities and microcystoid spaces.</p><p><strong>Discussion-conclusion: </strong>OCT features of the crystalline maculopathy could point at SLS in undiagnosed patients. It is a low cost and non invasive procedure that could be of value in elucidating the pathophysiological mechanisms of SLS.</p>","PeriodicalId":9308,"journal":{"name":"Bulletin de la Societe belge d'ophtalmologie","volume":" 320","pages":"11-5"},"PeriodicalIF":0.0000,"publicationDate":"2012-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bulletin de la Societe belge d'ophtalmologie","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose: To study the clinical and the optical coherence tomography (OCT) features of crystalline_macular dystrophy in a 14-year-old man with Sjögren-Larsson syndrome (SLS).
Case report: A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. A bilateral crystalline maculopathy was detected by fundus ophthalmoscopy. OCT showed bilateral focal perifoveal hyperreflectivities and microcystoid spaces.
Discussion-conclusion: OCT features of the crystalline maculopathy could point at SLS in undiagnosed patients. It is a low cost and non invasive procedure that could be of value in elucidating the pathophysiological mechanisms of SLS.
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