{"title":"[光学相干断层扫描在Sjögren-Larsson综合征诊断中的应用]。","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":"{\"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}","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}
[Optical coherence tomography in Sjögren-Larsson Syndrome diagnosis].
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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