Serena Shah, Francisco Lopez-Font, Jason Fan, Natasha Ferreira Santos da Cruz, Patrick Staropoli, Catherin Negron, Audina M Berrocal
{"title":"COL2A1突变导致Stickler综合征相关的儿童黄斑视网膜萎缩。","authors":"Serena Shah, Francisco Lopez-Font, Jason Fan, Natasha Ferreira Santos da Cruz, Patrick Staropoli, Catherin Negron, Audina M Berrocal","doi":"10.1177/24741264241309682","DOIUrl":null,"url":null,"abstract":"<p><p><b>Purpose:</b> To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed <i>COL2A1</i> mutation. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye. Optical coherence tomography (OCT) showed macular chorioretinal atrophy and retinal thinning in the right eye. <b>Conclusions:</b> Macular chorioretinal atrophy can occur in Stickler syndrome. OCT imaging can be an important tool to characterize and differentiate these lesions from infectious or degenerative processes. These macular findings in collagen disorders can affect vision, making disease identification essential for early diagnosis and management.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264241309682"},"PeriodicalIF":0.5000,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686495/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>COL2A1</i> Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.\",\"authors\":\"Serena Shah, Francisco Lopez-Font, Jason Fan, Natasha Ferreira Santos da Cruz, Patrick Staropoli, Catherin Negron, Audina M Berrocal\",\"doi\":\"10.1177/24741264241309682\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Purpose:</b> To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed <i>COL2A1</i> mutation. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye. Optical coherence tomography (OCT) showed macular chorioretinal atrophy and retinal thinning in the right eye. <b>Conclusions:</b> Macular chorioretinal atrophy can occur in Stickler syndrome. OCT imaging can be an important tool to characterize and differentiate these lesions from infectious or degenerative processes. These macular findings in collagen disorders can affect vision, making disease identification essential for early diagnosis and management.</p>\",\"PeriodicalId\":17919,\"journal\":{\"name\":\"Journal of VitreoRetinal Diseases\",\"volume\":\" \",\"pages\":\"24741264241309682\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-12-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686495/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of VitreoRetinal Diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/24741264241309682\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of VitreoRetinal Diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/24741264241309682","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Purpose: To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed COL2A1 mutation. Methods: A single case was evaluated. Results: A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye. Optical coherence tomography (OCT) showed macular chorioretinal atrophy and retinal thinning in the right eye. Conclusions: Macular chorioretinal atrophy can occur in Stickler syndrome. OCT imaging can be an important tool to characterize and differentiate these lesions from infectious or degenerative processes. These macular findings in collagen disorders can affect vision, making disease identification essential for early diagnosis and management.
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