Josephine R Seela, Jade Y Moon, Sandra R Montezuma
{"title":"罕见的减毒粘多糖病IIIA型表现为孤立性色素性视网膜炎。","authors":"Josephine R Seela, Jade Y Moon, Sandra R Montezuma","doi":"10.1177/24741264251340108","DOIUrl":null,"url":null,"abstract":"<p><p><b>Purpose:</b> To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of <i>SGSH</i>, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. <b>Conclusions:</b> This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.</p>","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":" ","pages":"24741264251340108"},"PeriodicalIF":0.5000,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065709/pdf/","citationCount":"0","resultStr":"{\"title\":\"Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.\",\"authors\":\"Josephine R Seela, Jade Y Moon, Sandra R Montezuma\",\"doi\":\"10.1177/24741264251340108\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Purpose:</b> To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. <b>Methods:</b> A single case was evaluated. <b>Results:</b> A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of <i>SGSH</i>, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. <b>Conclusions:</b> This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.</p>\",\"PeriodicalId\":17919,\"journal\":{\"name\":\"Journal of VitreoRetinal Diseases\",\"volume\":\" \",\"pages\":\"24741264251340108\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2025-05-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065709/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of VitreoRetinal Diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/24741264251340108\",\"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/10.1177/24741264251340108","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.
Purpose: To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. Methods: A single case was evaluated. Results: A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concern for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of SGSH, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough review of the literature support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. Conclusions: This case highlights the necessity for collaboration with genetic counselors and the value of a provider's clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.