Josephine R Seela, Jade Y Moon, Sandra R Montezuma
{"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}
引用次数: 0
Abstract
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.