{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:05:21Z","timestamp":1790697921846,"version":"4.1.0"},"reference-count":13,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T00:00:00Z","timestamp":1746835200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100017020","name":"Minnesota Lions Vision Foundation","doi-asserted-by":"publisher","award":["1701-11820-20090-UMF0011830"],"award-info":[{"award-number":["1701-11820-20090-UMF0011830"]}],"id":[{"id":"10.13039\/100017020","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Knobloch Chair Professorship","award":["1701-11820-20231-UMF0014654"],"award-info":[{"award-number":["1701-11820-20231-UMF0014654"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>\n                    <jats:bold>Purpose:<\/jats:bold>\n                    To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA.\n                    <jats:bold>Methods:<\/jats:bold>\n                    A single case was evaluated.\n                    <jats:bold>Results:<\/jats:bold>\n                    A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concerns for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of\n                    <jats:italic>SGSH<\/jats:italic>\n                    , 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 literature review support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    This case highlights the necessity for collaboration with genetic counselors and the value of a provider\u2019s 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.\n                  <\/jats:p>","DOI":"10.1177\/24741264251340108","type":"journal-article","created":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T05:16:32Z","timestamp":1746854192000},"page":"531-534","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Rare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa"],"prefix":"10.1177","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-4533-9828","authenticated-orcid":false,"given":"Josephine R.","family":"Seela","sequence":"first","affiliation":[{"name":"University of Minnesota Medical School, Twin Cities, Minneapolis, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jade Y.","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra R.","family":"Montezuma","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,5,10]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.5114\/pedm.2021.109270"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/S10545-008-0838-5"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-465"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker394"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1232-0"},{"key":"e_1_3_2_7_2","unstructured":"Invitae. Invitae inherited retinal disorders panel. Updated 2025. Accessed July 20 2024. https:\/\/www.invitae.com\/us\/providers\/test-catalog\/test-72100"},{"key":"e_1_3_2_8_2","unstructured":"Invitae Corporation. Invitae\u2019s method of variant classification. Rev. 1.0.1. Published 2014. Accessed July 20 2024. https:\/\/www.invitae.com\/static\/data\/WhitePaper_Variant-Classification-Method.pdf."},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S78368"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv118"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31822"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63517"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1028647"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.12.004"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264251340108","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264251340108","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264251340108","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:25:48Z","timestamp":1790695548000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264251340108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,10]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1177\/24741264251340108"],"URL":"https:\/\/doi.org\/10.1177\/24741264251340108","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,10]]}}}