{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:06:20Z","timestamp":1790697980407,"version":"4.1.0"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Retina Rising Professorship"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"abstract":"<jats:p>\n                    <jats:bold>Purpose:<\/jats:bold>\n                    To describe the expanding genotypic and phenotypic spectrum of isolated\n                    <jats:italic toggle=\"yes\">HGSNAT<\/jats:italic>\n                    -related retinitis pigmentosa (RP).\n                    <jats:bold>Methods:<\/jats:bold>\n                    This retrospective case series included 3 patients with\n                    <jats:italic toggle=\"yes\">HGSNAT<\/jats:italic>\n                    -related RP who presented to the Wilmer Eye Institute. Medical records and multimodal imaging findings were reviewed.\n                    <jats:bold>Results:<\/jats:bold>\n                    Three patients were identified, aged 39 to 66 years. Symptom duration before presentation ranged from 3 months to 5 years, and best-corrected visual acuity ranged from 20\/20 to 20\/125. All 3 patients harbored the c.1843G&gt;A (p.Ala615Thr) or the novel c.1102A&gt;T (p.Lys368*)\n                    <jats:italic toggle=\"yes\">HGSNAT<\/jats:italic>\n                    pathogenic variants and demonstrated wide phenotypic heterogeneity.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    This case series illustrates the diverse clinical presentations within the spectrum of\n                    <jats:italic toggle=\"yes\">HGSNAT<\/jats:italic>\n                    -related RP and highlights the diagnostic challenges posed by cases with minimal fundoscopic abnormalities.\n                  <\/jats:p>","DOI":"10.1177\/24741264261457975","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T10:43:14Z","timestamp":1782297794000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Spectrum of Heparan-\u03b1-glucosaminide N-acetyltransferase-Associated Nonsyndromic Retinitis Pigmentosa"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5856-6686","authenticated-orcid":false,"given":"Maria Ludovica","family":"Ruggeri","sequence":"first","affiliation":[{"name":"Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Halawa","sequence":"additional","affiliation":[{"name":"Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishrat","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1159\/000072043"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/508294"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-43"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.93510"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0717-y"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S57672"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000001193"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1755986"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv118"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31822"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2023.2245035"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes8100256"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.167546"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.119"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261457975","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264261457975","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261457975","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:25:55Z","timestamp":1790695555000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264261457975"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,24]]},"references-count":15,"alternative-id":["10.1177\/24741264261457975"],"URL":"https:\/\/doi.org\/10.1177\/24741264261457975","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,24]]},"article-number":"24741264261457975"}}