{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:44:11Z","timestamp":1792161851071,"version":"4.4.0"},"reference-count":14,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100018133","name":"VitreoRetinal Surgery Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018133","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["Unrestricted Grant"],"award-info":[{"award-number":["Unrestricted Grant"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["NEI P30 EY010572"],"award-info":[{"award-number":["NEI P30 EY010572"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006668","name":"Oregon Health and Science University","doi-asserted-by":"publisher","award":["Malcolm M. Marquis, MD Endowed Fund for Innovation"],"award-info":[{"award-number":["Malcolm M. Marquis, MD Endowed Fund for Innovation"]}],"id":[{"id":"10.13039\/100006668","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To report the long-term follow-up of macular telangiectasia type 2-like disease in a patient with hereditary sensory and autonomic neuropathy 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A single case was reviewed over 15 years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A 48-year-old White woman with chronic peripheral neuropathy and fractures presented with worsening blurry vision. Best-corrected visual acuity (BCVA) was 20\/70 OD and 20\/25 OS. Initial examination showed bilateral subfoveal retinal cavitation and pseudovitelliform lesions, with cone dysfunction on multifocal electroretinography. Genetic testing demonstrated a serine palmitoyl transferase mutation consistent with hereditary sensory and autonomic neuropathy 1. Over 15 years, bilateral full-thickness macular holes, retinal pigmentary changes, and outer retinal veno-venous anastomoses developed. BCVA was 20\/70 OU. Bilateral vitrectomy with inverted internal limiting membrane flaps improved BCVA to 20\/60 OD and 20\/50 OS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Hereditary sensory and autonomic neuropathy 1 can cause macular telangiectasia type 2-like maculopathy with atypical features but a long-term course similar to that of sporadic macular telangiectasia type 2, including macular hole formation. Genetic testing for hereditary sensory and autonomic neuropathy 1 should be considered when early peripheral neuropathy precedes macular disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/24741264261496254","type":"journal-article","created":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T14:47:39Z","timestamp":1791989259000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Longitudinal Follow-Up of Macular Telangiectasis Type 2-Like Maculopathy in Hereditary Sensory and Autonomic Neuropathy Type 1"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8730-6859","authenticated-orcid":false,"given":"Ogul E.","family":"Uner","sequence":"first","affiliation":[{"name":"Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA"},{"name":"Northwest Permanente, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2029-8671","authenticated-orcid":false,"given":"Kaiyo","family":"Shi","sequence":"additional","affiliation":[{"name":"Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald P.","family":"Davis","sequence":"additional","affiliation":[{"name":"Northwest Permanente, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9876-4406","authenticated-orcid":false,"given":"Aristomenis","family":"Thanos","sequence":"additional","affiliation":[{"name":"Devers Eye Institute, Legacy Health, Portland, OR, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,10,14]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S373538"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2010.02.013"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3799"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1815111"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2011-301009"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3205\/oc000031"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12508"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes14040931"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2023.101716"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-232325"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-307941"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000442807"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2023.08.025"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006811"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261496254","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264261496254","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264261496254","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:47:20Z","timestamp":1792158440000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264261496254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,14]]},"references-count":14,"alternative-id":["10.1177\/24741264261496254"],"URL":"https:\/\/doi.org\/10.1177\/24741264261496254","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,14]]},"article-number":"24741264261496254"}}