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Our report aims to demonstrate one such association causing an alteration in serine metabolism leading to neuropathy and maculopathy secondary to Muller cell degeneration.<\/jats:p>","DOI":"10.1136\/bcr-2023-259447","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T12:40:15Z","timestamp":1781872815000},"page":"e259447","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Exudative variant of non-proliferative MacTel type 2A in a\n                    <i>SPTLC2<\/i>\n                    carrier with hereditary sensory and autonomic neuropathy"],"prefix":"10.1136","volume":"19","author":[{"given":"Chokkahalli Krishnappa","family":"Nagesha","sequence":"first","affiliation":[{"name":"VitreoRetina, Narayana Nethralaya, Bangalore, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8392-7159","authenticated-orcid":false,"given":"Chaitra","family":"Jayadev","sequence":"additional","affiliation":[{"name":"VitreoRetina, Narayana Nethralaya, Bangalore, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayushi","family":"Choudhary","sequence":"additional","affiliation":[{"name":"VitreoRetina, Narayana Nethralaya, Bangalore, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,6,19]]},"reference":[{"key":"2026061905400803000_19.6.e259447.1","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200410000-00007"},{"key":"2026061905400803000_19.6.e259447.2","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1001\/jamaophthalmol.2018.3283","article-title":"Genetic Penetrance of Macular Telangiectasia Type 2","volume":"136","author":"Ronquillo","year":"2018","journal-title":"JAMA Ophthalmol"},{"key":"2026061905400803000_19.6.e259447.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3799"},{"key":"2026061905400803000_19.6.e259447.4","doi-asserted-by":"crossref","first-page":"931","DOI":"10.3390\/genes14040931","article-title":"Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family","volume":"14","author":"Wilson","year":"2023","journal-title":"Genes (Basel)"},{"key":"2026061905400803000_19.6.e259447.5","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/jns.12315","article-title":"Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias","volume":"24","author":"Triplett","year":"2019","journal-title":"J Peripher Nerv Syst"},{"key":"2026061905400803000_19.6.e259447.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1815111"},{"key":"2026061905400803000_19.6.e259447.7","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2019-315093"},{"key":"2026061905400803000_19.6.e259447.8","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2016-309237"},{"key":"2026061905400803000_19.6.e259447.9","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1097\/IAE.0000000000000159","article-title":"Risk of central serous chorioretinopathy in adults prescribed oral corticosteroids: a population-based study in Taiwan","volume":"34","author":"Tsai","year":"2014","journal-title":"Retina"},{"key":"2026061905400803000_19.6.e259447.10","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ajo.2017.10.009","article-title":"The Expanded Spectrum of Perifoveal Exudative Vascular Anomalous Complex","volume":"184","author":"Sacconi","year":"2017","journal-title":"Am J Ophthalmol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259447","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T12:40:16Z","timestamp":1781872816000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6,19]]},"published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1136\/bcr-2023-259447"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259447","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]}}}