{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:18:35Z","timestamp":1787239115043,"version":"build-2736575974"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>Introduction: Leber hereditary optic neuropathy (LHON) is a hereditary optic neuropathy mainly caused by mutations at 1,178, 14,484, and 3,460 in mitochondrial DNA. Patients with LHON have a higher risk of developing multiple sclerosis (MS), a coexistence also known as Harding\u2019s syndrome. A growing body of evidence shows that other mitochondrial and non-mitochondrial mutations can lead to LHON and Harding\u2019s syndrome. Herein, we report a novel mutation in MT-RNR2 resulting in LHON. Case Presentation: A 35-year-old woman with bilateral painless optic neuropathy presented to neuro-ophthalmology clinic. Her blood work-up did not reveal any nutritional deficiencies, and she did not respond to steroid therapy. Genetic test revealed a m.1737A&gt;G mutation in MT-RNR2 gene with 99.9% penetrance; therefore, she was diagnosed with LHON. Conclusion: MT-RNR2 gene mutation was the possible cause for LHON in this patient. Herein, we describe a novel mutation and associated clinical features. This case report also underscores the importance of considering LHON as a differential diagnosis for optic neuritis, even in a patient with an established MS.<\/jats:p>","DOI":"10.1159\/000550116","type":"journal-article","created":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T17:03:10Z","timestamp":1766077390000},"page":"75-80","source":"Crossref","is-referenced-by-count":1,"title":["Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report"],"prefix":"10.1159","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9305-490X","authenticated-orcid":false,"given":"Sara","family":"KamaliZonouzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4911-9152","authenticated-orcid":false,"given":"Jonathan","family":"Micieli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,12,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1080\/14992020802215862"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.22336\/rjo.2019.14"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.22608\/APO.2018293"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt490"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2010.11.002"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2695"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.04.014"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2015.08.004"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1142\/9789814644730_0024"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S62021"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0520"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2147\/EB.S470184"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027750"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20135"}],"updated-by":[{"DOI":"10.1159\/000551159","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000}}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000550116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T17:01:01Z","timestamp":1768928461000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000550116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,18]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000550116","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30909326","asserted-by":"subject"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,18]]}}}