{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T16:29:46Z","timestamp":1787156986493,"version":"build-2736575974"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>Introduction: Hereditary optic neuropathy may be caused by various mitochondrial or nuclear DNA mutations affecting the mitochondrial function. A growing body of evidence shows that mutations in non-classical mitochondrial genes, including the ribosomal RNA genes MT-RNR1 and MT-RNR2, have been reported in patients with hereditary optic neuropathy, although their pathogenicity remains uncertain. Herein, we report a case initially diagnosed as normal tension glaucoma in which whole mtDNA sequencing identified 2 novel variants in MT-RNR1 and MT-RNR2. Case Presentation: A 36-year-old man was referred for glaucoma assessment but was found to have bilateral symmetric temporal optic disc pallor and retinal nerve fibre layer thinning that was inconsistent with a glaucomatous pattern. Intraocular pressure (IOP), Humphrey visual fields, colour vision, and pupillary responses were normal. Genetic testing was negative for the 3 primary Leber\u2019s hereditary optic neuropathy (LHON) mutations but identified MT-RNR1:m.990T&gt;C and MT-RNR2:m.2619A&gt;G, both at 99.5% heteroplasmy and classified as ACMG class 3. Visual function remained stable at 6-month follow-up. Conclusion: Neither MT-RNR1 and MT-RNR2 variants could be definitively linked to the hereditary optic neuropathy in this patient, and they are best regarded as findings of uncertain significance. This case highlights a diagnostic pitfall as non-glaucomatous optic disc pallor can be mistaken for normal tension glaucoma and underscores the diagnostic value of whole mtDNA sequencing when primary LHON screening is negative.<\/jats:p>","DOI":"10.1159\/000553606","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:00:39Z","timestamp":1784131239000},"page":"853-859","source":"Crossref","is-referenced-by-count":0,"title":["Novel Variants in Mitochondrial Ribosomal RNA Genes MT-RNR1 and MT-RNR2 Identified in Hereditary Optic Neuropathy Initially Presenting as Normal Tension Glaucoma: A Case Report"],"prefix":"10.1159","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-5756-7038","authenticated-orcid":false,"given":"Amanda","family":"Tran","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":[[2026,7,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3390\/jcto2030006"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00174-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac395"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2010.11.002"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.22608\/APO.2018293"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-020-04993-1"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2025.1584748"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108277"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000551049"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-002-0598-0"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000550116"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3390\/cells10071593"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2015.08.004"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007210"}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000553606","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T16:00:59Z","timestamp":1787155259000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000553606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,15]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000553606","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32993612","asserted-by":"subject"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,15]]}}}