{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:55:51Z","timestamp":1790610951938,"version":"4.1.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"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 neuropathies are primarily disorders of mitochondrial dysfunction leading to the metabolic failure of the highly energy-dependent retinal ganglion cells. Beyond the canonical variants found in OPA1 or the mitochondrial genome, a growing subset of patients exhibits progressive optic atrophy of unknown origin. Identifying these variants is critical, as they might lead to a diagnostic delay. We report 2 cases with previously unreported MT-RNR1 variants, potentially contributing to a hereditary optic neuropathy. Case Presentations: A 55-year-old woman with painless progressive optic neuropathy presented with bilateral central scotomas and temporal optic disc pallor. Nutritional, inflammatory, and demyelinating causes were excluded. Genetic testing revealed MT-RNR1:m.1019A&gt;G variant, potentially contributing to a hereditary optic neuropathy. A 59-year-old woman with similar bilateral temporal pallor and symmetric retinal nerve fiber layer thinning was found to harbor MT-RNR1:m.1183T&gt;C variant. Conclusion: MT-RNR1 gene variant was the possible cause of vision loss in these patients with mild vision loss and a clinical picture consistent with a hereditary optic neuropathy. Herein, we describe two novel variants and associated clinical features. This case report introduces a previously unrecognized genetic variant, potentially contributing to a hereditary optic neuropathy.<\/jats:p>","DOI":"10.1159\/000551049","type":"journal-article","created":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:00:53Z","timestamp":1771261253000},"page":"387-395","source":"Crossref","is-referenced-by-count":2,"title":["Two Novel Variants in MT-RNR1 Gene Associated with Hereditary Optic Neuropathy: 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":[[2026,2,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(22)00174-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/jcto2030006"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac395"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.2309"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108277"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2019.10.011"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0644-3"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/ijms231911991"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/antiox12020518"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1276-1"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10792-012-9623-4"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-018-0980-2"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2013.1430"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-307326"}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000551049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T16:00:45Z","timestamp":1777651245000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000551049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,16]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000551049","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31332469","asserted-by":"subject"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,16]]}}}