{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T06:26:22Z","timestamp":1784874382588,"version":"3.55.0"},"reference-count":39,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,3,15]],"date-time":"2025-03-15T00:00:00Z","timestamp":1741996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Leber hereditary optic neuropathy (LHON) is often misdiagnosed in its early stages as idiopathic single isolated optic neuritis (SION) or multiple-sclerosis-associated optic neuritis (MS-ON) due to the young age of the patients, the subacute vision loss, and the central visual field defect. The aim of this retrospective study was to evaluate changes in the peripapillary RNFL and GCLT over time in patients with early LHON, MS-ON, and SION in order to differentiate Leber hereditary optic neuropathy (LHON) from optic neuritis (ON) in the early stages of the disease. Methods: Patients with LHON and ON (either idiopathic single isolated optic neuritis (SION) or ON as the first symptom of relapsing\u2013remitting multiple sclerosis (MS-ON) were included. Optical coherence tomography (OCT) scans were reviewed. The inclusion criteria were at least one follow-up OCT examination and a definite diagnosis after examination. Changes in the peripapillary retinal nerve fibre layer (RNFL) and macular ganglion cell layer thickness (GCLT) in both groups were evaluated over time and compared with normative data. The analysis focused on the early phase (0\u201345 days) after symptom onset. Results: Nine LHON patients with early OCT scans and twenty patients with ON were included. Quantitative OCT analysis showed greater RNFL swelling in LHON compared to ON during the first 60 days after symptom onset. Between day 61 and day 120, subnormal RNFL values were observed in both groups compared to controls. Thereafter, the RNFL decreased continuously and severely in the LHON group. The RNFL of ON patients did not show a clear progression after day 120. The GCLT in five LHON eyes showed a strong and solid decrease from day 0 to day 45, which was stronger than the moderate atrophy measured in ON eyes. Continuous GCL atrophy was measured until day 121 in LHON, after which a floor effect was reached. The GCLT in the inner nasal and inner inferior sectors was significantly smaller in LHON compared to ON patients on days 0\u201345. Conclusions: Thinning of the GCLT occurs at an early stage in LHON patients. Thus, GCLT may become a diagnostic tool to differentiate LHON from ON in the early phase of disease.<\/jats:p>","DOI":"10.3390\/jcm14061998","type":"journal-article","created":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T04:29:28Z","timestamp":1742185768000},"page":"1998","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis"],"prefix":"10.3390","volume":"14","author":[{"given":"Julian A.","family":"Zimmermann","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin Dominik","family":"Leclaire","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8063-6548","authenticated-orcid":false,"given":"Jens Julian","family":"Storp","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias J.","family":"Brix","sequence":"additional","affiliation":[{"name":"Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Eter","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Kr\u00e4mer","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5510-3857","authenticated-orcid":false,"given":"Julia","family":"Biermann","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"},{"name":"Faculty of Medicine Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany"},{"name":"Department of Ophthalmology, Klinikum Bielefeld gem. GmbH, 33604 Bielefeld, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S0140-6736(06)68970-8","article-title":"Mitochondrial disease","volume":"368","author":"Schapira","year":"2006","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00109-023-02389-2","article-title":"Progress in diagnosis and treatment of Leber\u2019s hereditary optic neuropathy","volume":"102","author":"Ma","year":"2024","journal-title":"J. Mol. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"104821","DOI":"10.1016\/j.ejmg.2023.104821","article-title":"Autosomal recessive Leber\u2019s hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene","volume":"66","author":"Mauring","year":"2023","journal-title":"Eur. J. Med. 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