{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:10:36Z","timestamp":1778753436930,"version":"3.51.4"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,8,19]]},"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:p>A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6\/36 bilaterally, with absent colour vision and gross optic disc pallor. Her HbA1c was 94\u2009mmol\/mol (20\u201342). Visual evoked potentials were bilaterally symmetrically prolonged with P100 140 ms. Optical coherence tomography showed significant thinning of the peripapillary retinal nerve fibre layer. MR scan of brain and orbits showed small optic nerves and chiasm. Genetic testing confirmed a diagnosis of autosomal recessive Wolfram syndrome-1. She is currently registered blind. We review the clinical and genetic features of Wolfram syndrome.<\/jats:p>","DOI":"10.1136\/pn-2025-004764","type":"journal-article","created":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T04:35:45Z","timestamp":1757478945000},"page":"267-271","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Diabetes and optic atrophy in a young adult: consider Wolfram syndrome"],"prefix":"10.1136","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7102-6809","authenticated-orcid":false,"given":"Angela","family":"Yan","sequence":"first","affiliation":[{"name":"Neurology Department, Croydon University Hospital, London, England, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederick","family":"Schon","sequence":"additional","affiliation":[{"name":"Neurology Department, Croydon University Hospital, London, England, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7847-9320","authenticated-orcid":false,"given":"Patrick","family":"Yu-Wai-Man","sequence":"additional","affiliation":[{"name":"Ophthalmology, University of Cambridge John van Geest Centre for Brain Repair, Cambridge, England, UK"},{"name":"Ophthalmology, Moorfields Eye Hospital City Road Campus, London, England, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6392-4927","authenticated-orcid":false,"given":"Arani","family":"Nitkunan","sequence":"additional","affiliation":[{"name":"Neurology Department, Croydon University Hospital, London, England, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,9]]},"reference":[{"key":"2026051402150809000_26.3.267.1","first-page":"26330040211039518","article-title":"Wolfram syndrome: new pathophysiological insights and therapeutic strategies","volume":"2","author":"Mishra","year":"2021","journal-title":"Ther Adv Rare Dis"},{"key":"2026051402150809000_26.3.267.2","doi-asserted-by":"crossref","DOI":"10.3390\/ijerph19063225","article-title":"Wolfram Syndrome 1: From Genetics to Therapy","volume":"19","author":"Rigoli","year":"2022","journal-title":"Int J Environ Res Public Health"},{"key":"2026051402150809000_26.3.267.3","doi-asserted-by":"crossref","unstructured":"Wolfram DJ , Wagener HP . Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clinic Proceedings; 1938","DOI":"10.1016\/S0025-6196(26)04711-7"},{"key":"2026051402150809000_26.3.267.4","doi-asserted-by":"crossref","first-page":"835","DOI":"10.3390\/ijerph19020835","article-title":"Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum","volume":"19","author":"Rosanio","year":"2022","journal-title":"Int J Environ Res Public Health"},{"key":"2026051402150809000_26.3.267.5","doi-asserted-by":"crossref","DOI":"10.1007\/s11892-015-0702-6","article-title":"Wolfram Syndrome: Diagnosis, Management, and Treatment","volume":"16","author":"Urano","year":"2016","journal-title":"Curr Diab Rep"},{"key":"2026051402150809000_26.3.267.6","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.ajo.2022.04.003","article-title":"WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression","volume":"241","author":"Majander","year":"2022","journal-title":"Am J Ophthalmol"},{"key":"2026051402150809000_26.3.267.7","doi-asserted-by":"crossref","DOI":"10.3390\/biom13091346","article-title":"Genomics of Wolfram Syndrome 1 (WFS1)","volume":"13","author":"K\u00f5ks","year":"2023","journal-title":"Biomolecules"},{"key":"2026051402150809000_26.3.267.8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00418-003-0495-6","article-title":"The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells","volume":"119","author":"Cryns","year":"2003","journal-title":"Histochem Cell Biol"},{"key":"2026051402150809000_26.3.267.9","doi-asserted-by":"publisher","DOI":"10.1086\/520961"},{"key":"2026051402150809000_26.3.267.10","unstructured":"Clinicaltrials.gov. 2025. Available: https:\/\/clinicaltrials.gov\/search?cond=Wolfram%20Syndrome&page=1"},{"key":"2026051402150809000_26.3.267.11","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2024-091495","article-title":"Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial","volume":"15","author":"Dias","year":"2025","journal-title":"BMJ Open"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2025-004764","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T09:15:23Z","timestamp":1778750123000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2025-004764"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,9]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,5,14]]},"published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1136\/pn-2025-004764"],"URL":"https:\/\/doi.org\/10.1136\/pn-2025-004764","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,9]]}}}