{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:59Z","timestamp":1756339559857,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,8,17]]},"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:p>A 54-year-old man with Klinefelter\u2019s syndrome presented to the neuro-ophthalmology clinic with progressive painless visual blurring in the right eye over 2 years. He was receiving intramuscular testosterone therapy for hypogonadism and hypromellose for dry eye. Acuity was reduced bilaterally, and the right optic nerve head appeared pale and asymmetrically cupped. Optical coherence tomography revealed loss of retinal nerve fibre layer thickness in the right eye and visual field testing showed a developing right-ring scotoma. Blood tests showed vitamin B<jats:sub>12<\/jats:sub> and folate deficiencies and polycythaemia. The patient was managed with intramuscular hydroxocobalamin, oral folate administration and re-initiation of his glaucoma medication. In Klinefelter\u2019s syndrome, signs of comorbid deficiency can be masked by the polycythaemic effect of testosterone therapy. For patients on long-term testosterone therapy, such as those with Klinefelter\u2019s syndrome, we recommend baseline ophthalmic examination and assessment, including intraocular pressure measurement, pachymetry, gonioscopy and screening 24-2 visual field testing.<\/jats:p>","DOI":"10.1136\/bcr-2021-244373","type":"journal-article","created":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T11:30:12Z","timestamp":1645788612000},"page":"e244373","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Visual loss and optic neuropathy in a patient with Klinefelter\u2019s syndrome, open-angle glaucoma, vitamin B<sub>12<\/sub> (cobalamin) and folate deficiency"],"prefix":"10.1136","volume":"15","author":[{"given":"Jyotin C","family":"Pandit","sequence":"first","affiliation":[{"name":"Eye Department, Great Western Hospital, Swindon, UK"},{"name":"Moor Eye Care, Marlborough, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-5708","authenticated-orcid":false,"given":"Thomas William","family":"McNally","sequence":"additional","affiliation":[{"name":"Moorfields Eye Department, St George's Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hani","family":"Hasan","sequence":"additional","affiliation":[{"name":"Eye Department, Great Western Hospital, Swindon, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel Leanna","family":"Pandit","sequence":"additional","affiliation":[{"name":"Moor Eye Care, Marlborough, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,2,25]]},"reference":[{"key":"2025082711005953000_15.2.e244373.1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.83"},{"key":"2025082711005953000_15.2.e244373.2","first-page":"347","article-title":"Klinefelter-Syndrom","volume":"110","author":"Nieschlag","year":"2013","journal-title":"Dtsch Arztebl Int"},{"key":"2025082711005953000_15.2.e244373.3","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-13528-4","article-title":"Aberrant ocular architecture and function in patients with Klinefelter syndrome","volume":"7","author":"Brand","year":"2017","journal-title":"Sci Rep"},{"key":"2025082711005953000_15.2.e244373.4","doi-asserted-by":"crossref","DOI":"10.1038\/srep25792","article-title":"Association between systemic oxidative stress and visual field damage in open-angle glaucoma","volume":"6","author":"Tanito","year":"2016","journal-title":"Sci Rep"},{"key":"2025082711005953000_15.2.e244373.5","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1097\/00061198-200310000-00007","article-title":"Influence of serum levels of sex hormones on intraocular pressure in menopausal women","volume":"12","author":"Toker","year":"2003","journal-title":"J Glaucoma"},{"key":"2025082711005953000_15.2.e244373.6","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1097\/IJG.0000000000001106","article-title":"Effects of sex hormones on ocular blood flow and intraocular pressure in primary open-angle glaucoma: a review","volume":"27","author":"Patel","year":"2018","journal-title":"J Glaucoma"},{"key":"2025082711005953000_15.2.e244373.7","unstructured":"Ankar A , Bhimji SS . Vitamin B12 deficiency (cobalamin), 2018. StatPearls. Available: http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28722952 [Accessed 26 Mar 2020]."},{"key":"2025082711005953000_15.2.e244373.8","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1007\/s00417-017-3632-y","article-title":"Vitamin B12 deficiency evaluation and treatment in severe dry eye disease with neuropathic ocular pain","volume":"255","author":"Ozen","year":"2017","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"2025082711005953000_15.2.e244373.9","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/afl150"},{"key":"2025082711005953000_15.2.e244373.10","doi-asserted-by":"crossref","DOI":"10.3390\/nu10030359","article-title":"The effect of vitamins on glaucoma: a systematic review and meta-analysis","volume":"10","author":"Ramdas","year":"2018","journal-title":"Nutrients"},{"key":"2025082711005953000_15.2.e244373.11","doi-asserted-by":"crossref","DOI":"10.3390\/nu10111786","article-title":"Testosterone-associated dietary pattern predicts low testosterone levels and hypogonadism","volume":"10","author":"Hu","year":"2018","journal-title":"Nutrients"},{"key":"2025082711005953000_15.2.e244373.12","doi-asserted-by":"crossref","DOI":"10.3390\/nu12092653","article-title":"Nutritional optic neuropathies: state of the art and emerging evidences","volume":"12","author":"Roda","year":"2020","journal-title":"Nutrients"},{"key":"2025082711005953000_15.2.e244373.13","doi-asserted-by":"crossref","DOI":"10.1186\/1752-1947-2-299","article-title":"Folic acid deficiency optic neuropathy: a case report","volume":"2","author":"de Silva","year":"2008","journal-title":"J Med Case Rep"},{"key":"2025082711005953000_15.2.e244373.14","doi-asserted-by":"crossref","first-page":"331","DOI":"10.4103\/2230-8210.95659","article-title":"The eye as a window to rare endocrine disorders","volume":"16","author":"Chopra","year":"2012","journal-title":"Indian J Endocrinol Metab"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-244373","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:01:09Z","timestamp":1756317669000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-244373"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2,25]]},"published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1136\/bcr-2021-244373"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-244373","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,2]]}}}