{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:01:40Z","timestamp":1777942900150,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmologica"],"abstract":"<jats:p>Biotinidase deficiency is an autosomal recessively inherited metabolic disorder characterized by neurological and cutaneous manifestations and metabolic abnormalities. We studied 78 symptomatic children and found that 51% had ophthalmologic abnormalities. These include infections (30%), optic neuropathies and visual disturbances (13%), motility disturbances (13%), retinal pigment changes (4%) and pupillary findings (1%). The most commonly reported findings are optic atrophy and keratoconjunctivities. Although the disorder can be effectively treated with biotin therapy, untreated children are at risk of developing permanent neuro-ophthalmic damage.<\/jats:p>","DOI":"10.1159\/000310387","type":"journal-article","created":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T02:58:42Z","timestamp":1270090722000},"page":"177-181","source":"Crossref","is-referenced-by-count":30,"title":["Ophthalmologic Findings in Biotinidase Deficiency"],"prefix":"10.1159","author":[{"given":"Bonnie Anne","family":"Salbert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Astruc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,4,1]]},"container-title":["Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000310387","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:10:08Z","timestamp":1777705808000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000310387"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,1]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000310387","archive":["Portico"],"relation":{},"ISSN":["0030-3755","1423-0267"],"issn-type":[{"value":"0030-3755","type":"print"},{"value":"1423-0267","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,1]]}}}