{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T20:41:02Z","timestamp":1771015262809,"version":"3.50.1"},"reference-count":34,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:p>\n                  <jats:bold>Introduction:<\/jats:bold> Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the <jats:italic>MYOCILIN<\/jats:italic> (<jats:italic>MYOC<\/jats:italic>) and <jats:italic>OPTINEURIN<\/jats:italic> genes account for rare forms with a Mendelian inheritance and for &lt;5% of all POAG cases. The <jats:italic>CYP1B1<\/jats:italic> gene, a member of the cytochrome P450 gene family, is a major cause of primary congenital glaucoma (PCG), a rare and severely blinding disease with recessive inheritance. However, <jats:italic>CYP1B1<\/jats:italic> mutations have also been associated with cases of juvenile-onset glaucoma in some PCG families or shown to modify the age of onset of glaucoma linked to a <jats:italic>MYOC<\/jats:italic> mutation in a large family.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Objective:<\/jats:bold> To investigate the role of <jats:italic>CYP1B1<\/jats:italic> mutations in POAG predisposition, irrespective of the presence of a <jats:italic>MYOC<\/jats:italic> mutation.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods and subjects:<\/jats:bold>\n                  <jats:italic>CYP1B1<\/jats:italic> coding region variation was characterised by denaturing high performance liquid chromatography (DHPLC) and sequencing in 236 unrelated French Caucasian POAG patients and 47 population-matched controls.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Eleven (4.6%) patients carried one or two mutated <jats:italic>CYP1B1<\/jats:italic> gene(s) and no MYOC mutation. They showed juvenile or middle-age onset of disease (median age at diagnosis, 40 years, range 13\u201352), significantly earlier than in non-carrier patients. Apart from one, all mutations detected in POAG patients were previously associated with PCG.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold>\n                  <jats:italic>CYP1B1<\/jats:italic> mutations might pose a significant risk for early-onset POAG and might also modify glaucoma phenotype in patients who do not carry a <jats:italic>MYOC<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1136\/jmg.2004.020024","type":"journal-article","created":{"date-parts":[[2004,9,1]],"date-time":"2004-09-01T09:53:19Z","timestamp":1094032399000},"page":"647-651","source":"Crossref","is-referenced-by-count":83,"title":["<i>CYP1B1<\/i> mutations in French patients with early-onset primary open-angle 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