{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:14:48Z","timestamp":1791360888097,"version":"4.3.1"},"reference-count":92,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>The CYP1B1 gene encodes a cytochrome p450 monooxygenase enzyme, and over 150 variants have been associated with a spectrum of eye diseases, including primary congenital glaucoma, anterior segment dysgenesis, juvenile open-angle glaucoma, and primary open-angle glaucoma. Clinical genetics has yielded insights into the functions of the various CYP1B1 gene domains; however, animal studies are required to investigate the molecular role of CYP1B1 in the eye. While both zebrafish and mice express CYP1B1 in the developing eye, embryonic studies have shown disparate species-specific functions. In zebrafish, CYP1B1 regulates ocular fissure closure such that overexpression causes a remarkable phenotype consisting of the absence of the posterior eye wall. Adult CYP1B1 null zebrafish lack an ocular phenotype but show mild craniofacial abnormalities. In contrast, CYP1B1\u2212\/\u2212 mice display post-natal mild to severe trabecular meshwork degeneration due to increased oxidative stress damage. Interestingly, the retinal ganglion cells in CYP1B1 null mice may be more susceptible to damage secondary to increased intraocular pressure. Future studies, including detailed genotype\u2013phenotype information and animal work elucidating the regulation, substrates, and downstream effects of CYP1B1, will yield important insights for developing molecularly targeted therapies that will aim to prevent vision loss in CYP1B1-related eye diseases.<\/jats:p>","DOI":"10.3390\/life15030395","type":"journal-article","created":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T09:04:49Z","timestamp":1740992689000},"page":"395","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies"],"prefix":"10.3390","volume":"15","author":[{"given":"Elizabeth M.","family":"Bolton","sequence":"first","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1822-1728","authenticated-orcid":false,"given":"Andy","family":"Drackley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6585-1680","authenticated-orcid":false,"given":"Antionette L.","family":"Williams","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8961-6343","authenticated-orcid":false,"given":"Brenda L.","family":"Bohnsack","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,3]]},"reference":[{"key":"ref_1","first-page":"523","article-title":"Primary congenital glaucoma and Rieger\u2019s anomaly: Extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations","volume":"12","author":"Pasutto","year":"2006","journal-title":"Mol. 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