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Review paper
CYP1B1 mutations in primary glaucoma: review and analysis of genetic studies in various populations
Rafał P. Prost
1
KLINIKA OCZNA 2025, 127
Online publish date: 2025/09/05
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- KO-00565_EN.pdf
[0.38 MB]
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1. Weinreb RN, Khaw PT. Primary open-angle glaucoma. Lancet 2004; 363: 1711-1720. 2.
Jain N, Verma A, Jain N. Niosomes Encapsulated Pilocarpine Hydrochloride for Ocular Controlled Delivery. Int J Pharm Biol Sci 2019, 9: 813-823. 3.
Stuart KV, de Vries VA, Schuster AK, et al.; European Eye Epidemiology Consortium. Prevalence of Glaucoma in Europe and Projections to 2050: Findings from the European Eye Epidemiology Consortium. Ophthalmology 2025; 2025: S0161-6420(25)00344-6. 4.
Vision Loss Expert Group of the Global Burden of Disease Study; GBD 2019 Blindness and Vision Impairment Collaborators. Global estimates on the number of people blind or visually impaired by glaucoma: A meta-analysis from 2000 to 2020. Eye (Lond) 2024; 38: 2036-2046. 5.
Elangovan P, Nat MK, Mishra M. Statistical Parameters for Glaucoma Detection from Color Fundus Images. Procedia Comp Sci 2020; 171: 2675-2683. 6.
European Glaucoma Society: Terminology and guidelines for glaucoma. PubliComm, 2020. 7.
Seth PK, Senthil S, Das AV, Garudadri C. Prevalence of Glaucoma Types, Clinical Profile and Disease Severity at Presentation: Tertiary Institute Based Cross-Sectional Study from South India. Ind J Ophthalmol 2023; 71: 3305-3312. 8.
Bolton BM, Drackley A, Williams AI, et al. Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies Life (Basel) 2025; 5: 395. 9.
Kondkar AA. Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma. Appl Clin Genet 2021; 14: 89-112. 10.
Alsubait A, Aldossary W, Rashid M, et al. CYP1B1 gene: Implications in glaucoma and cancer. J Cancer 2020; 11: 4652-4661. 11.
Kaur K, Manmdal AK, Chakrabarti S. Primary Congenital Glaucoma and the Involvement of CYP1B1. Middle East Afr J Ophthalmol 2011; 18: 7-16. 12.
Rojas B, Ramírez AI, de-Hoz R, et al. Structural changes of the anterior chamber angle in primary congenital glaucoma with respect to normal development. Arch Soc Esp Oftalmol 2006; 81: 65-71. 13.
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12: 748-755. 14.
Vincent A, Billingsley G, Priston M, et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters’ anomaly. J Med Genet 2001; 38: 324-326. 15.
Stoilov I, Akarsu AN, Alozie I, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 1998; 62: 573-584. 16.
Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12: 399-404. 17.
Melki R, Colomb E, Lefort N, Brézin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004; 41: 647-651. 18.
Bejjani BA, Stockton DW, Lewis RA, et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9: 367-374. 19.
Reddy AB, Kaur K, Mandal AK, et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis 2004; 10: 696-702. 20.
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12: 748-755. 21.
Belmouden A, Melki R, Hamdani M, et al. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 2002; 62: 334-339. 22.
Thanikachalam S, Hodapp E, Chang TC, et al. Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida. Genes (Basel) 2020; 11: 350. 23.
Panicker SG, Reddy AB, Mandal AK, et al. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci 2002; 43: 1358-1366. 24.
Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2001; 42: 2211-2216. Erratum in: Invest Ophthalmol Vis Sci 2001; 42: 2775. 25.
Sitorus R, Ardjo SM, Lorenz B, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet 2003; 40: e9. 26.
Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22: 496. 27.
Campos-Mollo E, López-Garrido MP, Blanco-Marchite C, et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 2009; 15: 417-431. 28.
López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Clin Genet 2009; 76: 552-557. 29.
Oliva-Biénzobas V, Navas A, Astiazarán M, et al. CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel. Cornea 2017; 36: 1256-1259. 30.
Ohtake Y, Kubota R, Tanino T, et al. Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma. Ophthalmic Genet 2000; 21: 191-193. 31.
Bejjani BA, Lewis RA, Tomey KF, et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998; 62: 325-333. 32.
Alfadhli S, Behbehani A, Elshafey A, et al. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. Am J Ophthalmol 2006; 141: 512-516. 33.
Curry SM, Daou AG, Hermanns P, et al. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet 2004; 25: 3-9. 34.
Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, et al. Primary congenital glaucoma and Rieger’s anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis 2006; 12: 523-531.
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