Genetics of primary congenital glaucoma
By: Muhammad Umer Khan, Wajeeha Tabassum, Musbihul Qayyum Zia, Raima Rehman, Atif Amin Baig, Sajjad Ahmed Khan, Rizwan Ahmed Kiani
Key Words: Primary congenital glaucoma, Mutations, CYP1B1.
Int. J. Biosci. 15(5), 495-505, November 2019.
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Primary Congenital Glaucoma (PCG) is a major risk factor for vision loss in children, which is manifested from birth to three years of age. In PCG the ocular developmental defects of the trabecular meshwork (TM) and front chamber position of eye lead to the blockage of aqueous loss and consequently an increased intraocular pressure (IOP). This results in photophobia, corneal clouding, optic nerve damage, and ultimately permanent loss of vision occurs. The incidence of PCG varies geographically. In Eastern culture, consanguineous marriages may play a role in a higher rate of PCG. Four loci of GLC3A, GLC3B, GLC3C, and 14q24.2-q24.3 to be linked to this ocular condition have been identified. Currently, mutations in two genes i.e.CYP1B1 at GLC3A locus, which encodes cytochrome P4501B1, and LTBP2 at GLC3D locus, which encodes LTBP2is known to cause PCG.CYP1B1 comprises of 3 exons encoding a 543 amino acid protein. CYPIBI is a gene that belongs to the cytochrome P450 family of enzymes. The cytochrome P450 proteins are monooxygenases that catalyse many reactions involved in the synthesis of cholesterol, steroids, other lipids, and drug metabolism. A lot of mutations have been reported in CYP1B1, which results in the form of PCG.
Genetics of primary congenital glaucoma
Genetics Home Reference. 2019. Place Publishe NIH, US. National Library of Medicine. Glaucoma.Place Publishe Jaya Eye Care Centre.
Abu-Amero KK, Edward DP. 2017. Primary congenital glaucoma.GeneReviews® [Internet]. University of Washington, Seattle.
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. 1996. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 5, 1199-1203.
Ali M, Mckibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M. 2009. Null mutations in LTBP2 cause primary congenital glaucoma. The American Journal of Human Genetics 84, 664-671.
Badeeb OM, Micheal S, Koenekoop RK, Den Hollander AI, Hedrawi MT. 2014. CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. BMC medical genetics 15, 109.
Campos-Mollo E, López-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martínez J, Ayuso C, Escribano J. 2009. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Molecular vision 15, 417.
Chan JYY, Choy BN, Ng AL, Shum JW. 2015. Review on the management of primary congenital glaucoma. Journal of current glaucoma practice 9, 92.
Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati MH, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MAZ. 2007. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. The Journal of Molecular Diagnostics 9, 382-393.
Cyrlin MN. 2014. Primary and secondary angle-closure glaucomas.Clinical Glaucoma Care.Springer 287-322.
Dimasi D, Hewitt A, Straga T, Pater J, Mackinnon J, Elder J, Casey T, Mackey D, Craig J. 2007. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clinical genetics 72, 255-260.
El Akil S, Melki R, Belmouden A. 2014. Genetic heterogeneity in Moroccan primary congenital glaucoma patients. Life Science of Journal 11, 890-898.
Faiq MA, Dada R, Qadri R, Dada T. 2015. CYP1B1-mediated pathobiology of primary congenital glaucoma. Journal of current glaucoma practice 9, 77.
Firasat S. 2008. Genetic Basis of Glaucoma in Pakistani Families University of the Punjab Lahore Pakistan.
Firasat S, Kaul H, Ashfaq UA, Idrees S. 2018. In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. International ophthalmology 38, 807-814.
Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S. 2008. Primary congenital glaucoma localizes to chromosome 14q24. 2-24.3 in two consanguineous Pakistani families. Molecular vision 14, 1659.
Firasat S, Riazuddin SA, Khan SN, Riazuddin S. 2008. Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Molecular vision 14, 2002.
Garway-Heath DF. 2008. Early diagnosis in glaucoma. Progress in brain research 173, 47-57.
Garway-Heath DF, Crabb DP, Bunce C, Lascaratos G, Amalfitano F, Anand N, Azuara-Blanco A, Bourne RR, Broadway DC, Cunliffe IA. 2015. Latanoprost for open-angle glaucoma (UKGTS): a randomised, multicentre, placebo-controlled trial. The Lancet 385, 1295-1304.
Girgis NM, Frantz KA. 2007. A case of primary congenital glaucoma: A diagnostic dilemma. Optometry-Journal of the American Optometric Association 78, 167-175.
Guercio JR, Martyn LJ. 2007. Congenital malformations of the eye and orbit. Otolaryngologic Clinics of North America 40, 113-140.
Hazin R, Hendrick AM, Kahook MY. 2009. Primary open-angle glaucoma: diagnostic approaches and management. Journal of the National Medical Association 101, 46-50.
Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA. 2006. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. Am J Ophthalmol 142, 993-1004. e1002.
Kaur K, Mandal AK, Chakrabarti S. 2011. Primary congenital glaucoma and the involvement of CYP1B1. Middle East African journal of ophthalmology 18, 7.
Kwon YH, Fingert JH, Kuehn MH, Alward WL. 2009. Primary open-angle glaucoma. New England Journal of Medicine 360, 1113-1124.
Kyari F, Entekume G, Rabiu M, Spry P, Wormald R, Nolan W, Murthy GV, Gilbert C. E. 2015. A Population-based survey of the prevalence and types of glaucoma in Nigeria: results from the Nigeria National Blindness and Visual Impairment Survey. BMC ophthalmology 15, 176.
Lewis CJ, Hedberg-Buenz A, Deluca AP, Stone EM, Alward WLM, Fingert JH. 2017. Primary congenital and developmental glaucomas. Human Molecular Genetics 26, R28-R36.
Li N, Zhou Y, Du L, Wei M, Chen X. 2011. Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. Experimental eye research 93, 572-579.
Mahar P, Memon AS, Bukhari S, Bhutto IA. 2012. Outcome of Mitomycin-C Augmented Trabeculectomy in Primary Congenital Glaucoma. Pakistan Journal of Ophthalmology 28.
Mandal AK, Chakrabarti D. 2011. Update on congenital glaucoma. Indian journal of ophthalmology 59, S148.
Mandal AK, Netland PA, Gothwal VK. 2006. The pediatric glaucomas.Elsevier Butterworth Heinemann.
Mcculley T. 2015. Role of Intracranial pressure in glaucoma. NANOS/AGS Collaborative Session Glaucoma: The Other Optic Neuropathy 513.
Medina‐Trillo C, Ferre‐Fernández JJ, Aroca‐Aguilar JD, Bonet‐Fernández JM, Escribano J. 2016. Functional characterization of eight rare missense CYP 1B1 variants involved in congenital glaucoma and their association with null genotypes. Acta ophthalmologica 94, e555-e560.
Minckler DS, Baerveldt G, Alfaro MR, Francis BA. 2005. Clinical results with the Trabectome for treatment of open-angle glaucoma. Ophthalmology 112, 962-967.
Monemi S, Spaeth G, Dasilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A. 2005. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22. 1. Hum Mol Genet 14, 725-733.
Mookherjee S, Acharya M, Banerjee D, Bhattacharjee A, Ray K. 2012. Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PloS one 7, e45077.
Olawoye O, Fawole OI, Teng CC, Ritch R. 2013. Evaluation of community eye outreach programs for early glaucoma detection in Nigeria. Clinical ophthalmology (Auckland, NZ) 7, 1753.
Ou Z, Liu G, Liu W, Deng Y, Zheng L, Zhang SG, Feng JBR. 2018. Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients 38, BSR20180056.
Pang IH, Clark AF. 2002. Advances in glaucoma therapeutics. Expert opinion on emerging drugs 7, 141-163.
Papadopoulos M, Cable N, Rahi J, Khaw PT. 2007. The British infantile and childhood glaucoma (BIG) eye study. Invest Ophthalmol Vis Sci 48, 4100-
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A. 2010. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Science 51, 249-254.
Quigley HA, Broman AT. 2006. The number of people with glaucoma worldwide in 2010 and 2020. British journal of ophthalmology 90, 262-267.
Rose R, Karthikeyan M, Anandan B, Jayaraman G. 2007. Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India. Molecular vision 13, 497.
Rudnicka AR, Mt-Isa S, Owen CG, Cook DG, Ashby D. 2006. Variations in primary open-angle glaucoma prevalence by age, gender, and race: a Bayesian meta-analysis. Investigative ophthalmology & visual science 47, 4254-4261.
Sarfarazi M, Akarsu NA, Hossain A, Turacli E. M, Aktan GS, Barsoum-Homsy M, Chevrette L, Sayli SB. 1995. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30, 171-177.
Schlamp CL, Li Y, Dietz JA,. Janssen KT, Nickells RW. 2006. Progressive ganglion cell loss and optic nerve degeneration in DBA/2J mice is variable and asymmetric. BMC neuroscience 7, 66.
Shastry BS. 2013. Genetic susceptibility to primary angle closure glaucoma (PACG). Discovery medicine 15, 17-22.
Sheikh SA. 2019. Genetic & Molecular Basis of Inherited Visual Disorders Liaquat University of Medical & Health Sciences, Jamshoro Sindh, Pakistan.
Stoilov I, Akarsu AN, Sarfarazi M. 1997. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2 p 21. Hum Mol Genet 6, 641-647.
Stoilov I, Sarfarazi M. 2002. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24. 3. Invest Ophthalmol Vis Sci 43, 3015-3015.
Suri F, Yazdani S, Elahi E. 2015. Glaucoma in Iran and contributions of studies in Iran to the understanding of the etiology of glaucoma. Journal of ophthalmic & vision research 10, 68.
Tamçelik N, Atalay E, Bolukbasi S, Çapar O, Ozkok A. 2014. Demographic features of subjects with congenital glaucoma. Indian journal of ophthalmology 62, 565.
Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R. 2009. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Molecular vision 15, 1200.
Verma IC, Paliwal P, Singh K. 2018. Genetic testing in pediatric ophthalmology. The Indian Journal of Pediatrics 85, 228-236.
Walton DS. 2010. Infantile, Childhood, and Juvenile Glaucomas.The Glaucoma Book. Springer 567-579.
Yihong H. 2014. Study progress in the relationship of CYP1B1 gene mutation with primary open angle glaucoma. Chinese Journal of Experimental Ophthalmology 32, 654-658.
Zanger UM, Schwab M. 2013. Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacology & therapeutics 138, 103-141.
Zhao Y, Wang S, Sorenson CM, Teixeira L, Dubielzig R, Peters DM, Conway SJ, Jefcoate CR, Sheibani N. 2013. Cyp1b1 mediates periostin regulation of trabecular meshwork development by suppression of oxidative stress. Molecular and cellular biology 33, 4225-4240.
Genetics of primary congenital glaucoma.
Int. J. Biosci. 15(5), 495-505, November 2019.
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