Updates on the molecular genetics of primary congenital glaucoma (Review)
- Authors:
- Chen Ling
- Dingding Zhang
- Jing Zhang
- Huanxin Sun
- Qiu Du
- Xuefei Li
-
Affiliations: Sichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, P.R. China, Department of Thoracic Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, P.R. China, Department of Immunology, North Sichuan Medical College, Nanchong, Sichuan 637100, P.R. China, College of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610072, P.R. China - Published online on: May 18, 2020 https://doi.org/10.3892/etm.2020.8767
- Pages: 968-977
-
Copyright: © Ling et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
This article is mentioned in:
Abstract
Cook C and Foster P: Epidemiology of glaucoma: What's new? Can J Ophthalmol. 47:223–226. 2012.PubMed/NCBI View Article : Google Scholar | |
Wang YX, Xu L, Yang H and Jonas JB: Prevalence of glaucoma in North China: The Beijing Eye Study. Am J Ophthalmol. 150:917–924. 2010.PubMed/NCBI View Article : Google Scholar | |
Gomes HA, Moreira BS, Sampaio RF, Furtado SRC, Cronemberger S, Gomes RA and Kirkwood RN: Gait parameters, functional mobility and fall risk in individuals with early to moderate primary open angle glaucoma: A cross-sectional study. Braz J Phys Ther. 22:376–382. 2018.PubMed/NCBI View Article : Google Scholar | |
Durnian JM, Cheeseman R, Kumar A, Raja V, Newman W and Chandna A: Childhood sight impairment: A 10-year picture. Eye (Lond). 24:112–117. 2010.PubMed/NCBI View Article : Google Scholar | |
Moschos MM, Nitoda E, Fenzel I, Song X, Langenbucher A, Kaesmann B, Seitz B and Gatzioufas Z: Prognostic factors of pediatric glaucoma: A retrospective study. Int Ophthalmol. 39:359–373. 2019.PubMed/NCBI View Article : Google Scholar | |
Sharafieh R AHC MS: Molecular genetics of primary congenital glaucoma. Genet Dis Eye Chapter. 17:295–307. 2011.PubMed/NCBI View Article : Google Scholar | |
Hoguet A, Grajewski A, Hodapp E and Chang TC: A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification. Indian J Ophthalmol. 64:118–123. 2016.PubMed/NCBI View Article : Google Scholar | |
Pedersen KB, Kappelgaard P, Kessel L, Sandfeld L, Zibrandtsen N and Bach-Holm D: Primary congenital glaucoma in Denmark, 1977-2016. Acta Ophthalmol. 98:182–189. 2020. View Article : Google Scholar | |
Gothwal VK, Bharani S and Mandal AK: Impact of surgery on the quality of life of caregivers of children with congenital glaucoma. Ophthalmology. 123:1161–1162. 2016.PubMed/NCBI View Article : Google Scholar | |
MacKinnon JR, Giubilato A, Elder JE, Craig JE and Mackey DA: Primary infantile glaucoma in an Australian population. Clin Exp Ophthalmol. 32:14–18. 2004.PubMed/NCBI View Article : Google Scholar | |
Gilbert C and Foster A: Childhood blindness in the context of VISION 2020-the right to sight. Bull World Health Organ. 79:227–232. 2001.PubMed/NCBI | |
Tamcelik N, Atalay E, Bolukbasi S, Capar O and Ozkok A: Demographic features of subjects with congenital glaucoma. Indian J Ophthalmol. 62:565–569. 2014.PubMed/NCBI View Article : Google Scholar | |
Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, Al-Tassan N, Ramzan K, Imtiaz F, Shaheen R and Alkuraya FS: Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med. 18:1244–1249. 2016.PubMed/NCBI View Article : Google Scholar | |
Ho CL and Walton DS: Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus. 41:271–288; quiz 300-271. 2004.PubMed/NCBI | |
Pilat AV, Shah S, Sheth V, Purohit R, Proudlock FA, Abbott J and Gottlob I: Detection and characterisation of optic nerve and retinal changes in primary congenital glaucoma using hand-held optical coherence tomography. BMJ Open Ophthalmol. 4(e000194)2019.PubMed/NCBI View Article : Google Scholar | |
Chang TC, Grajewski AL and Cavuoto KM: Evolving perspectives on congenital glaucoma. Curr Ophthalmol Rep. 3:85–90. 2015. View Article : Google Scholar | |
Amini H, Fakhraie G, Abolmaali S, Amini N and Daneshvar R: Central corneal thickness in Iranian congenital glaucoma patients. Middle East Afr J Ophthalmol. 19:194–198. 2012.PubMed/NCBI View Article : Google Scholar | |
Pilat AV, Proudlock FA, Shah S, Sheth V, Purohit R, Abbot J and Gottlob I: Assessment of the anterior segment of patients with primary congenital glaucoma using handheld optical coherence tomography. Eye (Lond). 33:1232–1239. 2019.PubMed/NCBI View Article : Google Scholar | |
Lopes JE, Wilson RR, Alvim HS, Shields CL, Shields JA, Calhoun J, Fontanarosa J and Steinmann WC: Central corneal thickness in pediatric glaucoma. J Pediatr Ophthalmol Strabismus. 44:112–117. 2007.PubMed/NCBI View Article : Google Scholar | |
Jin SW and Ryu WY: Clinical manifestations of strabismus in patients with primary congenital glaucoma. Semin Ophthalmol. 34:451–457. 2019.PubMed/NCBI View Article : Google Scholar | |
Arthur E, Elsner AE, Sapoznik KA, Papay JA, Muller MS and Burns SA: Distances from capillaries to arterioles or venules measured using OCTA and AOSLO. Invest Ophthalmol Vis Sci. 60:1833–1844. 2019.PubMed/NCBI View Article : Google Scholar | |
Patil B, Tandon R, Sharma N, Verma M, Upadhyay AD, Gupta V and Sihota R: Corneal changes in childhood glaucoma. Ophthalmology. 122:87–92. 2015.PubMed/NCBI View Article : Google Scholar | |
Shohdy KS, Rashad WA, Fargoun MK and Urban P: The morphogen behind primary congenital glaucoma and the dream of targeting. Rom J Morphol Embryol. 58:351–361. 2017.PubMed/NCBI | |
Sigle KJ, Camano-Garcia G, Carriquiry AL, Betts DM, Kuehn MH and McLellan GJ: The effect of dorzolamide 2% on circadian intraocular pressure in cats with primary congenital glaucoma. Vet Ophthalmol. 14 (Suppl 1)(S48-S53)2011.PubMed/NCBI View Article : Google Scholar | |
Angeli A, Abdel-Aziz AA, Nocentini A, El-Azab AS, Gratteri P and Supuran CT: Synthesis and carbonic anhydrase inhibition of polycyclic imides incorporating N-benzenesulfonamide moieties. Bioorg Med Chem. 25:5373–5379. 2017.PubMed/NCBI View Article : Google Scholar | |
Costa CM, Louvisse de Abreu LC, dos Santos EP, Franca Presgrave OA, Rocha Pierucci AP, Rodrigues CR, de Sousa VP, Nicoli S, Ricci Junior E and Cabral LM: Preparation and evaluation of chitosan submicroparticles containing pilocarpine for glaucoma therapy. Curr Drug Deliv. 12:491–503. 2015.PubMed/NCBI View Article : Google Scholar | |
Morales J, Al Shahwan S, Al Odhayb S, Al Jadaan I and Edward DP: Current surgical options for the management of pediatric glaucoma. J Ophthalmol. 2013(763735)2013.PubMed/NCBI View Article : Google Scholar | |
Al-Saikhan FI: The gene therapy revolution in ophthalmology. Saudi J Ophthalmol. 27:107–111. 2013.PubMed/NCBI View Article : Google Scholar | |
Perkins TW, Faha B, Ni M, Kiland JA, Poulsen GL, Antelman D, Atencio I, Shinoda J, Sinha D, Brumback L, et al: Adenovirus-mediated gene therapy using human p21WAF-1/Cip-1to prevent wound healing in a rabbit model of glaucoma filtration surgery. Arch Ophthalmol. 120:941–949. 2002.PubMed/NCBI View Article : Google Scholar | |
Wen SF, Chen Z, Nery J and Faha B: Characterization of adenovirus p21 gene transfer, biodistribution, and immune response after local ocular delivery in New Zealand white rabbits. Exp Eye Res. 77:0–365. 2003.PubMed/NCBI View Article : Google Scholar | |
Heatley G, Kiland J, Faha B, Seeman J, Schlamp CL, Dawson DG, Gleiser J, Maneval D, Kaufman PL and Nickells RW: Gene therapy using p21WAF-1/Cip-1 to modulate wound healing after glaucoma trabeculectomy surgery in a primate model of ocular hypertension. Gene Ther. 11:949–955. 2004.PubMed/NCBI View Article : Google Scholar | |
Khan AO: Genetics of primary glaucoma. Curr Opin Ophthalmol. 22:347–355. 2011.PubMed/NCBI View Article : Google Scholar | |
Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM and Nichols BE: Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet. 4:47–50. 1993.PubMed/NCBI View Article : Google Scholar | |
Talluri R and Shete S: A linkage disequilibrium-based approach to selecting disease-associated rare variants. PLoS One. 8(e69226)2013.PubMed/NCBI View Article : Google Scholar | |
Sarfarazi M, Akarsu NA, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L and Sayli BS: Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 30:171–177. 1995.PubMed/NCBI View Article : Google Scholar | |
Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS and Sarfarazi M: A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 5:1199–1203. 1996.PubMed/NCBI View Article : Google Scholar | |
Stoilov IR and Sarfarazi M: The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. Invest Ophth Vis Sci. 43:847. 2002.PubMed/NCBI | |
Tian Q, Li FH, Zhao KX, Wang L, Shan XY, Pang YY, Li YX, Wu MJ, Qiu F and Li HY: A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 24:629–634. 2007.(In Chinese). PubMed/NCBI | |
Chen R, Gong B, Li Q, Zeng G, Hao F, Li N, Shi Y and Zhang D: Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 31:129–133. 2014.(In Chinese). PubMed/NCBI View Article : Google Scholar | |
Sheikh SA, Waryah AM, Narsani AK, Shaikh H, Gilal IA, Shah K, Qasim M, Memon AI, Kewalramani P and Shaikh N: Mutational spectrum of the CyP1B1 gene in Pakistani patients with primary congenital glaucoma: Novei variants and genotype-phenotype correlations. Mol Vis. 20:991–1001. 2014.PubMed/NCBI | |
Micheal S, Ayub H, Zafar SN, Bakker B, Ali M, Akhtar F, Islam F, Khan MI, Qamar R and den Hollander AI: Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. Clin Exp Ophthalmol. 43:31–39. 2015.PubMed/NCBI View Article : Google Scholar | |
Koparir A, Karatas OF, Yuceturk B, Yuksel B, Bayrak AO, Gerdan OF, Sagiroglu MS, Gezdirici A, Kirimtay K, Selcuk E, et al: Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. Hum Mol Genet. 24:5378–5387. 2015.PubMed/NCBI View Article : Google Scholar | |
Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nading EB, et al: CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 155:508–517. 2013.PubMed/NCBI View Article : Google Scholar | |
Zhang C, Cerveira E, Romanovitch M and Zhu Q: Array-based comparative genomic hybridization (aCGH). Methods Mol Biol. 1541:167–179. 2017.PubMed/NCBI View Article : Google Scholar | |
Lee JH, Ki CS, Kim HJ, Suh W, Lee ST, Kim JW and Kee C: Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. Mol Vis. 17:3583–3590. 2011.PubMed/NCBI | |
Abu-Amero KK, Osman EA, Mousa A, Wheeler J, Whigham B, Allingham RR, Hauser MA and Al-Obeidan SA: Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: Genotype-phenotype correlation. Mol Vis. 17:2911–2919. 2011.PubMed/NCBI | |
Broughton WL, Rosenbaum KN and Beauchamp GR: Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11. Arch Ophthalmol. 101:594–597. 1983.PubMed/NCBI View Article : Google Scholar | |
Nakane T, Kousuke N, Sonoko H, Yuko K, Sato H, Kubota T and Sugita K: 6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment. Pediatr Int. 55:376–381. 2013.PubMed/NCBI View Article : Google Scholar | |
Merritt JL and Lindor NM: Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly. American J Med Genet. Part A 146A:1055–1058. 2008.PubMed/NCBI View Article : Google Scholar | |
Suri F, Yazdani S, Narooie-Nejhad M, Zargar SJ, Paylakhi SH, Zeinali S, Pakravan M and Elahi E: Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. Ophthalmology. 116:2101–2109. 2009.PubMed/NCBI View Article : Google Scholar | |
Abu-Amero KK, Kondkar AA and Khan AO: Molecular karyotyping of a dysmorphic girl from Saudi Arabia with CYP1B1-negative primary congenital glaucoma. Ophthalmic Genet. 37:98–101. 2016.PubMed/NCBI View Article : Google Scholar | |
Rasmussen DH and Ellis PP: Congenital glaucoma in identical twins. Arch Ophthalmol. 84:827–830. 1970.PubMed/NCBI View Article : Google Scholar | |
Fried K, Sachs R and Krakowsky D: Congenital glaucoma in only one of identical twins. Ophthalmologica. 174:185–187. 1977.PubMed/NCBI View Article : Google Scholar | |
Walton DS, Nagao K, Yeung HH and Kane SA: Late-recognized primary congenital glaucoma. J Pediatr Ophthalmol Strabismus. 50:234–238. 2013.PubMed/NCBI View Article : Google Scholar | |
Faiq MA, Dada R, Qadri R and Dada T: CYP1B1-mediated pathobiology of primary congenital glaucoma. J Curr Glaucoma Pract. 9:77–80. 2015.PubMed/NCBI View Article : Google Scholar | |
Souzeau E, Dubowsky A, Ruddle JB and Craig JE: Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. Mol Genet Genomic Med. 7(774)2019.PubMed/NCBI View Article : Google Scholar | |
Manali D, Craig M, Bejjani BA and Edward DP: Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes. Exp Eye Res. 82:24–32. 2006.PubMed/NCBI View Article : Google Scholar | |
Song N, Leng L, Yang XJ, Zhang YQ, Tang C, Chen WS, Zhu W and Yang X: Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype. Int J Ophthalmol. 12:909–914. 2019.PubMed/NCBI View Article : Google Scholar | |
Campos-Mollo E, López-Garrido MP, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martínez J, Ayuso C and Escribano J: CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability. Mol Vis. 15:417–431. 2009.PubMed/NCBI | |
Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A and Rautenstrauss B: Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 29:1147–1153. 2008.PubMed/NCBI View Article : Google Scholar | |
Tran HT, Tran HT, Luong LH, Nguyen TS, Nguyen HQ, Vu TT, Ta TD, Dao TMA, Bui TH, Ta TV and Tran VK: Primary congenital glaucoma in Vietnam: Analysis and identification of novel CYP1B1 variants. Ophthalmic Genet. 40:286–287. 2019.PubMed/NCBI View Article : Google Scholar | |
Khafagy MM, El-Guendy N, Tantawy MA, Eldaly MA, Elhilali HM and Wahab AHAA: Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma. Int J Ophthalmol. 12:607–614. 2019.PubMed/NCBI View Article : Google Scholar | |
Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B and Berraho A: Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1. Mol Vis. 16:1215–1226. 2010.PubMed/NCBI | |
Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, Elder JE, Casey T, Mackey DA and Craig JE: Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet. 72:255–260. 2007.PubMed/NCBI View Article : Google Scholar | |
Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ and John SW: Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science. 299:1578–1581. 2003.PubMed/NCBI View Article : Google Scholar | |
Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM and Fingert JH: Primary congenital and developmental glaucomas. Hum Mol Genet. 26:28–36. 2017.PubMed/NCBI View Article : Google Scholar | |
Zhao Y, Wang S, Sorenson CM, Teixeira L, Dubielzig RR, Peters DM, Conway SJ, Jefcoate CR and Sheibani N: Cyp1b1 mediates periostin regulation of trabecular meshwork development by suppression of oxidative stress. Mol Cell Biol. 33:4225–4240. 2013.PubMed/NCBI View Article : Google Scholar | |
Mookherjee S, Acharya M, Banerjee D, Bhattacharjee A and Ray K: Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PLoS One. 7(45077)2012.PubMed/NCBI View Article : Google Scholar | |
López-Garrido MP, Medina-Trillo C, Morales-Fernandez L, Garcia-Feijoo J, Martínez-de-la-Casa JM, García-Antón M and Escribano J: Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. Ophthalmology. 120:716–723. 2013.PubMed/NCBI View Article : Google Scholar | |
Alsaif HS, Khan AO, Patel N, Alkuraya H, Hashem M, Abdulwahab F, Ibrahim N, Aldahmesh MA and Alkuraya FS: Congenital glaucoma and CYP1B1: An old story revisited. Hum Genet. 138:1043–1049. 2019.PubMed/NCBI View Article : Google Scholar | |
Li N, Zhou Y, Du L, Wei M and Chen X: Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. Exp Eye Res. 93:572–579. 2011.PubMed/NCBI View Article : Google Scholar | |
Ou Z, Liu G, Liu W, Deng Y, Zheng L, Zhang S and Feng G: Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients. Biosci Rep. 38(BSR20180056)2018.PubMed/NCBI View Article : Google Scholar | |
Coêlho REA, Sena DR, Santa Cruz F, Moura BCFS, Han CC, Andrade FN and Lira RPC: CYP1B1 gene and phenotypic correlation in patients from Northeastern Brazil with primary congenital glaucoma. J Glaucoma. 28:161–164. 2019.PubMed/NCBI View Article : Google Scholar | |
Rashid M, Yousaf S, Sheikh SA, Sajid Z, Shabbir AS, Kausar T, Tariq N, Usman M, Shaikh RS, Ali M, et al: Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan. Mol Vis. 25:144–154. 2019.PubMed/NCBI | |
Waryah YM, Iqbal M, Sheikh SA, Baig MA, Narsani AK, Atif M, Bhinder MA, Ur Rahman A, Memon AI, Pirzado MS and Waryah AM: Two novel variants in CYP1B1 gene: A major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients. Int J Ophthalmol. 12:8–15. 2019.PubMed/NCBI View Article : Google Scholar | |
Talebi F, Mardasi FG, Asl JM and Lashgari A: Mutational spectrum of the CYP1B1 gene in Iranain primary congenital glaucoma family. Can J Ophthalmol. 53:87–89. 2018.PubMed/NCBI View Article : Google Scholar | |
Sarfarazi M and Stoilov I: Molecular genetics of primary congenital glaucoma. Eye (Lond). 14:422–428. 2000.PubMed/NCBI View Article : Google Scholar | |
Wang SL, Piao SY, Xu MY, Zhang W, Ma JQ, Hao J, Chi H, Xue ZQ, Ha SP and Zhuang WJ: Evaluating correlation between the ocular biometry and genetic variants of MYOC and ABCA1 with primary angleclosure glaucoma in a cohort from northern China. Int J Ophthalmol. 12:1317–1322. 2019.PubMed/NCBI View Article : Google Scholar | |
Nazir S, Mukhtar M, Shahnawaz M, Farooqi S, Fatima N, Mehmood R and Sheikh N: A novel single nucleotide polymorphism in exon 3 of MYOC enhances the risk of glaucoma. PLoS One. 13(e0195157)2018.PubMed/NCBI View Article : Google Scholar | |
Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M and Gamundi MJ: Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. Mol Vis. 19:1707–1722. 2013.PubMed/NCBI | |
Lei L, Shushan L, Liu XY and Zhang C: Novel MYOC gene mutation in a Chinese family with primary open-angle glaucoma. Br J Ophthalmol. 1–6. 2019. | |
Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, Thomas R, Balasubramanian D and Chakrabarti S: Myocilin gene implicated in primary congenital glaucoma. Clin Genet. 67:335–340. 2005.PubMed/NCBI View Article : Google Scholar | |
Chakrabarti S, Kaur K, Rao KN, Mandal AK, Kaur I, Parikh RS and Thomas R: The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Invest Ophthalmol Vis Sci. 50:75–83. 2009.PubMed/NCBI View Article : Google Scholar | |
Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS, Kim YY, Kim CS, Park CK, Ki CS and Kee C: Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Mol Vis. 17:2093–2101. 2011.PubMed/NCBI | |
Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B and Sun X: CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol. 126:1443–1447. 2008.PubMed/NCBI View Article : Google Scholar | |
Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, Rait JL, Narita A, Mauri L, et al: Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma. JAMA Ophthalmol. 137:348–355. 2019.PubMed/NCBI View Article : Google Scholar | |
Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL and John SW: Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet. 9:1021–1032. 2000.PubMed/NCBI View Article : Google Scholar | |
Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi KR, Mukhopadhyay A, Mandal AK, Hasnain SE, Chandrasekhar G, Thomas R and Ray K: Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis. 11:111–113. 2005.PubMed/NCBI | |
Medina-Trillo C, Aroca-Aguilar JD, Méndez-Hernández CD, Morales L, García-Antón M, García-Feijoo J and Escribano J: Rare FOXC1 variants in congenital glaucoma: Identification of translation regulatory sequences. Eur J Hum Genet. 24:672–680. 2016.PubMed/NCBI View Article : Google Scholar | |
Rosbach J, Vossmerbaeumer U, Renieri G, Pfeiffer N and Thieme H: Osteogenesis imperfecta and glaucoma. A case report. Ophthalmologe. 109:479–82. 2012.(In German). PubMed/NCBI View Article : Google Scholar | |
Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, et al: Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis. 11(108)2016.PubMed/NCBI View Article : Google Scholar | |
Vithana EN, Aung T, Khor CC, Cornes BK, Tay WT, Sim X, Lavanya R, Wu R, Zheng Y, Hibberd ML, et al: Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 20:649–658. 2011.PubMed/NCBI View Article : Google Scholar | |
Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY Savarirayan R, et al: Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet. 127:33–44. 2010.PubMed/NCBI View Article : Google Scholar | |
Liang X, Zhang L, Ji Q, Wang B, Wei D and Cheng D: miR-421 promotes apoptosis and suppresses metastasis of osteosarcoma cells via targeting LTBP2. J Cell Biochem. 120:10978–10987. 2019.PubMed/NCBI View Article : Google Scholar | |
Suri F, Yazdani S and Elahi E: LTBP2 knockdown and oxidative stress affect glaucoma features including TGFβ pathways, ECM genes expression and apoptosis in trabecular meshwork cells. Gene. 673:70–81. 2018.PubMed/NCBI View Article : Google Scholar | |
Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, et al: Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet. 18:3969–3977. 2009.PubMed/NCBI View Article : Google Scholar | |
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, et al: Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet. 84:664–671. 2009.PubMed/NCBI View Article : Google Scholar | |
Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M and Baban A: LTBP2-related ‘Marfan-like’ phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. Am J Med Genet A. 179:104–112. 2019.PubMed/NCBI View Article : Google Scholar | |
Challa P, Hauser MA, Luna CC, Freedman SF, Pericak-Vance M, Yang J, McDonald MT and Allingham RR: Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Mol Vis. 12:1009–1115. 2006.PubMed/NCBI | |
Yang Y, Zhang L, Li S, Zhu X and Sundaresan P: Candidate gene analysis identifies mutations in CYP1B1 and LTBP2 in Indian families with primary congenital glaucoma. Genet Test Mol Biomarkers. 21:252–258. 2017.PubMed/NCBI View Article : Google Scholar | |
Micheal S, Siddiqui SN, Zafar SN, Iqbal A, Khan MI and Hollander AID: Identification of novel variants inLTBP2andPXDNUsing whole-exome sequencing in developmental and congenital glaucoma. PLoS One. 11(e0159259)2016.PubMed/NCBI View Article : Google Scholar | |
Kuehn MH, Lipsett KA, Menotti-Raymond M, Whitmore SS, Scheetz TE, David VA, O'Brien SJ, Zhao Z, Jens JK, Snella EM, et al: Correction: A mutation in LTBP2 causes congenital glaucoma in domestic cats (Felis catus). PLoS One. 11(e0161517)2016.PubMed/NCBI View Article : Google Scholar | |
Inoue T, Ohbayashi T, Fujikawa Y, Yoshida H, Akama TO, Noda K, Horiguchi M, Kameyama K, Hata Y, Takahashi K, et al: Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils. Hum Mol Genet. 23:5672–5682. 2014.PubMed/NCBI View Article : Google Scholar | |
Ma AS, Grigg JR and Jamieson RV: Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Hum Genet. 138:899–915. 2019.PubMed/NCBI View Article : Google Scholar | |
Coleman AL and Miglior S: Risk factors for glaucoma onset and progression. Sur Ophthalmol. 53 (Suppl 1)(S3-S10)2008.PubMed/NCBI View Article : Google Scholar | |
Krishnakumar K, Margaret R, Marchant JK, Stephen H and John SW: Schlemm's canal is a unique vessel with a combination of blood vascular and lymphatic phenotypes that forms by a novel developmental process. PLoS Biol. 12(e1001912)2014.PubMed/NCBI View Article : Google Scholar | |
Aspelund A, Tammela T, Antila S, Nurmi H, Leppänen VM, Zarkada G, Stanczuk L, Francois M, Mäkinen T, Saharinen P, et al: The Schlemm's canal is a VEGF-C/VEGFR-3-responsive lymphatic-like vessel. J Clin Invest. 124:3975–3986. 2014.PubMed/NCBI View Article : Google Scholar | |
Saharinen P, Eklund L and Alitalo K: Therapeutic targeting of the angiopoietin-TIE pathway. Nat Rev Drug Dis. 16:635–661. 2017.PubMed/NCBI View Article : Google Scholar | |
Partanen J, Armstrong E, Mäkelä TP, Korhonen J, Sandberg M, Renkonen R, Knuutila S, Huebner K and Alitalo K: A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains. Mol Cell Biol. 12:1698–1707. 1992.PubMed/NCBI View Article : Google Scholar | |
Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM and Vikkula M: Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet. 41:118–124. 2009.PubMed/NCBI View Article : Google Scholar | |
Suri C, Jones PF, Patan S, Bartunkova S, Maisonpierre PC, Davis S, Sato TN and Yancopoulos GD: Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis. Cell. 87:1171–1180. 1996.PubMed/NCBI View Article : Google Scholar | |
Barton WA, Dalton AC, Seegar TCM, Himanen JP and Nikolov DB: Tie2 and Eph receptor tyrosine kinase activation and signaling. Cold Spring Harb Perspect Biol. 6(a009142)2014.PubMed/NCBI View Article : Google Scholar | |
Kesler CT, Pereira ER, Cui CH, Nelson GM, Masuck DJ, Baish JW and Padera TP: Angiopoietin-4 increases permeability of blood vessels and promotes lymphatic dilation. FASEB J. 29:3668–3677. 2015.PubMed/NCBI View Article : Google Scholar | |
Elamaa H, Kihlström M, Kapiainen E, Kaakinen M, Miinalainen I, Ragauskas S, Cerrada-Gimenez M, Mering S, Nätynki M and Eklund L: Angiopoietin-4-dependent venous maturation and fluid drainage in the peripheral retina. Elife. 7(e37776)2018.PubMed/NCBI View Article : Google Scholar | |
Thomson BR, Heinen S, Jeansson M, Ghosh AK, Fatima A, Sung HK, Onay T, Chen H, Yamaguchi S, Economides AN, et al: A lymphatic defect causes ocular hypertension and glaucoma in mice. J Clin Invest. 124:4320–4324. 2014.PubMed/NCBI View Article : Google Scholar | |
Thomson BR, Souma T, Tompson SW, Onay T, Kizhatil K, Siggs OM, Feng L, Whisenhunt KN, Yanovitch TL, Kalaydjieva L, et al: Angiopoietin-1 is required for Schlemm's canal development in mice and humans. J Clin Invest. 127:4421–4436. 2017.PubMed/NCBI View Article : Google Scholar | |
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, et al: Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 126:2575–2587. 2016.PubMed/NCBI View Article : Google Scholar |