Advanced search
Publication Cover
Ophthalmic Genetics Volume 43, 2022 - Issue 5
Submit an article Journal homepage
127
Views
0
CrossRef citations to date
0
Altmetric
Research Report

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant

Leire Irustetaa Department of Cornea, External Disease, and Refractive Surgery, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, MexicoView further author information
,
Arturo Ramírez-Mirandaa Department of Cornea, External Disease, and Refractive Surgery, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, MexicoView further author information
,
Alejandro Navas-Péreza Department of Cornea, External Disease, and Refractive Surgery, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, MexicoView further author information
,
Luis Montes-Almanzab Research Unit−Genetics Department, Institute of Ophthalmology, “Conde de Valenciana”, Mexico City, MexicoView further author information
,
José Arteagaa Department of Cornea, External Disease, and Refractive Surgery, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, MexicoView further author information
,
Froylán García-Martínezb Research Unit−Genetics Department, Institute of Ophthalmology, “Conde de Valenciana”, Mexico City, MexicoView further author information
,
Enrique Graue-Hernándeza Department of Cornea, External Disease, and Refractive Surgery, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, MexicoView further author information
&
Juan C. Zentenob Research Unit−Genetics Department, Institute of Ophthalmology, “Conde de Valenciana”, Mexico City, Mexico;c Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, MexicoCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-9716-8146View further author information
ORCID Icon show all
Pages 589-593 | Received 22 Mar 2022, Accepted 10 Apr 2022, Published online: 26 Apr 2022

References

  • Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, et al. IC3D classification of corneal dystrophies–edition 2. Cornea. 2015;34(2):117–59.doi:10.1097/ICO.0000000000000307.
  • Yu P, Gu Y, Jin F, Hu R, Chen L, Yan X, Yang Y, Qi M. Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. Genet Test. 2008;12(3):421–25.doi:10.1089/gte.2008.0005.
  • Altay Y, Burcu A, Aksoy G, Ozdemir ES, Ornek F. Changing indications and techniques for corneal transplantations at a tertiary referral center in Turkey, from 1995 to 2014. Clin Ophthalmol. 2016;1(10):1007–13.
  • Kheir V, Cortés-González V, Zenteno JC, Schorderet DF. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Hum Mutat. 2019;40(6):675–93.doi:10.1002/humu.23737.
  • Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, Beuerman RW, Mehta JS. Clinical and genetic aspects of the TGFBI-associated corneal dystrophies. Ocul Surf. 2014;12(4):234–51.doi:10.1016/j.jtos.2013.12.002.
  • Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis. 2010;16:1429–38.
  • Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. Mol Vis. 2007;13:1695–700.
  • Zenteno JC, Correa-Gomez V, Santacruz-Valdez C, Suarez-Sanchez R, Villanueva-Mendoza C. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: description of novel mutations and novel genotype-phenotype correlations. Exp Eye Res. 2009;89(2):172–77.doi:10.1016/j.exer.2009.03.004.
  • Shufelt C, Fraser-Bell S, Ying-Lai M, Torres M, Varma R. Los Angeles Latino Eye Study Group. Refractive error, ocular biometry, and lens opalescence in an adult population: the Los Angeles Latino Eye Study. Invest Ophthalmol Vis Sci. 2005;46(12):4450–60. doi:10.1167/iovs.05-0435.
  • Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS. A unique corneal dystrophy of Bowman’s layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology. 2005;112(6):1017–22.
  • Li D, Qi Y, Wang L, Lin H, Zhou N, Zhao L. An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI. Mol Vis. 2008;14:1298–302.
  • Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. Ophthalmology. 2009;116(1):46–51.doi:10.1016/j.ophtha.2008.08.050.
  • Xie AR, Cai SP, Yang Y, Fan YC, Yu WH, Guo LH, Yang QN, Zhu J, Liu XY. TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. Int J Ophthalmol. 2011;4(3):275–79.doi:10.3980/j.2222-3959.2011.03.13.
  • Abazi Z, Magarasevic L, Grubisa I, Risovic D. Individual phenotypic variances in a family with Avellino corneal dystrophy. BMC Ophthalmol. 2013;13:30.doi:10.1186/1471-2415-13-30.
  • Eifrig DEJ, Afshari NA, Buchanan HW 4th, Bowling BL, Klintworth GK. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. Ophthalmology. 2004;111(6):1108–14.
  • Dighiero P, Drunat S, Ellies P, D’Hermies F, Savoldelli M, Legeais JM, Renard G, Delpech M, Grateau G, Valleix S. A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol. 2000;129(2):248–51.
  • Cankaya C, Gunduz A, Cumurcu T, Demirel S, Savaci SS, Cavdar M. Familial association of keratoconus and granular corneal dystrophy: the familial case series. North Clin Istanb. 2018;6(2):176–83.doi:10.14744/nci.2018.08860.
  • Igarashi S, Makita Y, Hikichi T, Mori F, Hanada K, Yoshida A. Association of keratoconus and Avellino corneal dystrophy. Br J Ophthalmol. 2003;87(3):367–68.doi:10.1136/bjo.87.3.367.
  • Guan T, Liu C, Ma Z, Ding S. The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population. Gene. 2012;503(1):137–39.doi:10.1016/j.gene.2012.04.061.
  • Lin Q, Zheng L, Shen Z. A novel variant in TGFBI causes keratoconus in a two-generation Chinese family. Ophthalmic Genet. Dec 2021;13 Online ahead of print: 1–5.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.