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Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.
Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K. Lisch W, et al. Am J Ophthalmol. 2000 Oct;130(4):461-8. doi: 10.1016/s0002-9394(00)00494-3. Am J Ophthalmol. 2000. PMID: 11024418
PURPOSE: There is an ongoing discussion whether Lisch corneal dystrophy (band-shaped and whorled microcystic dystrophy of the corneal epithelium) represents a disorder that is different from Meesmann corneal dystrophy. The purpose of this study was to evaluat …
PURPOSE: There is an ongoing discussion whether Lisch corneal dystrophy (band-shaped and whorled microcystic dystrophy of the corneal epithe …
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET, Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H, Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM, McLean WH, Moore CB. Allen EH, et al. Hum Mol Genet. 2016 Mar 15;25(6):1176-91. doi: 10.1093/hmg/ddw001. Epub 2016 Jan 11. Hum Mol Genet. 2016. PMID: 26758872 Free PMC article.
Although no overt changes in corneal opacity were detected by slit-lamp examination, the corneas of homozygous mutant mice exhibited histological and ultrastructural epithelial cell fragility phenotypes. An altered keratin expression profile was observed in the cornea of m …
Although no overt changes in corneal opacity were detected by slit-lamp examination, the corneas of homozygous mutant mice exhibited histolo …
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
Hassan H, Thaung C, Ebenezer ND, Larkin G, Hardcastle AJ, Tuft SJ. Hassan H, et al. Eye (Lond). 2013 Mar;27(3):367-73. doi: 10.1038/eye.2012.261. Epub 2012 Dec 7. Eye (Lond). 2013. PMID: 23222558 Free PMC article.
CONCLUSIONS: The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a significant structural change of the K12 protein. ...
CONCLUSIONS: The Leu132Pro missense mutation is within the helix-initiation motif of the keratin and is predicted to result in a sign …
In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.
Nishino T, Kobayashi A, Mori N, Masaki T, Yokogawa H, Fujiki K, Yanagawa A, Murakami A, Sugiyama K. Nishino T, et al. Jpn J Ophthalmol. 2019 Jan;63(1):46-55. doi: 10.1007/s10384-018-00643-6. Epub 2018 Dec 7. Jpn J Ophthalmol. 2019. PMID: 30535821
PURPOSE: To report genetic mutational analysis and in vivo histology of Meesmann corneal dystrophy. STUDY DESIGN: Prospective, case control study. ...This is the first study to confirm this genetic mutation in Japanese Meesmann corneal dystro …
PURPOSE: To report genetic mutational analysis and in vivo histology of Meesmann corneal dystrophy. STUDY DESIGN: Prosp …
KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
Ogasawara M, Matsumoto Y, Hayashi T, Ohno K, Yamada H, Kawakita T, Dogru M, Shimazaki J, Tsubota K, Tsuneoka H. Ogasawara M, et al. Am J Ophthalmol. 2014 Jan;157(1):93-102.e1. doi: 10.1016/j.ajo.2013.08.008. Epub 2013 Oct 5. Am J Ophthalmol. 2014. PMID: 24099278
PURPOSE: To identify genetic mutations and study the corneal epithelium in Japanese patients with Meesmann corneal dystrophy. DESIGN: Laboratory investigation and prospective observational case series. ...CONCLUSIONS: We identified a novel missense mut …
PURPOSE: To identify genetic mutations and study the corneal epithelium in Japanese patients with Meesmann corneal dystroph …
Photorefractive Keratectomy With Mitomycin C in Meesmann's Epithelial Corneal Dystrophy.
Ghanem RC, Piccinini AL, Ghanem VC. Ghanem RC, et al. J Refract Surg. 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. J Refract Surg. 2017. PMID: 28068448
Epithelial healing was uneventful and only tiny microcysts could be observed after 3 months. However, complete recurrence of the intraepithelial cysts were observed after 1 year with visual acuity dropping due to residual refractive error. ...
Epithelial healing was uneventful and only tiny microcysts could be observed after 3 months. However, complete recurrence of the intr …
Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies.
Cremona FA, Ghosheh FR, Laibson PR, Rapuano CJ, Cohen EJ. Cremona FA, et al. Cornea. 2008 Apr;27(3):374-7. doi: 10.1097/ICO.0b013e31815c18fa. Cornea. 2008. PMID: 18362674
PURPOSE: To report a rare case of bilateral and symmetric Meesmann corneal dystrophy concurrent with bilateral epithelial basement membrane dystrophy and bilateral but asymmetric posterior polymorphous corneal dystrophy in a patient of Armenian origin. ...CON …
PURPOSE: To report a rare case of bilateral and symmetric Meesmann corneal dystrophy concurrent with bilateral epitheli …
Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.
Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E. Abad-Morales V, et al. Cornea. 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. Cornea. 2021. PMID: 33346999 Free PMC article.
PURPOSE: This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) and pseudo-unilateral lattice corneal dystrophy (LCD). ...In both eyes, a corneal posterior crocodile shagreen degeneration could also be o …
PURPOSE: This study aims to clinically and genetically report a case of coexisting Meesmann corneal dystrophy (MECD) an …
Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
Cao W, Yan M, Hao Q, Wang S, Wu L, Liu Q, Li M, Biddle FG, Wu W. Cao W, et al. J Int Med Res. 2013 Apr;41(2):511-8. doi: 10.1177/0300060513477306. Epub 2013 Mar 12. J Int Med Res. 2013. PMID: 23569037 Free article.
To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single mutation in one of two exons of the keratin-12 gene (KRT12). Each mutation leads to a predicted amino acid change in the respective k …
To date, all reported cases of MECD have been associated with either a single mutation in one exon of the keratin-3 gene (KRT3) or a single …
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J. Szaflik JP, et al. Mol Vis. 2008 Sep 15;14:1713-8. Mol Vis. 2008. PMID: 18806880 Free PMC article.
RESULTS: In the proband, direct sequencing of the polymerase chain reaction (PCR) product from amplified coding regions of KRT3 and KRT12 revealed a novel 1493A>T heterozygous missense mutation in exon 7 of KRT3, which predicts the substitution of glutamic acid for vali …
RESULTS: In the proband, direct sequencing of the polymerase chain reaction (PCR) product from amplified coding regions of KRT3 and KRT12 re …
19 results