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Corneal dystrophy, Meesmann, 1(MECD1)

MedGen UID:
1684668
•Concept ID:
C5231499
•
Disease or Syndrome
Synonyms: CORNEAL DYSTROPHY, MEESMANN, 1; MECD1
 
Gene (location): KRT12 (17q21.2)
 
Monarch Initiative: MONDO:0020791
OMIM®: 122100

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Corneal dystrophy
MedGen UID:
3619
•Concept ID:
C0010036
•
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
See: Feature record | Search on this feature
Epiphora
MedGen UID:
57518
•Concept ID:
C0152227
•
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Punctate opacification of the cornea
MedGen UID:
867207
•Concept ID:
C4021565
•
Finding
Punctate opacification (reduced transparency) of the corneal stroma.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Microcysts: clinical significance and differential diagnosis.
Keay L, Jalbert I, Sweeney DF, Holden BA
Optometry 2001 Jul;72(7):452-60. PMID: 11486940

Recent clinical studies

Etiology

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
Jpn J Ophthalmol 2019 Jan;63(1):46-55. Epub 2018 Dec 7 doi: 10.1007/s10384-018-00643-6. PMID: 30535821
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
Am J Ophthalmol 2014 Jan;157(1):93-102.e1. Epub 2013 Oct 5 doi: 10.1016/j.ajo.2013.08.008. PMID: 24099278
Comprehensive analysis of keratin gene clusters in humans and rodents.
Hesse M, Zimek A, Weber K, Magin TM
Eur J Cell Biol 2004 Feb;83(1):19-26. doi: 10.1078/0171-9335-00354. PMID: 15085952
Inherited recurrent corneal erosion.
Bron AJ, Burgess SE
Trans Ophthalmol Soc U K (1962) 1981;101 (Pt 2):239-43. PMID: 6985236

Diagnosis

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
Jpn J Ophthalmol 2019 Jan;63(1):46-55. Epub 2018 Dec 7 doi: 10.1007/s10384-018-00643-6. PMID: 30535821
Photorefractive Keratectomy With Mitomycin C in Meesmann's Epithelial Corneal Dystrophy.
Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448
Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
Clausen I, Duncker GI, Grünauer-Kloevekorn C
Mol Vis 2010 May 29;16:954-60. PMID: 20577595Free PMC Article
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835
Microcysts: clinical significance and differential diagnosis.
Keay L, Jalbert I, Sweeney DF, Holden BA
Optometry 2001 Jul;72(7):452-60. PMID: 11486940

Therapy

Photorefractive Keratectomy With Mitomycin C in Meesmann's Epithelial Corneal Dystrophy.
Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448
Microcysts: clinical significance and differential diagnosis.
Keay L, Jalbert I, Sweeney DF, Holden BA
Optometry 2001 Jul;72(7):452-60. PMID: 11486940

Prognosis

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
Chen JL, Lin BR, Gee KM, Gee JA, Chung DW, Frausto RF, Deng SX, Aldave AJ
Mol Vis 2015;21:1378-86. Epub 2015 Dec 31 PMID: 26788030Free PMC Article
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
Eye (Lond) 2013 Mar;27(3):367-73. Epub 2012 Dec 7 doi: 10.1038/eye.2012.261. PMID: 23222558Free PMC Article
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH
Exp Eye Res 2000 Jan;70(1):41-9. doi: 10.1006/exer.1999.0769. PMID: 10644419
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH
Am J Ophthalmol 1999 Dec;128(6):687-91. doi: 10.1016/s0002-9394(99)00317-7. PMID: 10612503

Clinical prediction guides

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
Hum Mol Genet 2016 Mar 15;25(6):1176-91. Epub 2016 Jan 11 doi: 10.1093/hmg/ddw001. PMID: 26758872Free PMC Article
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
Am J Ophthalmol 2014 Jan;157(1):93-102.e1. Epub 2013 Oct 5 doi: 10.1016/j.ajo.2013.08.008. PMID: 24099278
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
Eye (Lond) 2013 Mar;27(3):367-73. Epub 2012 Dec 7 doi: 10.1038/eye.2012.261. PMID: 23222558Free PMC Article
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835
Microcysts: clinical significance and differential diagnosis.
Keay L, Jalbert I, Sweeney DF, Holden BA
Optometry 2001 Jul;72(7):452-60. PMID: 11486940

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