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Corneal dystrophy, Meesmann, 2(MECD2)

MedGen UID:
1684798
•Concept ID:
C5231495
•
Disease or Syndrome
Synonyms: CORNEAL DYSTROPHY, MEESMANN, 2; MECD2
 
Gene (location): KRT3 (12q13.13)
 
Monarch Initiative: MONDO:0032904
OMIM®: 618767

Definition

Meesmann corneal dystrophy-2 (MECD2) is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity (summary by Szaflik et al., 2008). For a discussion of genetic heterogeneity of Meesmann corneal dystrophy, see MECD1 (122100). [from OMIM]

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
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
Recurrent corneal erosions
MedGen UID:
56353
•Concept ID:
C0155119
•
Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

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
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
J Int Med Res 2013 Apr;41(2):511-8. Epub 2013 Mar 12 doi: 10.1177/0300060513477306. PMID: 23569037
Treatment of corneal dystrophies with phototherapeutic keratectomy.
Orndahl MJ, Fagerholm PP
J Refract Surg 1998 Mar-Apr;14(2):129-35. doi: 10.3928/1081-597X-19980301-11. PMID: 9574743
Confocal microscopy of cystic disorders of the corneal epithelium.
Hernández-Quintela E, Mayer F, Dighiero P, Briat B, Savoldelli M, Legeais JM, Renard G
Ophthalmology 1998 Apr;105(4):631-6. doi: 10.1016/S0161-6420(98)94016-7. PMID: 9544636
Inherited recurrent corneal erosion.
Bron AJ, Burgess SE
Trans Ophthalmol Soc U K (1962) 1981;101 (Pt 2):239-43. PMID: 6985236

Diagnosis

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
Stage-related therapy of corneal dystrophies.
Seitz B, Lisch W
Dev Ophthalmol 2011;48:116-153. Epub 2011 Apr 26 doi: 10.1159/000324081. PMID: 21540634
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
Confocal microscopy of cystic disorders of the corneal epithelium.
Hernández-Quintela E, Mayer F, Dighiero P, Briat B, Savoldelli M, Legeais JM, Renard G
Ophthalmology 1998 Apr;105(4):631-6. doi: 10.1016/S0161-6420(98)94016-7. PMID: 9544636

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
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
J Int Med Res 2013 Apr;41(2):511-8. Epub 2013 Mar 12 doi: 10.1177/0300060513477306. PMID: 23569037
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
Treatment of corneal dystrophies with phototherapeutic keratectomy.
Orndahl MJ, Fagerholm PP
J Refract Surg 1998 Mar-Apr;14(2):129-35. doi: 10.3928/1081-597X-19980301-11. PMID: 9574743

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
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
J Int Med Res 2013 Apr;41(2):511-8. Epub 2013 Mar 12 doi: 10.1177/0300060513477306. PMID: 23569037
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
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
Am J Ophthalmol 2000 Oct;130(4):461-8. doi: 10.1016/s0002-9394(00)00494-3. PMID: 11024418

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