U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
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.

Recent clinical studies

Etiology

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
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
Orndahl MJ, Fagerholm PP
J Refract Surg 1998 Mar-Apr;14(2):129-35. doi: 10.3928/1081-597X-19980301-11. PMID: 9574743
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
Bron AJ, Burgess SE
Trans Ophthalmol Soc U K (1962) 1981;101 (Pt 2):239-43. PMID: 6985236

Diagnosis

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
Seitz B, Lisch W
Dev Ophthalmol 2011;48:116-153. Epub 2011 Apr 26 doi: 10.1159/000324081. PMID: 21540634
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835
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

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
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
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835
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

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
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
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
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
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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...