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Meesmann corneal dystrophy(MECD)

MedGen UID:
83283
Concept ID:
C0339277
Disease or Syndrome
Synonyms: Corneal dystrophy, juvenile epithelial of Meesmann; Juvenile epithelial corneal dystrophy; Juvenile hereditary epithelial dystrophy; Meesman dystrophy; Meesman's corneal dystrophy; Meesmann corneal epithelial dystrophy
SNOMED CT: Meesman's epithelial corneal dystrophy (1674008); Meesman's corneal dystrophy (1674008); Juvenile epithelial corneal dystrophy (1674008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: KRT12, KRT3
 
HPO: HP:0007755
Monarch Initiative: MONDO:0007379
OMIM®: 122100
OMIM® Phenotypic series: PS122100
Orphanet: ORPHA98954

Definition

Meesmann corneal dystrophy-1 (MECD1) is a dominantly inherited disorder characterized by the presence of multitudinous microcysts within the anterior epithelium on slit lamp examination. The disorder can cause foreign body sensation and photophobia but is often asymptomatic and detected in the course of routine eye examination. Microcysts are evident even in asymptomatic individuals. Rarely, a more severe phenotype with corneal erosions and scarring can lead to significant loss of visual acuity requiring treatment by keratoplasty or corneal grafting. A subtle feature is the presence of gray serpiginous lines within the anterior epithelium (summary by Liao et al., 2011). Genetic Heterogeneity of Meesmann Corneal Dystrophy MECD2 (618767) is caused by mutation in the KRT3 gene (148043) on chromosome 12q13. [from OMIM]

Additional description

From MedlinePlus Genetics
Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.

In people with Meesmann corneal dystrophy, cysts can appear as early as the first year of life. They usually affect both eyes and increase in number over time. The cysts usually do not cause any symptoms until late adolescence or adulthood, when they start to break open (rupture) on the surface of the cornea and cause irritation. The resulting symptoms typically include increased sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and an inability to tolerate wearing contact lenses. Some affected individuals also have temporary episodes of blurred vision.  https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy

Term Hierarchy

Conditions with this feature

Thiel-Behnke corneal dystrophy
MedGen UID:
287070
Concept ID:
C1562894
Disease or Syndrome
Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967).

Professional guidelines

PubMed

Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J
Mol Vis 2008 Sep 15;14:1713-8. PMID: 18806880Free PMC Article

Recent clinical studies

Etiology

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
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

Diagnosis

Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E
Cornea 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. PMID: 33346999Free PMC Article
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
Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448
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
Cremona FA, Ghosheh FR, Laibson PR, Rapuano CJ, Cohen EJ
Cornea 2008 Apr;27(3):374-7. doi: 10.1097/ICO.0b013e31815c18fa. PMID: 18362674

Therapy

Ghanem RC, Piccinini AL, Ghanem VC
J Refract Surg 2017 Jan 1;33(1):53-55. doi: 10.3928/1081597X-20161027-03. PMID: 28068448
Liao H, Irvine AD, Macewen CJ, Weed KH, Porter L, Corden LD, Gibson AB, Moore JE, Smith FJ, McLean WH, Moore CB
PLoS One 2011;6(12):e28582. Epub 2011 Dec 12 doi: 10.1371/journal.pone.0028582. PMID: 22174841Free PMC Article

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
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
Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J
Mol Vis 2008 Sep 15;14:1713-8. PMID: 18806880Free PMC Article
Chen YT, Tseng SH, Chao SC
Cornea 2005 Nov;24(8):928-32. doi: 10.1097/01.ico.0000159732.29930.26. PMID: 16227835

Clinical prediction guides

Abad-Morales V, Barbany M, Gris O, Güell JL, Pomares E
Cornea 2021 Mar 1;40(3):370-372. doi: 10.1097/ICO.0000000000002620. PMID: 33346999Free PMC Article
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
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
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
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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