Meesmann Corneal Dystrophy

Description

Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.

Clinical Features

Top most frequent phenotypes and symptoms related to Meesmann Corneal Dystrophy

  • Pain
  • Reduced visual acuity
  • Photophobia
  • Scarring
  • Corneal opacity
  • Astigmatism
  • Cutaneous photosensitivity
  • Corneal dystrophy
  • Epiphora
  • Blurred vision

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Meesmann Corneal Dystrophy Is also known as mecd, juvenile hereditary epithelial dystrophy of meesmann, meesmann corneal dystrophy, corneal dystrophy, meesmann epithelial, corneal dystrophy, juvenile epithelial, of meesmann.

Researches and researchers

Doctors, researchs, and experts related to Meesmann Corneal Dystrophy extracted from public data.

Meesmann Corneal Dystrophy Experts map



Current Researchs and researchers

  • HALLE (SAALE) — Dr Claudia GRÜNAUER-KLOEVEKORN

    Investigator of research project

    • Institution/s:
      — Universitätsklinikum Halle (Saale)
    • Research area/topic::

      Molecular diagnosis, genotype-phenotype correlation and therapy optimization of hereditary corneal dystrophies


  • DUNDEE — Pr William H MCLEAN

    Investigator of research project

    • Institution/s:
      — University of Dundee
    • Research area/topic::

      MICA: Delivering gene silencing therapy to the epidermis and ocular surface



Mendelian

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Meesmann Corneal Dystrophy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
KRT3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

KRT3
Specificity
100 %
Genes
50 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
50 %
Corneal Dystrophy.

By Asper Biogene Asper Biogene LLC (Estonia).

SOD1, TACSTD2, TCF4, ZEB1, TGFBI, VSX1, SLC4A11, COL17A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, UBIAD1, GSN, KRT12, KRT3, CHST6, PRDM5
Specificity
10 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC (Estonia).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...)

View the complete list with 259 more genes
Specificity
1 %
Genes
100 %
Meesmann corneal dystrophy: KRT3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

KRT3
Specificity
100 %
Genes
50 %
KRT3.

By Fulgent Genetics Fulgent Genetics (United States).

KRT3
Specificity
100 %
Genes
50 %

We have 10 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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