Corneal Dystrophy, Fuchs Endothelial, 8; Fecd8

Description

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy, Fuchs Endothelial, 8; Fecd8

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy

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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Corneal Dystrophy, Fuchs Endothelial, 8; Fecd8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
4 %
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
100 %
AGBL1.

By Fulgent Genetics Fulgent Genetics (United States).

AGBL1
Specificity
100 %
Genes
100 %

We have -5 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOLIPIDOSIS IV; ML4 ICHTHYOSIS PREMATURITY SYNDROME; IPS HYPERTRYPTOPHANEMIA; HYPTRP MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY ANXIETY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more