Epithelial Recurrent Erosion Dystrophy
Description
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Clinical Features
Top most frequent phenotypes and symptoms related to Epithelial Recurrent Erosion Dystrophy
- Pain
- Visual impairment
- Photophobia
- Corneal opacity
- Corneal dystrophy
- Epiphora
- Keratitis
- Corneal erosion
- Corneal neovascularization
- Recurrent corneal erosions
And another 1 symptoms. If you need more information about this disease we can help you.
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
Epithelial Recurrent Erosion Dystrophy Is also known as corneal erosions, recurring hereditary, dystrophia smolandiensis, dystrophia helsinglandica, ered, recurrent hereditary corneal erosions.
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.Epithelial Recurrent Erosion Dystrophy Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 EBSeq Epidermolysis Bullosa Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
|
COL17A1 Gene Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
COL17A1
Specificity
100 %
Genes
100 % |
|
COL17A1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
COL17A1
Specificity
100 %
Genes
100 % |
|
EB (Epidermolysis Bullosa) Deletion/Duplication panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 % |
 COL17A1.
By Institute for Human Genetics University Clinic Freiburg (Germany).
COL17A1
Specificity
100 %
Genes
100 % |
 COL17A1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
COL17A1
Specificity
100 %
Genes
100 % |
 Epidermolysis bullosa junctional (sequence analysis of COL17A1 gene).
By CGC Genetics (Portugal).
COL17A1
Specificity
100 %
Genes
100 % |
|
Epidermolysis bullosa (NGS panel for 18 genes).
By CGC Genetics (Portugal).
DST, FERMT1, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Specificity
6 %
Genes
100 % |
You can get up to 25 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 HEMOCHROMATOSIS, TYPE 2A; HFE2A AROMATASE EXCESS SYNDROME; AEXS CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB LI-FRAUMENI SYNDROME 1; LFS1 NIEMANN-PICK DISEASE, TYPE C1; NPC1