Preferred Label : Corneal dystrophy, fuchs endothelial, 1;
Symbol : FECD1;
CISMeF acronym : FECD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Corneal dystrophy, fuchs endothelial, early-onset;
Description : Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized
by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence
of FECD has been estimated at about 5% among persons over the age of 40 years in the
United States. The vision loss in patients with FECD results from a loss of corneal
transparency associated with irregularity of inner corneal layers in early disease
and edema of the cornea in advanced disease. Ultrastructural features of FECD include
loss and attenuation of endothelial cells, with thickening and excrescences of the
underlying basement membrane. These excrescences, called guttae, are the clinical
hallmark of FECD and become more numerous with progression of the disease. As the
endothelial layer develops confluent guttae in the central cornea, the cells are no
longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010).
- Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy More common, late-onset
forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206)
on chromosome 20p13-p12 (FECD4; 613268), the ZEB1 gene (189909) on chromosome 10p11.2
(FECD6; 613270), and the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523).
Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2;
610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7;
613271).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the collagen type VIII alpha-2 gene (COL8A2, 120252.0001);
Prefixed ID : #136800;
Origin ID : 136800;
UMLS CUI : C1850959;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
