Corneal dystrophy, fuchs endothelial, 2

Preferred Label : Corneal dystrophy, fuchs endothelial, 2;

Symbol : FECD2;

CISMeF acronym : FECD2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Corneal dystrophy, fuchs endothelial, late-onset; Fcd1 locus;

Description : For a general description and a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).;

Inheritance : Autosomal dominant;

Prefixed ID : %610158;

Details

Origin ID

610158;

UMLS CUI

C1857800;

DO Cross reference
- Fuchs' endothelial dystrophy [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal degeneration [HPO term]
- Corneal dystrophy [HPO term]
- Corneal guttata [HPO term]
- Edema [HPO term]
ORDO concept(s)
- Fuchs endothelial corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy, Fuchs' endothelial, 2 [MeSH concept]
- corneal dystrophy, fuchs' endothelial, 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Fuchs endothelial corneal dystrophy [ORDO Disease]
- Fuchs' endothelial dystrophy [DO Concept]

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