Subepithelial mucinous corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY
SMCD
Number of Symptoms 3
OrphanetNr: 98959
OMIM Id: 612867
ICD-10: H18.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Superficial corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001131) Corneal dystrophy 56 / 7739
2
(HPO:0000529) Progressive visual loss 54 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Feder et al. (1993) described a family in which members of 3 successive generations had anterior corneal dystrophy. The onset was characterized by frequent, recurrent corneal erosions in the first decade of life. This subsided during adolescence and ...