Thiel-Behnke corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
THIEL-BEHNKE CORNEAL DYSTROPHY
CORNEAL DYSTROPHY, HONEYCOMB-SHAPED
CDTB
CDB2
TBCD
Honeycomb corneal dystrophy
Curly fiber corneal dystrophy
Corneal dystrophy of Bowman layer type II
Anterior limiting membrane dystrophy type II
Waardenburg-Jonker corneal dystrophy
Number of Symptoms 6
OrphanetNr: 98960
OMIM Id: 602082
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
Adolescent
Adult
[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:0007755) Juvenile epithelial corneal dystrophy 1 / 7739
3
(HPO:0000613) Photophobia 158 / 7739
4
(HPO:0000559) Corneal scarring 9 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Corneal pain 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thiel and Behnke (1967) described an autosomal dominant form of corneal dystrophy characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. They examined 74 members of a 4-generation family and identified 26 affected individuals.

To ...

Molecular genetics OMIM - Mutation in TGFBI

In 6 families with various forms of corneal dystrophy, Munier et al. (1997) identified missense mutations in the TGFBI gene. All the mutations occurred at the CpG dinucleotide of 2 arginine codons: ...