Reis-Bücklers corneal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: REIS-BUCKLERS CORNEAL DYSTROPHY
GRANULAR CORNEAL DYSTROPHY, TYPE III
CORNEAL DYSTROPHY, GEOGRAPHIC
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
CDRB
CDB1
RBCD
Superficial granular corneal dystrophy
Atypical granular corneal dystrophy
Geographic corneal dystrophy
Anterior limiting membrane dystrophy type I
Granular corneal dystrophy type III
Corneal dystrophy of Bowman layer type I
Number of Symptoms 6
OrphanetNr: 98961
OMIM Id: 608470
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:0000613) Photophobia 16606891 IBIS 158 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0200020) Corneal erosion 16606891 IBIS 12 / 7739
5
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Paufique and Bonnet (1966) described a family with members in 3 generations affected by Reis-Buckler corneal dystrophy. Most of the affected persons also had strabismus. The cornea presented a 'dusty' opacity and a rough map-like surface with a ...
Molecular genetics OMIM 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: arg555 to trp (R555W; 601692.0001) in ...