Granular corneal dystrophy type II

General Information (adopted from Orphanet):

Synonyms, Signs: GRANULAR CORNEAL DYSTROPHY, TYPE II
COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY
GCDII
ACD
CGD2
CDA
GCD2
avellino corneal dystrophy
Granular-lattice corneal dystrophy
Granular corneal dystrophy type 2
Number of Symptoms 13
OrphanetNr: 98963
OMIM Id: 607541
ICD-10: H18.5
UMLs: C1275685
MeSH: C535474
MedDRA:
Snomed: 397568004

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: Stromal corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000505) Visual impairment 297 / 7739
2
(HPO:0007663) Reduced visual acuity 100 / 7739
3
(HPO:0001149) Lattice corneal dystrophy 7 / 7739
4
(OMIM) Deeper, fusiform lattice deposits develop later 1 / 7739
5
(OMIM) Recurrent erosions uncommon 1 / 7739
6
(OMIM) Granular deposits replace epithelial basement membrane 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Histopathology shows fusiform amyloid deposits in the deeper stroma as seen in lattice dystrophy 1 / 7739
9
(OMIM) Foreign body sensation if erosions occur 1 / 7739
10
(OMIM) Halos around lights 1 / 7739
11
(OMIM) Histopathology shows hyaline changes consistent with granular dystrophy in the anterior stroma 1 / 7739
12
(OMIM) Gray, crumb-like granular deposits in anterior third of stroma 1 / 7739
13
(MedDRA:10052128) Glare 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) A number sign (#) is used with this entry because the Avellino type of corneal dystrophy (CDA) is caused by mutation in the gene encoding keratoepithelin (TGFBI; 601692). Several other forms of autosomal dominant corneal dystrophy are caused ...
Clinical Description OMIM Avellino corneal dystrophy was first described by Folberg et al. (1988). They reported 4 patients who had been diagnosed clinically as having granular dystrophy. However, pathologic examination of the corneal buttons removed from each patient after penetrating keratoplasty ...
Molecular genetics OMIM Munier et al. (1997) identified mutations in keratoepithelin that resulted in four 5q31-linked autosomal dominant corneal dystrophies: Groenouw type I (CDGG1; 121900), Thiel-Behnke type (CDTB; 602082), lattice dystrophy type I (CDL1; 122200), and CDA. They studied 6 families ...
Population genetics OMIM Mashima et al. (2000) evaluated the incidence of TGFBI gene mutations in 164 unrelated Japanese patients with autosomal dominant corneal stromal dystrophies: 72% carried the R124H mutation associated with CDA; 14% had the R124C mutation associated with lattice ...