CORNEAL DYSTROPHY, LATTICE TYPE IIIA

General Information (adopted from Orphanet):

Synonyms, Signs: LATTICE CORNEAL DYSTROPHY, TYPE IIIA
CDL3A
Number of Symptoms 7
OrphanetNr:
OMIM Id: 608471
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007663) Reduced visual acuity 100 / 7739
2
 (HPO:0000505) Visual impairment 297 / 7739
3
 (HPO:0001149) Lattice corneal dystrophy 7 / 7739
4
 (HPO:0200020) Corneal erosion 12 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Amyloid deposits in corneal stroma 1 / 7739
7
 (OMIM) Thick ropy lattice lines in the corneal stroma 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Yamamoto et al. (1998) used the designation lattice corneal dystrophy type IIIA for a disorder that resembled type III (204870) clinically but differed in that its age of onset was late (70 to 90 years) and it had ...
Molecular genetics OMIM Yamamoto et al. (1998) identified a mutation in the TGFBI gene (601692.0005) that caused type IIIA lattice corneal dystrophy.

Stix et al. (2005) identified a missense mutation in the TGFBI gene (601692.0010) in a family with ...