CORNEAL DYSTROPHY, LATTICE TYPE I

General Information (adopted from Orphanet):

Synonyms, Signs: LATTICE CORNEAL DYSTROPHY, TYPE I
LCD1
CDL1
LCD
Number of Symptoms 4
OrphanetNr:
OMIM Id: 122200
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:0000495) Recurrent corneal erosions 20 / 7739
2
(HPO:0001149) Lattice corneal dystrophy 7 / 7739
3
(OMIM) Polymorphic geographic deposits at Bowman's layer 1 / 7739
4
(OMIM) Progressive visual impairment, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Frayer and Blodi (1959) described a family. Grayish lines like cotton threads are mainly limited to a zone between the center of the cornea and the periphery, usually not extending to the limbus. Rounded dots with distinct borders ...
Molecular genetics OMIM Munier et al. (1997) established that mutation of the gene encoding keratoepithelin (601692.0003) can cause LCD1. They postulated that the mutation resulted in amyloidogenic intermediates.

Kim et al. (2002) studied the molecular properties of wildtype and ...