CORNEA PLANA 2

General Information (adopted from Orphanet):

Synonyms, Signs: CNA2
Number of Symptoms 12
OrphanetNr:
OMIM Id: 217300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001084) Corneal arcus 8 / 7739
2
(HPO:0007720) Flat cornea 6 / 7739
3
(HPO:0100689) Decreased corneal thickness 2 / 7739
4
(HPO:0000540) Hypermetropia 99 / 7739
5
(OMIM) Indistinct sclerocorneal boundary 1 / 7739
6
(OMIM) Reduced visual activity 1 / 7739
7
(OMIM) Thin cornea 1 / 7739
8
(OMIM) Corneal parenchymal opacities 1 / 7739
9
(OMIM) Hazy corneal limbus 1 / 7739
10
(OMIM) Early onset corneal arcus 1 / 7739
11
(OMIM) Extreme hyperopia 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. An autosomal dominant form (CNA1; 121400) is mild, whereas an autosomal recessive form ...
Clinical Description OMIM Eriksson et al. (1973) pointed out that the autosomal recessive form has more severe manifestations than the dominant form (CNA1; 121400) in terms of reduced visual activity, extreme hyperopia (usually +10 diopters (D) or more), hazy corneal limbus, ...
Molecular genetics OMIM Pellegata et al. (2000) cloned the human KERA gene as a candidate gene for CNA2 and identified mutations in 47 CNA2 patients. Forty-six Finnish patients were homozygous for a founder missense mutation leading to the substitution of a ...
Population genetics OMIM Cornea plana has a high prevalence in Finland. An extensive pedigree with 27 affected persons in 13 sibships was presented by Forsius et al. (1980).