KEGG DISEASE: Cornea plana congenita

DISEASE: Cornea plana congenita

Entry

H01029                      Disease

Name

Cornea plana congenita

Description

Cornea plana congenita is a rare hereditary anomaly in which the normal protrusion of the cornea from the sclera is missing. Clinical features include hyperopia, slight microcornea, an extended limbus zone, and arcus lipoides seen even before the age of 20. Cornea plana congenita occurs in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. CNA2 has a high prevalence in the Finnish population due to strong founder effect.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H01029  Cornea plana congenita

Gene

(CNA2) KERA [HSA:11081] [KO:K08123]

Other DBs

ICD-11:

LA11.1

ICD-10:

Q13.4

OMIM:

217300 121400

Reference

PMID:8929947

Authors

Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A

Title

The genetics of cornea plana congenita.

Journal

J Med Genet 33:116-9 (1996)
DOI:10.1136/jmg.33.2.116

Reference

PMID:9591953

Authors

Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E

Title

Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland.

Journal

Acta Ophthalmol Scand 76:196-203 (1998)
DOI:10.1034/j.1600-0420.1998.760215.x

Reference

PMID:9228241

Authors

Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H

Title

Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature.

Journal

Ophthalmic Genet 18:55-62 (1997)
DOI:10.3109/13816819709057116

Reference

PMID:10802664

Authors

Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A

Title

Mutations in KERA, encoding keratocan, cause cornea plana.

Journal

Nat Genet 25:91-5 (2000)
DOI:10.1038/75664

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (8)   

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