| H01029 | |
| H number | H01029 |
| 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 |
| Network | - |
| Gene | (CNA2) KERA [HSA:11081] [KO:K08123] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 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 |