Cornea plana congenita

Definition:

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.

References:

[1]. A Sigler-Villanueva, et al. Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. Ophthalmic Genet. 1997 Jun;18(2):55-62. [Content Brief]

[2]. E Tahvanainen, et al. The genetics of cornea plana congenita. J Med Genet. 1996 Feb;33(2):116-9. [Content Brief]

[3]. H Forsius, et al. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand. 1998 Apr;76(2):196-203. [Content Brief]

[4]. N S Pellegata, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet. 2000 May;25(1):91-5. [Content Brief]

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