Contributor: Gordon K. Klintworth
Cornea plana congenita is an inherited disorder in which the cornea is flatter and thinner than normal from birth. All cases have some degree of peripheral of central scleralization. Sclerocornea and/or microcornea may be associated. The condition may have an autosomal dominant (cornea plana type 1) or autosomal recessive (cornea plana type 2) mode of inheritance. The anterior chamber is flattened in both cornea plana type 1 and cornea plana type 2. Cornea plana type 1 can probably be caused by at least two genes. In a large family of with cornea plana type 1 in Cuba and the gene was mapped to chromosome 12 (12q); in a smaller family in Finland with cornea plana type 1 chromosome 12 was excluded. Cornea plana type 2, which occurs mainly in Northeastern Finland, has been mapped to human chromosome 12 (12q) and a single nucleotide substitution has been found in codon 247 of the KTN gene. All Finnish patients with cornea plana type 2 seem to share a common founding ancestor.