A novelKERAmutation associated with autosomal recessive cornea plana

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Abstract
Purpose:To report a novel KERAmutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes. Methods:Ophthalmic examination, biometry, and direct sequencing of KERA. Results:Five of the 6 siblings were affected and had small flat corneas, variable anterior chamber depths, and short axial lengths. The remaining brother and the 2 parents had normal ophthalmic examinations. Genetic testing revealed a novel homozygous nonsense mutation in exon 3 [937C>T] in the clinically affected individuals. The clinically unaffected parents were confirmed as carriers. The clinically unaffected sibling had no KERAmutation. This mutation leads to replacement of an arginine by a stop codon at position 313 of keratocan protein. Conclusions:This novel point mutation in KERAis the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana.