A novel KERA mutation associated with autosomal recessive cornea plana.
OBJECTIVE
To report a novel KERA mutation 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 KERA mutation. This mutation leads to replacement of an arginine by a stop codon at position 313 of keratocan protein.


CONCLUSIONS
This novel point mutation in KERA is the fourth thus far described. The ocular phenotype is characteristic of autosomal recessive cornea plana.
Khan
Arif
A
Department of Pediatrics, King Khaled Eye Specialist Hospital P.O. Box 7191 Riyadh 11462 Saudi Arabia. arif.khan@mssm.edu
Al-Saif
Amr
A
Kambouris
Marios
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011509:Proteoglycans / Q000235:genetics*; D035781:Siblings
D018389:Codon, Nonsense; C490948:KERA protein, human; D011509:Proteoglycans