Abstract
Purpose: :
The R124H mutation of the keratoepithelin gene TGFBI causes Avellino corneal dystrophy, whereas the N544S mutation of this gene gives rise to lattice corneal dystrophy type IIIA. We now report a case of a 75-year-old woman with both R124H and N544S mutations of TGFBI.
Methods: :
Genomic DNA and RNA were obtained from the proband with written informed consent and were subjected to polymerase chain reaction-mediated amplification of exons 1 to 17 of TGFBI. The amplification products were directly sequenced.
Results: :
Molecular genetic analysis revealed that the patient harbored both a CGC → CAC (Arg → His) mutation at codon 124 and an AAT → AGT (Asn → Ser) mutation at codon 544 of TGFBI. Slitlamp examination revealed multiple granular regions of opacity in the surface-to-middle portion of the corneal stroma in both eyes of the patient. Lattice lines were not apparent in either eye.
Conclusions: :
As far as we are aware, this is the first report of a patient with a double mutation (R124H, N544S) of TGFBI causing an autosomal dominant form of corneal dystrophy. The clinical manifestations of the double mutation resembled Avellino corneal dystrophy.
Keywords: cornea: clinical science • genetics • cornea: stroma and keratocytes