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N. Yamada, K. Kawamoto, N. Morishige, T.-I. Chikama, T. Nishida; Double Mutation (R124H, N544S) of TGFBI in an Individual With Clinical Manifestations of Avellino Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1015. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
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.
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.
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.
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.
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