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J. A. Dovich, V. S. Yellore, B. Sonmez, S. A. Rayner, A. J. Aldave; A Late Onset, Unilateral Variant of Lattice Corneal Dystrophy Not Associated With a TGFBI Mutation. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5856.
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To report a case of late onset, unilateral lattice corneal dystrophy with no mutations in the TGFBI gene.
A 51-year-old woman developed unilateral, branching, refractile stromal opacities resembling lattice lines in her left cornea over a one to two year period. DNA was collected from the patient, and polymerase chain reaction (PCR) amplification, quantitative PCR analysis and automated sequencing were performed for all 17 exons of the TGFBI gene.
Direct sequencing of the coding region of TGFBI revealed that no mutations were present in any of the 17 exons or in any of the intron-exon boundary regions. Quantitative PCR analysis of the two putative promoter regions of TGFBI and of each of the 17 exons revealed a normal copy number of each, excluding the possibility of a promoter or coding region deletion resulting in loss of function of TGBFI.
Although late-onset, unilateral variants of lattice corneal dystrophy have been described in association with mutations in the TGFBI gene, we report the first such case that is not associated with a TGBFI coding region mutation.
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