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M.R. Vakharia, A.J. Karoukis, A. Gupta, R. Ayyagari, S.I. Mian; Hereditary Corneal Stromal Dystrophies: Correlation of TGFB1 Gene Mutations to Surgical Outcomes . Invest. Ophthalmol. Vis. Sci. 2005;46(13):4941.
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Purpose: To determine the relationship between specific TGFB1 gene mutations and the time to recurrence after corneal surgery for hereditary corneal stromal dystrophies. Methods: Records of thirty–five patients with hereditary corneal stromal dystrophies who have undergone corneal surgery were reviewed for age of first corneal surgery, visual acuity, time to recurrence of dystrophy, and need for further treatment. DNA was isolated, and the TGFB1 gene was screened for common mutations by PCR amplification and gene sequencing. Results: The mean age of first corneal surgery was 56 years ± 1, 37 years ± 12, and 20 years ± 7 for patients with the R555W (n=4), R124C (n=12), and R124L (n=8) mutations respectively. The mean time to recurrence of corneal dystrophy after surgery was 9 years ± 1, 6 years ± 4, and 2 years ± 1 for patients with the R555W, R124C, and R124L mutations respectively. Conclusions: Our data suggest the R124L mutation in the TGFB1 gene confers a more aggressive clinical course, with earlier corneal surgery and earlier recurrence. Investigation of additional patients is needed to confirm this observation. Genetic analysis for patients with hereditary corneal stromal dystrophies may help optimize the timing of surgery as well as assist in offering prognostic information and genetic counseling.
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