Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.


PURPOSE To report the clinical and molecular study of a family with an autosomal dominant stromal granular dystrophy of the cornea caused by a novel and unusual TGFBI gene mutation. METHODS A complete ophthalmological examination, corneal dystrophy phenotype characterization, PCR amplification, and automated nucleotidic sequencing of exons 4, 11,12, 13… (More)


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