Article
A novel PIKFYVE mutation in fleck corneal dystrophy.
Molecular vision - 1 Jan 2011
Kotoulas Andreas, Kokotas Haris, Kopsidas Konstantinos, Droutsas Konstantinos, Grigoriadou Maria, Bajrami Hasret, Schorderet Daniel F, Petersen Michael B
Abstract excerpt
PURPOSE: To report the findings of the clinical and molecular evaluation in a Greek family with fleck corneal dystrophy (CFD). METHODS: A 58-year-old woman was seen on routine ophthalmic examination and diagnosed as having CFD. All available family members were examined to evaluate the clinical findings and inheritance of the disease. Twenty members of the family in five generations underwent slit-lamp...
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