Article
[Congenital hypertrophy of retinal pigment epithelium: a marker in familial adenomatous polyposis].
Journal francais d'ophtalmologie - 1 Apr 1999
Szwarcberg J, Limacher J M, Fricker J P, Flament J
Abstract excerpt
PURPOSE: Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder with marked propensity for malignant transformation. The potential for congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for this disease is recognized. MATERIAL AND METHODS: We report our investigations in 11 families with familial adenomatous polyposis. CHRPE characteristics were described...
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