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Index Case of Familial Adenomatous Polyposis Revealed by Congenital Hypertrophy of the Retinal Pigment Epithelium
- Robert L. Holmes, DO;
- Saket K. Ambasht, MD; and
- Patrick S. Kelley, MD
- From Keesler Medical Center, Keesler Air Force Base, MS 39554.
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TO THE EDITOR:
Background: Familial adenomatous polyposis and phenotypic variants, including the Gardner syndrome, are autosomal-dominant diseases resulting from germline mutation of the adenomatous polyposis coli (APC) gene. Congenital hypertrophy of the retinal pigment epithelium (CHRPE), a benign retinal lesion without visual sequelae, is estimated to be …
