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Article

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.

Eye (London, England) - 1 Jan 1993

Hickey-Dwyer M U, Willoughby C E

Abstract excerpt

The presence of bilateral, multiple patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is cited as an early phenotypic marker of the familial adenomatous polyposis coli (FAPC) gene. However, the degree of concordance between CHRPE and the presence of familial adenomatous polyposis (FAP) has not been adequately assessed in individual families. We studied the eyes of 28 members of a single...

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Source

Identifiers

PMID: 8253239
DOI: 10.1038/eye.1993.122

Genes

FAP

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Source receipt: pubmed, retrieved 7 Sept 2026.

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