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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...

Topics

Adenomatous Polyposis Coli
Adolescent
Adult
Child
Family Health
Female
Humans
Hypertrophy
Male
Middle Aged
Pedigree
Phenotype
Pigment Epithelium of Eye

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Predictive Value of Tests

Source

Identifiers

PMID: 8253239
DOI: 10.1038/eye.1993.122

Genes

FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8253239-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.PMID 8253239Read ↗

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