The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.
Patients expressing congenital hypertrophy of the retinal pigment epithelium (CHRPE) are clustered within specific families with familial adenomatous polyposis (FAP). CHRPE has been found to be dependent on the position of the mutation in the adenomatous polyposis coli (APC) gene. The significance of the CHRPE finding in view of this new evidence is discussed.
Reck
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AC
Department of Ophthalmology, Salisbury District Hospital, Southampton, UK.
Bunyan
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Eccles
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Humphry
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R
D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D005091:Exons; D017491:Genes, APC; D006801:Humans; D006984:Hypertrophy / Q000151:congenital / Q000209:etiology / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010857:Pigment Epithelium of Eye / Q000473:pathology*