Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome.
Congenital hypertrophy of retinal pigment epithelium (CHRPE) has been shown to be a frequent extracolonic manifestation of adenomatous polyposis coli (APC). The presence of CHRPE in patients with adenomatous polyps from families with cancer family syndrome suggests possible involvement of the APC gene locus in syndromes associated with less florid polyp formation than seen in APC. It also emphasises that caution must be exercised in using the presence of CHRPE clinically as a marker for APC in isolated at-risk individuals.
Houlston
R S
RS
Department of Clinical Genetics, Royal Free Hospital and School of Medicine, London, UK.
Fallon
T
T
Harocopos
C
C
Williams
C B
CB
Davey
C
C
Slack
J
J
D000236:Adenoma / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis; D000328:Adult; D000368:Aged; D003110:Colonic Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012164:Retinal Diseases / Q000150:complications / Q000151:congenital*