The importance of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.
We describe a family with familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (RPE). Three of five members with FAP showed flat, well-demarcated, round to oval pigmented patches of congenital hypertrophy of the RPE. We stress the importance of congenital hypertrophy of the RPE as a clinical marker in identifying patients with FAP since they are at risk for cancer.
Martow
J
J
Ophthalmology Service, Montreal Children's Hospital, PQ.
Polomeno
R C
RC
Lewandowski
R
R
Daly
D
D
Miller
S
S
Jutras
L
L
Koehn
D
D
Der Kaloustian
V M
VM
D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics; D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage; D006801:Humans; D006984:Hypertrophy / Q000150:complications / Q000151:congenital / Q000235:genetics; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000503:physiopathology*; D012307:Risk Factors