title: The importance of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.
abstract: 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.
authors.affiliation: Ophthalmology Service, Montreal Children's Hospital, PQ.
authors.forename: J
authors.initials: J
authors.lastname: Martow
authors.forename: R C
authors.initials: RC
authors.lastname: Polomeno
authors.forename: R
authors.initials: R
authors.lastname: Lewandowski
authors.forename: D
authors.initials: D
authors.lastname: Daly
authors.forename: S
authors.initials: S
authors.lastname: Miller
authors.forename: L
authors.initials: L
authors.lastname: Jutras
authors.forename: D
authors.initials: D
authors.lastname: Koehn
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
mesh_terms: 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