Congenital hypertrophy of retinal pigment epithelium (CHRPE) as a marker for familial adenomatous polyposis (FAP).
Seventy-eight patients from 26 families were examined to evaluate the potentiality of congenital hypertrophy of retinal pigment epithelium (CHRPE) as a phenotypic marker for familial adenomatous polyposis (FAP). The examined subjects were divided into three different groups: Group I, patients with FAP without extra colonic manifestations (ECM); Group II, patients with FAP and ECM (desmoids/osteomas/upper gastrointestinal adenomas); and Group III, individuals at risk without FAP. Of 24 Group I patients (median age 18 years) 16 had CHRPE compared with 14 out of 24 patients (median age 29 years) in Group II and only three out of 30 patients in Group III. The overall sensitivity of CHRPE for FAP was 70% (+/- 13%) without any difference related to ECM; the predictive value was 92%. The specificity calculated from Group III (median age 26 years) was 90%, but the results should not be considered as definitive because a longer follow-up to determine the appearance of adenomas is required. The data suggest that examination for CHRPE is an inexpensive, non-invasive test for FAP, but the absence of retinal lesions does not eliminate the necessity for adequate follow-up of individuals at risk.
Bertario
L
L
Department of Surgical Oncology, Istituto Nazionale Tumori, Milan, Italy.
Bandello
F
F
Rossetti
C
C
Sala
P
P
Fortini
E
E
Spinelli
P
P
Gennari
L
L
Pietroiusti
M
M
Presciuttini
S
S
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000150:complications / Q000151:congenital; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*