Two Cases of Congenital Hypertrophy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis.
- Author:
Hyun Kyung KIM
1
;
Young Bock HAN
Author Information
1. Dapartment of Ophthalmology, College of Medicine Ewha Womans University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Congenital Hypertrophy of the Retinal Pigment Epithelium;
Familial Aclenomatous Polyposis
- MeSH:
Adenomatous Polyposis Coli*;
Female;
Gardner Syndrome;
Genetic Diseases, Inborn;
Humans;
Hypertrophy*;
Incidence;
Mass Screening;
Retinal Pigment Epithelium*;
Retinaldehyde*
- From:Journal of the Korean Ophthalmological Society
1992;33(7):662-666
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Familial adenomatous polyposis (FAP) is a rare hereditary disease that undergo malignant change and recent reports have described a very high incidence (87.5%-100.0%) of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in Gardner's syndrome and familial adenomatous polyposis. Recognization of CHRPE lesion in ophthalmological screening test for the familial members with FAP is helpful not only in prediciting the presence of adenomatous polyposis and malignant carcinoma but also in genetic counselling. Authors have examined and report 2 female patients with similar CHRPE lesions in both fundus and thus diagnosed FAP following surgical examination.
