J Korean Ophthalmol Soc.  1992 Jul;33(7):662-666.

Two Cases of Congenital Hypertrophy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis

• Kim HK
• Han YB

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.

Keyword

Congenital Hypertrophy of the Retinal Pigment Epithelium; Familial Aclenomatous Polyposis

MeSH Terms

Adenomatous Polyposis Coli*
Female
Gardner Syndrome
Genetic Diseases, Inborn
Humans
Hypertrophy*
Incidence
Mass Screening
Retinal Pigment Epithelium*
Retinaldehyde*
Retinaldehyde