J Korean Ophthalmol Soc.  1998 Dec;39(12):3108-3114.

Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Colonic Polyposis

• Lee JH
• Kim JM
• Kim SD

Abstract

Congenital hypertrophy of the retinal pigment epithlium(CHRPE)is a well-circumscribed, flat, pigmented fundus lesion that is presented solitary or grouped. It is the most common extracolonic manifestation of familial adenomatous polyposis(FAP). Unfortunately, there is no phenotypic biochemical abnormality or serological marker which indicates whether or not a family member will be affected FAP. However, most of patients with polyposis have CHRPE which is usually multiple and bilateral, The presence of CHRPE in a family member should therefore arouse suspicion of increased risk of polyposis. We experienced one case of familial adenomatous polyposis that showed no extracolonic manifestation except multiple, bilateral fundus lesions. A prophylactic total colectomy was performed. So we report it with the review of literature of clinical value of CHRPE as a predictive congenital marker of FAP.

Keyword

Congenital hypertrophy of the retinal pigment epithelium(CHRPE); Familial adenomatous polyposis(FAP)

MeSH Terms

Adenomatous Polyposis Coli
Colectomy
Colon*
Humans
Hypertrophy*
Retinal Pigment Epithelium*
Retinaldehyde*
Retinaldehyde