J Korean Ophthalmol Soc.  2000 Nov;41(11):2509-2513.

Atypical Congenital Hypertrophy of the Retinal Pigment Epithelium in Gardner's Syndrome

  • 1Department of Ophthalmology, Wonju Christian Hospital, Yonsei University Wonju College of Medicine #162 Ilsan-dong, Wonju, 220-701, Korea.


Congenital hypertrophy of the retinal pigment epithelium (CHRPE)is a well circumscribed, flat, pigmented fundus lesion that have a variety of shapes. It is the most common extracolonic manifestation of Gardner's syndrome. The number and shape of CHRPE should arouse suspicion of increased risk of polyposis.We experienced one case of Gardner's syndrome in a family history of colonic carcinoma that showed atypical congenital hypertrophy of the retinal pigment epithelium, osteoma, epidermal cyst and polyposis combined with colonic carcinoma.A total colectomy and ileostomy were performed.So we reported it with the review of literature of clinical value of CHRPE as a predictive marker of Gardner's syndrome.


Congenital hypertrophy of the retinal pigment epithelium (CHRPE); Gardner's syndrome
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