| Congenital Hypertropthy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis Coli. |
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Jong Geun Shin, Kyung Hyun Jin, Hyung Woo Kwak, Kee Hyung Lee |
1Department of Ophthalmology, College of Medicine, Kyung Hee University, Korea.
2Department of General Surgery, College of Medicine, Kyung Hee University, Korea. |
| 한 가족에서 발생한 가족성 선종성 용종이 동반된 선천성 망막색소상피 비대증 |
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신종근(Jong Geun Shin),진경현(Kyung Hyun Jin),곽형우(Hyung Woo Kwak),이기형(Kee Hyung Lee) |
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| Abstract |
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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been described in association with systemic disorders such as Gardner's syndrome (intestinal polyposis, osteomas, and benign soft-tissue tumors), Turgot's syndrome (glioma-polyposis syndrome) and familial adenomatous polyposis (FAP) of the colon. FamiIial adenomatous polyposis is an autosomal dominant disorder characterized by hundreds of polyps throughout the entire colon, and in all patients carcinoma of the color, develops at the age of 40 to 50 years. We describe a family with familial adenomatous polylpcsis coli and congenital hypertrophy of the retinal pigment epithelium. All of them except mother showed flat, weII-demarcated, round to oval pigmented patches of CHRPE. We emphasize the importance of CHRPE as a clinical marker in identifying patients With FAP since they are at risk for cancer. |
| Key Words:
CHRPE (congenital hypertrophy of retinal pigment epithelium);FAP (familial adenomatous polyposis) |
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