6533b7ddfe1ef96bd1275374

RESEARCH PRODUCT

Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.

subject

description

Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa­ tients with familial polyposis develop carcino­ ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur­ vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will be affected by the dis­ ease. In an ophthalmologic study of 24 patients from six families with familial polyposis of the colon, we found that 11 patients were free of intestinal disease and had normal ocular fundi. Ten patients with polyposis showed patches of congential hypertrophy of the retinal pigment epithelium. The remaining three patients snowed pigmentation of the fundus but no polyps of the colon. These three patients were less than 25 years old and, thus, may still develop the polyps. The occurrence of congenital hypertrophy of the retinal pigment epithelium has been de­ scribed in association with other systemic disorders such as familial microcephaly and Gardner's syndrome (intestinal polyposis, osteomas, fibromas, and epidermal cysts). One case of familial polyposis has been de­ scribed in association with angoid streaks. We believe the occurrence of retinal pigment epithelium hypertrophy may be considered a genetic ocular marker that provides evidence of patients at risk years before the occurrence of the polyposis of the intestinal tract.