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

1987

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…