FREQUENCY OF CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUMIN FAMILIAL ADENOMATOUS POLYPOSIS

Congenital hypertrophy of the retinal pigment epithelium is a recogniz ed clinical marker in familial adenomatous polyposis as an expression of the altered gene in this autosomal dominant disease, Ocular lesions could be discovered years before the development of intestinal polypo sis. We studied 29 diagnosed patients, 38 relatives (first degree) of familial adenomatous polyposis kindreds and 26 controls (general popul ation), Number, size and bilaterality of pigmented lesions were analys ed in order to separate members affected and non affected by intestina l polyposis in familial adenomatous polyposis kindreds, Three of 26 fa miles (23%) had patients with polyposis and normal fundus, Bilateralit y and more than 4 lesions improved specificity or sensibility of the f undus examination. However, the best efficacy of the test was obtained with large lesions (sensibility 0.82 and specificity 0.97).