ASSESSMENT OF THE VALUE OF CONGENITAL HYPERTROPHY OF THE RETINAL-PIGMENT EPITHELIUM AS AN OCULAR MARKER FOR FAMILIAL ADENOMATOUS POLYPOSIS-COLI

The presence of bilateral, multiple patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is cited as an early phenoty pic marker of the familial adenomatous polyposis coli (FAPC) gene. How ever, the degree of concordance between CHRPE and the presence of fami lial adenomatous polyposis (FAP) has not been adequately assessed in i ndividual families. We studied the eyes of 28 members of a single kind red spanning three generations with FAPC; 14 were affected and 14 unaf fected but 'at risk'. Six affected and 8 unaffected at risk individual s possessed a total of 34 retinal lesions, 17 in each group. Two affec ted individuals and 1 at risk individual had the classical pattern of CHRPE associated with FAPC. The sensitivity of CHRPE as an ocular mark er for FAPC in this kindred was 14.2%. Our findings have implications for the use of CHRPE for the pre-symptomatic screening of family membe rs at risk of FAPC. Therefore, ocular examination should not replace c olonoscopic screening in an individual at risk of FAPC.