The authors studied pigmented ocular fundus lesions in three different forms of hereditary gastrointestinal polyposis and in hereditary nonpolyposis colorectal cancer. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was present in at least one member of 23 families with Gardner's syndrome. By contrast, CHRPE was not found in three families with familial polyposis coli, four families with hereditary nonpolyposis colorectal cancer, and three families with Peutz-Jeghers syndrome. Pigmented ocular fundus lesions of the CHRPE-type appear to be specific to Gardner's syndrome among inherited diseases with gastrointestinal polyposis.
- Gardner's syndrome
- Peutz-Jeghers syndrome
- congenital hypertrophy of the retinal pigment epithelium
- familial adenomatous polyposis coli
- hereditary nonpolyposis colorectal cancer
- pigmented ocular fundus lesions
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