Which condition presents with tear-shaped CHRPEs and has a high correlation with colon cancer?

Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by the development of numerous adenomatous polyps in the colon and rectum, which significantly increase the risk of colorectal cancer. One of the ocular manifestations associated with FAP is the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE), which can appear as tear-shaped lesions.

These tear-shaped CHRPEs are often considered a classic finding in individuals with FAP, making it a notable indicator for early screening and intervention for colorectal cancer. Individuals with this genetic condition can have hundreds to thousands of polyps in the colon, and without appropriate treatment, there is virtually a 100% lifetime risk of developing colon cancer.

The high correlation between tear-shaped CHRPEs and colon cancer in the context of FAP underscores the importance of recognizing these ocular signs in conjunction with the systemic aspects of the disease for timely and effective management.