Comments and Conclusion (cont’d)

  • CHRPE-like lesions have been given the name pigmented ocular fundus lesions (POFLs) due to their dissimilar clinical characteristics to solitary and grouped CHRPE lesions, and have been shown to be present in approximately two thirds of patients known to have FAP.1,8
  • Eye care specialists have used the term, Gardner’s syndrome, to describe the association of these fundus lesions (POFLs) with colorectal cancer.8
  • Genetic studies have shown POFLs to be associated with mutations in the APC gene, the same gene associated with FAP. These retinal lesions were only present if the mutation was located between codons 463 and 1387 of the APC gene, which might explain why one third of patients with FAP do not exhibit POFLs.8
  • It has been postulated that simple, non-invasive, reliable, and reproducible examination of the fundus, such as with optos®, allows early screening before the age of the first colonoscopy, of children who are carriers of the affected APC gene leading to FAP.8