Objective: To investigate the incidence and predictive value of congenital hypertrophy of retinal pigment epithelium (CHRPE) in the Chinese familial adenomatous polyposis (FAP) patients.
Methods: Eleven FAP patients and 28 at risk relatives from 7 families were examined for CHRPE lesions.
Results: CHRPE was present in all 11 FAP patients. Nine CHRPE lesions were found in 9 of the 28 at risk relatives. There were great intra and inter-familial variations of the CHRPE lesions. Two at risk relatives were diagnosed to have FAP only after our screening and subsequent proctosigmoidoscopy. Nine at risk relatives were put under high surveillance because of the presence of CHRPE.
Conclusion: The incidence of CHRPE in the FAP patients in our study is 100%. Eye examination for CHRPE for FAP patients and their at risk relatives is of very high value. A central FAP registry is thus recommended.