OCULAR FINDINGS IN FAMILIAL ADENOMATOUS POLYPOSIS

Background: Retinal pigment epithelium (RPE) lesions are predictive co ngenital phenotypic markers for familial adenomatous polyposis (FAP). This prospective screening study aims at assessing the incidence and s ignificance of these lesions in FAP patients and their family members. Methods: Sixty-two members from three families including five patient s with the diagnosis of FAP have been ophthalmologically surveyed. All RPE lesions were documented with fundus photography and fluorescein a ngiography was performed in 13 subjects. Sigmoidoscopy and/or radiolog ical examination were performed annually in 9 family members with typi cal RPE lesions during 4 pears to allow early diagnosis of FAP. Result s: Typical RPE lesions were present in five FAP patients and 15 family members. Telangiectatic dilatations in the retinal periphery with sma ll dot-like hemorrhages were detected in 6 subjects from 3 families Th ese lesions were particularly evident on fluorescein angiography. Annu al colon analysis showed polyps in 3 out of 9 subjects who were positi ve for RPE lesions. Conclusion: RPE lesions are valuable as a clinical marker in predicting FAP. The co-existing peripheral vascular alterat ions which have not been reported before, are probably related to FAP.