BackgroundFamilial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population and is easy to detect.FindingsPatients diagnosed with FAP and at risk first degree family members were screened for CHRPE using a slit lamp and indirect ophthalmoscopy. The retina of 17 diagnosed FAP patients and 13 individuals at risk were examined. The site and size of CHRPE lesions were documented. Thirteen (76%) of 17 FAP patients (male-10, female – 7, median age - 30 years; range 15-55 years) had CHRPE lesions; seven (54%) had bilateral CHRPE lesions and six (46%) had unilateral lesions. A single lesion was detected in 6 (46%) while 7 (54%) patients had multiple lesions. Of 13 at risk individuals (7- male, female-6 ; median age 34; range 16-52 years), one was positive for CHRPE and 12 were free of retinal lesions. The sensitivity of the presence of a CHRPE lesion in association with colonic polyps in FAP was 76%, specificity 92%, positive predictive value 93%, and negative predictive value 75%.ConclusionsThis study found a high sensitivity and specificity for a CHRPE lesion to be associated with colonic polyps of FAP and hence a useful screening method in a burdened health-care system. The method is minimally invasive and simple and would be of particular value in screening children at risk for FAP.

Cronkhite-Canada syndrome is an extremely rare condition of gastrointestinal polyposis in which the main presenting features are diarrhoea and dysgeusia. The polyps in this condition are characteristically distributed throughout the entire gastrointestinal tract except the oesophagus, and these patients exhibit unique ectodermal abnormalities. Herein, we report a 50-year-old male who had recurrent episodes of severe haematochezia from the polyps in the colon. Further examination and investigations revealed a diagnosis of Cronkhite-Canada syndrome. Proctocolectomy was carried out for medically refractory haematochezia and the patient is asymptomatic at present.