title: Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
abstract: BACKGROUND
  Familial 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.
  
  
  RESULTS
  Patients 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%.
  
  
  CONCLUSIONS
  This 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.
authors.forename: Anwer
authors.initials: A
authors.lastname: Nusliha
authors.forename: Ushantha
authors.initials: U
authors.lastname: Dalpatadu
authors.forename: Binara
authors.initials: B
authors.lastname: Amarasinghe
authors.forename: Pramodh Chitral
authors.initials: PC
authors.lastname: Chandrasinghe
authors.affiliation: Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka. radihan@mail.ewisl.net.
authors.forename: Kemal Ismail
authors.initials: KI
authors.lastname: Deen
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D005240:Feasibility Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012042:Registries; D012164:Retinal Diseases / Q000151:congenital / Q000175:diagnosis*; D055213:Retinal Pigment Epithelium / Q000002:abnormalities*; D066167:Slit Lamp; D055815:Young Adult