title: Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, China.
authors.forename: D S
authors.initials: DS
authors.lastname: Lam
authors.forename: S P
authors.initials: SP
authors.lastname: Kwok
authors.forename: A K
authors.initials: AK
authors.lastname: Kwok
authors.forename: C T
authors.initials: CT
authors.lastname: Liew
authors.forename: J W
authors.initials: JW
authors.lastname: Lau
authors.forename: C C
authors.initials: CC
authors.lastname: Pang
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China / Q000453:epidemiology; D002895:Chromosomes, Human, Pair 5; D005128:Eye Diseases / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D016147:Genes, Tumor Suppressor; D006801:Humans; D006984:Hypertrophy; D015994:Incidence; D008297:Male; D009154:Mutation; D010857:Pigment Epithelium of Eye / Q000473:pathology*