title: [Congenital hypertrophy of retinal pigment epithelium in familial colonic polyposis. Study of a family].
abstract: In the last years the relationship between congenital hypertrophy of retinal pigment epithelium (CHPRE) and familial adenomatous polyposis (FAP) has been described. It has been said that ophthalmoscopy would be a good screening method for following up the relatives of patients with FAP. We present an ophthalmoscopic study of 14 member of a family with FAP. Four members with FAP were operated on in our department. Only a six years-old child, to this date without FAP, presented CHPRE. We review the relationship between FAP and CHPRE, and emphasize the importance of follow-up in FAP specially when CHPRE is present.
authors.affiliation: Servicio de Cirugía General y Aparato Digestivo A, Hospital Universitario 12 de Octubre, Madrid.
authors.forename: J M
authors.initials: JM
authors.lastname: Ramia Angel
authors.forename: M
authors.initials: M
authors.lastname: Montero Rodríguez
authors.forename: C
authors.initials: C
authors.lastname: Ramírez Fe
authors.forename: D
authors.initials: D
authors.lastname: Sáenz Regalado
authors.forename: R
authors.initials: R
authors.lastname: Villeta Plaza
authors.forename: J
authors.initials: J
authors.lastname: Alcalde Escribano
authors.forename: C
authors.initials: C
authors.lastname: Morales Gutiérrez
authors.forename: A
authors.initials: A
authors.lastname: Abad Barahona
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000150:complications* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006984:Hypertrophy / Q000151:congenital; D008297:Male; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*
vernacular_title: Hipertrofia congénita del epitelio pigmentario de la retina en la poliposis colónica familiar. Estudio de una familia.