[Congenital hypertrophy of retinal pigment epithelium in familial colonic polyposis. Study of a family].
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.
Ramia Angel
J M
JM
Servicio de Cirugía General y Aparato Digestivo A, Hospital Universitario 12 de Octubre, Madrid.
Montero Rodríguez
M
M
Ramírez Fe
C
C
Sáenz Regalado
D
D
Villeta Plaza
R
R
Alcalde Escribano
J
J
Morales Gutiérrez
C
C
Abad Barahona
A
A
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*
Hipertrofia congénita del epitelio pigmentario de la retina en la poliposis colónica familiar. Estudio de una familia.