[Gardner syndrome: possibility of early detection of carriers by examination of the ocular fundus?].
Through indirect ophthalmoscopic examination it was possible to analyse three families originated from the same Swiss alpine valley (Poschiavo) and carrying Gardner syndrome (SdG) to check if their members with SdG were presenting hypertrophic changes of the retinal epithelium which is supposed to be an early symptom of that syndrome. This lesion was found to be present only in two out of 11 patients (18%) with at least one symptom of SdG. Because of its lacking sensitivity, ophthalmoscopic examination is not able to substitute colonoscopy as a valid screening method to find out which members of a SdG-family are at risk to develop colonic poliposis and cancer.
Brazzola
P
P
Reparto di chirurgia, Ospedale Civico, Lugano.
Vignanelli
M
M
Levy
C
C
Martinoli
S
S
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005736:Gardner Syndrome / Q000175:diagnosis / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D006801:Humans; D009887:Ophthalmoscopy; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012307:Risk Factors
Sindrome di Gardner: è possibile la scoperta precoce dei portatori con l'esame del fondo dell'occhio?