Corpus ID: 70852782

Congenital Hypertrophy of the Retinal Pigment Epithelium as Biomarker for Familial Adenomatous Polyposis

@article{Cetiner1991CongenitalHO,
  title={Congenital Hypertrophy of the Retinal Pigment Epithelium as Biomarker for Familial Adenomatous Polyposis},
  author={D. Cetiner and D. Şen and S. Devecioğlu},
  journal={Turkiye Klinikleri Journal of Gastroenterohepatology},
  year={1991},
  volume={2},
  pages={19-23}
}
Ten patients were investigated for congenital hy­ pertrophy of the retinal pigment epithelium (CHRPE) as a biomarker for FAP. Of these, three had a colon cancer and FAP, seven were first-degree relatives of one of them. Three patients with colon cancer have been found FAP endoscopicly. Three of four offspring at risk showed CHRPE. None of them had extracolonic manifestations. The youngest offspring at risk show­ ing CHRPE was aged 4. 

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