Research Article

Congenital hypertrophy of retinal pigment epithelium: a sign of familial adenomatous polyposis.

BMJ 1989; 298 doi: https://doi.org/10.1136/bmj.298.6670.353 (Published 11 February 1989) Cite this as: BMJ 1989;298:353
  1. P. D. Chapman,
  2. W. Church,
  3. J. Burn,
  4. A. Gunn
  1. Division of Human Genetics, University of Newcastle upon Tyne.

    Abstract

    Families of people known to have familial adenomatous polyposis are screened for signs of the disease by yearly examination of the bowel. Multiple areas of congenital hypertrophy of the retinal pigment epithelium have been described in patients with familial adenomatous polyposis. To assess the reliability of this marker 40 patients with familial adenomatous polyposis, representing all 25 pedigrees with living affected members in the Northern region's polyposis registry, were examined for hypertrophy of the retinal pigment epithelium. All had multiple lesions, ranging in number from two to over 40. None of the 35 controls had more than two lesions. Ocular examination is valuable for detecting carriers of the gene for familial adenomatous polyposis before their symptoms develop.