HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis.

Abstract
Ophthalmic examinations were performed on 56 patients with validated familial adenomatous polyposis (FAP) for hyperpigmented defects of the retinal pigment epithelium. Such lesions were seen bilaterally in 29 patients (52%) and unilaterally in 8 patients (14%). Of the 56 patients, 33 had one or more of the extracolonic expressions associated with Gardner syndrome. We found retinal lesions in 8 patients without any of the expressions of Gardner syndrome. No association was found between Gardner syndrome and the retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions. The presence or absence of eye findings were seen to cluster within families. There was no association with sex. Fundus lesions are apparently a variable expression of the FAP gene and are not specifically associated with Gardner syndrome.
AuthorsR H Baker, M H Heinemann, H H Miller, J J DeCosse
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 31 Issue 2 Pg. 427-35 (Oct 1988) ISSN: 0148-7299 [Print] UNITED STATES
PMID2852900 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Retinal Pigments
Topics
  • Adenomatous Polyposis Coli (genetics, pathology)
  • Adult
  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pigment Epithelium of Eye (pathology)
  • Retinal Pigments (analysis)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: