Index Case of Familial Adenomatous Polyposis Revealed by Congenital Hypertrophy of the Retinal Pigment Epithelium
Authors: Robert L. Holmes, Saket K. Ambasht, Patrick S. Kelley
Journal: Annals of Internal Medicine (2005)

Letters18 October 2005Index Case of Familial Adenomatous Polyposis Revealed by Congenital Hypertrophy of the Retinal Pigment EpitheliumRobert L. Holmes, DO, Saket K. Ambasht, MD, and Patrick S. Kelley, MDRobert L. Holmes, DOFrom Keesler Medical Center, Keesler Air Force Base, MS 39554.Search for more papers by this author, Saket K. Ambasht, MDFrom Keesler Medical Center, Keesler Air Force Base, MS 39554.Search for more papers by this author, and Patrick S. Kelley, MDFrom Keesler Medical Center, Keesler Air Force Base, MS 39554.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-143-8-200510180-00026 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Background: Familial adenomatous polyposis and phenotypic variants, including the Gardner syndrome, are autosomal-dominant diseases resulting from germline mutation of the adenomatous polyposis coli (APC) gene. Congenital hypertrophy of the retinal pigment epithelium (CHRPE), a benign retinal lesion without visual sequelae, is estimated to be up to 94% sensitive in screening asymptomatic members of familial adenomatous polyposis kindreds exhibiting the CHRPE phenotype (1). Although CHRPE is not associated with other diseases, these lesions are too rare to be effective in screening unselected populations. Proctocolectomy halts the nearly universal risk for colorectal cancer, but patients require indefinite surveillance for ...References1. Tiret A, Taiel-Sartral M, Tiret E, Laroche L. Diagnostic value of fundus examination in familial adenomatous polyposis. Br J Ophthalmol. 1997;81:755-8. [PMID: 9422927] CrossrefMedlineGoogle Scholar2. Augsburger JJ, Bolling JP. Hypertrophy of retinal pigment epithelium.. In: Yanoff M, Duker JS, Augsberger JJ, Azar DT, Diamond GR, Dutton JJ, et al, eds. Ophthalmology. 2nd ed. Saint Louis, MO: Mosby; 2004:1095-6. Google Scholar3. Griffioen G, Bus PJ, Vasen HF, Verspaget HW, Lamers CB. Extracolonic manifestations of familial adenomatous polyposis: desmoid tumours, and upper gastrointestinal adenomas and carcinomas. Scand J Gastroenterol Suppl. 1998;225:85-91. [PMID: 9515758] CrossrefMedlineGoogle Scholar4. Cetta F, Montalto G, Gori M, Curia MC, Cama A, Olschwang S. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab. 2000;85:286-92. [PMID: 10634400] MedlineGoogle Scholar5. Janne PA, Mayer RJ. Chemoprevention of colorectal cancer. N Engl J Med. 2000;342:1960-8. [PMID: 10874065] CrossrefMedlineGoogle Scholar6. Mukherjee D, Nissen SE, Topol EJ. Risk of cardiovascular events associated with selective COX-2 inhibitors. JAMA. 2001;286:954-9. [PMID: 11509060] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From Keesler Medical Center, Keesler Air Force Base, MS 39554.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 18 October 2005Volume 143, Issue 8Page: 618-619KeywordsDrug interactionsDrugsEpitheliumGastrointestinal cancersLesionsPopulation statisticsThyroid carcinomaUltrasound imaging ePublished: 18 October 2005 Issue Published: 18 October 2005 CopyrightCopyright © 2005 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...