Congenital hypertrophy of the retinal pigment epithelium and familial adenomatous polyposis

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Abstract

Familial adenomatous polyposis (FAP) is a dominant, autosomically-transmitted disease, meaning that first-degree relatives of an affected subject have 50% probability of manifesting the illness. If untreated, the disease leads, in virtually all affected individuals, to development of colorectal adenocarcinoma. It has been proven that a large proportion (60-80%) of affected subjects shows, at ophthalmoscopy, the presence of pigmented retinal lesions (CHRPE). The role that must be attributed to this marker is still not clear. The main question which has yet to be answered to is: if an unaffected first-degree relative of a patient shows typical CHRPE, must he be considered to have a higher than 50% risk of developing FAP? And vice versa: if an unaffected first-degree relative of a patient does not show the CHRPE, must he be considered to have a lower than 50% risk of developing FAP? Although CHRPE can be very different in shape and size, it is possible to identify four different patterns: 1) small depigmented areas, usually in the mid-periphery; 2) small pigmented areas, usually in the mid-periphery; 3) splinter-shaped elongated areas with zones of depigmentation and/or hyperpigmentation; 4) larger round or ovoid hyperpigmented lesions, frequently associated with a depigmented halo, and located near the vascular arcades. Ophthalmologists must be familiar with the different ophthalmoscopic patterns of CHRPE both in order to help surgeons who are asking for a consultation and to call for a surgical evaluation of patients in whom typical fundus pigmented lesions are randomly found.

Original languageEnglish
Pages (from-to)141-145
Number of pages5
JournalItalian Journal of Ophthalmology
Volume7
Issue number3
Publication statusPublished - 1993

Keywords

  • congenital hypertrophy of the retinal pigment epithelium
  • familial adenomatous polyposis

ASJC Scopus subject areas

  • Ophthalmology

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