Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Journal
Current opinion in ophthalmology
ISSN: 1531-7021
Titre abrégé: Curr Opin Ophthalmol
Pays: United States
ID NLM: 9011108
Informations de publication
Date de publication:
01 Nov 2021
01 Nov 2021
Historique:
pubmed:
31
8
2021
medline:
16
10
2021
entrez:
30
8
2021
Statut:
ppublish
Résumé
To illustrate retinal pigment epithelium hamartomas (RPEHs) in a patient with known Turcot syndrome and to demonstrate the significance of these lesions in other colonic polyposis syndromes. The presence of multiple, bilateral RPEHs is a specific marker for familial adenomatous polyposis (FAP). Recent studies have noted RPEHs in associated syndromes including Gardner and Turcot syndromes. Herein, we illustrate an 18-year-old male patient with known brain medulloblastoma who was documented 7 years later to have asymptomatic RPEHs in both eyes, demonstrating hypo-autofluorescence. This patient with previous medulloblastoma and known Turcot syndrome was later found to have typical RPEHs, a feature that is important in family screening. Confirmation of RPEHs related to Turcot syndrome was made, and genetic evaluation confirmed germline mutation in the adenomatous polyposis coli (APC) gene. Observation was advised. Due to the fairly rapid progression to colorectal cancer if untreated, ophthalmologists should be aware that RPEHs can be the first extracolonic manifestation of FAP, Gardner syndrome, and Turcot syndrome.
Identifiants
pubmed: 34456292
doi: 10.1097/ICU.0000000000000798
pii: 00055735-202111000-00012
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
567-573Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
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