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Congenital hypertrophy of the RPE related to familial adenomatous polyposis
Author(s) -
DESJARDINS L
Publication year - 2013
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2013.3243.x
Subject(s) - familial adenomatous polyposis , medicine , pathology , asymptomatic , adenomatous polyposis coli , fundus (uterus) , cancer , colorectal cancer , ophthalmology
Familial adenomatous polyposis is a rare condition found in 1/10000 births. Multiple bowel polyps can lead to bowel cancer if untreated. Multiple pigmented retinal lesions are present in 60 to 80% of patients with this condition. Clinical presentation and imaging: Fundus lesions are classified in five groups: ovals pigmented with halo, small pigmented round , large pigmented round, depigmented round and small hypopigmented. They can be grouped with a bear track aspect. The lesions are asymptomatic A total number of at least four lesions is considered a good marker of the disease. Angiographic aspect is only mask or window depending on the degree of pigmentation. Pathology: Histologically the lesions are made of one or several layers of pigmented hypertrophic epithelial cells. Genetic: familial adenomatous polyposis is linked to a germinal mutation of the APC gene which is localized on the long arm of chromosome 5.