Congenital hypertrophy of the RPE related to familial adenomatous polyposis

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Abstract

Introduction:

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.

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