Congenital hypertrophy of the RPE related to familial adenomatous polyposis

    loading  Checking for direct PDF access through Ovid



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.


Histologically the lesions are made of one or several layers of pigmented hypertrophic epithelial cells.


familial adenomatous polyposis is linked to a germinal mutation of the APC gene which is localized on the long arm of chromosome 5.

Related Topics

    loading  Loading Related Articles