Retinal pigment epithelial lesions associated with a sporadic case of familial adenomatous polyposis

Conclusion: The pigmented retinal pigment epithelium lesions of FAP have a characteristic appearance and it is vital for the retinal specialist to be familiar with them. De novo mutations in the APC gene are responsible for 20% to 30% of FAP cases. In the presence of the characteristic retinal pigment epithelium lesions, it is important to send the patient for work up of FAP even in the absence of family history of FAP.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research