Ocular Manifestations

Pigmented ocular fundus lesions (POFLs) can be found in the majority of FAP patients [133]. They resemble congenital hypertrophy of the retinal pigment epithelium (CHRPE), an isolated patch that lacks an association with polyposis [134]. Since lesions in FAP are more variable in appearance, they have been termed POFL [133]. The POFLs in FAP are characterized as hamartomas of the retinal pigment epithelium based on histopathologic studies [135]. POFLs are multiple and bilateral, and may vary in size. The most common ophthalmoscopic features include small, flat, round, and hyperpigmented lesions that do not increase in number or size with age.

The presence of multiple POFLs is a specific and reliable clinical marker of FAP with extra-colonic manifestations [136]. POFLs are congenital, and can be detected using a simple dilated fundus examination, and as such they may be useful for the screening of affected families. Unfortunately, they are only present in approximately 70% of patients with FAP, making them a specific but relatively insensitive marker of the disease.

Phenotype-genotype correlation studies have demonstrated association of POFL-positive pheno-type with mutation of the APC gene after exon 9, or deletion of the whole APC gene [137]. Uncommon ocular lesions in Gardner syndrome include orbital osteomas and soft tissue tumors of the brows or eyelids [133].

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