Ocular findings in Turcot syndrome (glioma-polyposis).

Abstract

Turcot syndrome is a hereditary condition characterized by multiple, adenomatous gastrointestinal polyps associated with neuroepithelial tumors of the central nervous system. The authors examined a patient with Turcot syndrome who had multiple regions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) with areas of surrounding hypopigmentation in the fundi of both eyes. Multiple, bilateral patches of CHRPE have been reported in patients with familial adenomatous polyposis and Gardner syndrome. This finding is thought to be a sensitive and specific clinical marker for these conditions and useful for predicting the presence and development of colorectal polyposis. Our findings provide further evidence that familial adenomatous polyposis, Gardner syndrome, and Turcot syndrome may be related conditions representing the variable phenotypic expression of a single, autosomal dominant genetic disorder. Children and young adults with multiple patches of CHRPE and a family history of adenomatous polyposis may be at increased risk for the development of central nervous system tumors as well as gastrointestinal polyps.