[Ocular changes in Gardner syndrome]

In hereditary adenomatosis of the large bowel (familial polyposis) extraintestinal manifestations of the disease are common: hyperostosis, dental anomalies, soft tissue tumours, desmoid tumours etc. Patients with marked extracolic signs are described as patients with Gardner's syndrome. Recently a further sign is described--foci of congenital hypertrophy of the pigmented retinal epithelium. The authors examined 22 patients with confirmed hereditary adenomatosis (Gardner's syndrome). The typical finding of pigmented foci on the fundus was recorded in 18 subjects (82%) incl. 9 subjects (50%) where the finding was bilateral. The authors examined also 25 children of these patients. In those a positive finding was recorded in 11 (44%). Ophthalmological examination can contribute in a significant way to detection of an asymptomatic subject with hereditary adenomatosis, in particular when seeking risk patients in an affected family. Evaluation of ophthalmological changes can also contribute to the solution of some special genetic problems of this disease.