Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome

Abstract

Congenital hypertrophy of the retinal pigment epithelium was seen in three affected members of a kindred with Gardner's syndrome. The latter consists of a triad of many intestinal polyps, hard-tissue abnormalities, and soft-tissue abnormalities. Although the appearance of the individual lesions in our patients was typical of hypertrophy of the retinal pigment epithelium, the following atypical features were present: multiple lesions per eye; bilateral occurrence; familial transmission; and association with systemic disease. Ophthalmoscopic examination can help identify children who are at risk of developing polyposis and carcinoma of the colon. In some instances, Gardner's syndrome may be diagnosed in a patient and his family as a result of observing the fundus lesions.