OPTIC DISC HAMARTOMA ASSOCIATED WITH RETINITIS PIGMENTOSA

Abstract

A sporadic case of optic disc hamartoma associated with retinitis pigmentosa (RP) is presented in a 19-year-old black man. There are only two previous reports in the English literature regarding this entity. Although disc hamartoma and RP can present independently, as an autosomal dominant trait, their existance together in one patient raises a question of common genetic defect.