Ocular manifestations in Proteus syndrome

We report on the ocular manifestations of a Proteus syndrome patient. Sever al of the manifestations are due to severe maldevelopment and malfunction o f the neuroretina including strabismus, nystagmus, high myopia, and retinal pigmentary abnormalities. In reviewing the literature, strabismus and epib ulbar tumors were recorded most commonly. Some articles about presumed Prot eus syndrome are spurious; these have not been included here. Also, because of anecdotal and nonsystematic study of the eye and because of the ascerta inment bias inherent in literature reports, numbers of cases of each ocular manifestation have not been tabulated. Am. J. Med. Genet. 92:350-352, 2000 . (C) 2000 Wiley-Liss, Inc.