Ocular manifestations in Proteus syndrome

We report on the ocular manifestations of a Proteus syndrome patient. Several of the manifestations are due to severe maldevelopment and malfunction of the neuroretina including strabismus, nystagmus, high myopia, and retinal pigmentary abnormalities. In reviewing the literature, strabismus and epib...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 92; no. 5; p. 350
Main Authors De Becker, I, Gajda, D J, Gilbert-Barness, E, Cohen, Jr, M M
Format Journal Article
LanguageEnglish
Published United States 19.06.2000
Subjects
Child, Preschool
Eye Abnormalities - pathology
Humans
Infant
Proteus Syndrome - pathology
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Summary:We report on the ocular manifestations of a Proteus syndrome patient. Several of the manifestations are due to severe maldevelopment and malfunction of the neuroretina including strabismus, nystagmus, high myopia, and retinal pigmentary abnormalities. In reviewing the literature, strabismus and epibulbar tumors were recorded most commonly. Some articles about presumed Proteus syndrome are spurious; these have not been included here. Also, because of anecdotal and nonsystematic study of the eye and because of the ascertainment bias inherent in literature reports, numbers of cases of each ocular manifestation have not been tabulated.
ISSN:0148-7299
DOI:10.1002/1096-8628(20000619)92:5<350::AID-AJMG11>3.0.CO;2-O