TY - JOUR
T1 - Ocular manifestations in Proteus syndrome
AU - De Becker, Inge
AU - Gajda, David J.
AU - Gilbert-Barness, Enid
AU - Cohen, M. Michael
PY - 2000/6/19
Y1 - 2000/6/19
N2 - 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. (C) 2000 Wiley-Liss, Inc.
AB - 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. (C) 2000 Wiley-Liss, Inc.
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U2 - 10.1002/1096-8628(20000619)92:5<350::AID-AJMG11>3.0.CO;2-O
DO - 10.1002/1096-8628(20000619)92:5<350::AID-AJMG11>3.0.CO;2-O
M3 - Article
C2 - 10861666
AN - SCOPUS:0034686377
SN - 0148-7299
VL - 92
SP - 350
EP - 352
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -