TY - JOUR
T1 - Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies
AU - Duvall, J.
AU - Miller, S. L.
AU - Cheatle, E.
AU - Tso, M. O.M.
N1 - Funding Information:
From the Department of Ophthalmology (Drs. Duvall and Tso), University of Illinois at Chicago, and the Departments of Pediatrics (Dr. Miller) and Pathology (Dr. Cheatle), Southern Illinois University School of Medicine, Springfield, Illinois. This study was supported in part by research grant EY 01903, training grant EY 7038, and core grant IP30 EY 01792 from the National Institutes of Health. Dr. Duvall was supported by a research fellowship grant by the Smith and Nephew Foundation, London, England.
PY - 1987
Y1 - 1987
N2 - We examined a 5-month-old boy who had an iris coloboma in the left eye, persistent hyaloid artery, macular hypoplasia, left aberrant nerve palsy, and bilateral blepharoptosis. He had microcephaly and bilateral corticospinal tract dysfunction. Additionally, he had brachycephaly, a high arched palate, hypoplasis, a malformed left external ear, and bilateral finger contractures. Computed tomography showed agenesis of the corpus callosum. He died at age 5 months. On histologic examination the left eye showed an iris coloboma, ciliary epithelial differentiation to the retina, undifferentiated neuroepithelium beneath the equatorial retina, persistent hyaloid artery, and optic nerve coloboma and pit. These findings may result from failure of the fetal fissure of the optic cup to close, with redundant folds of neuroepithelium and focal aberrant differentiation. The constellation of developmental defects indicates that an insult occurred during the sixth week of gestation.
AB - We examined a 5-month-old boy who had an iris coloboma in the left eye, persistent hyaloid artery, macular hypoplasia, left aberrant nerve palsy, and bilateral blepharoptosis. He had microcephaly and bilateral corticospinal tract dysfunction. Additionally, he had brachycephaly, a high arched palate, hypoplasis, a malformed left external ear, and bilateral finger contractures. Computed tomography showed agenesis of the corpus callosum. He died at age 5 months. On histologic examination the left eye showed an iris coloboma, ciliary epithelial differentiation to the retina, undifferentiated neuroepithelium beneath the equatorial retina, persistent hyaloid artery, and optic nerve coloboma and pit. These findings may result from failure of the fetal fissure of the optic cup to close, with redundant folds of neuroepithelium and focal aberrant differentiation. The constellation of developmental defects indicates that an insult occurred during the sixth week of gestation.
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U2 - 10.1016/s0002-9394(14)74333-8
DO - 10.1016/s0002-9394(14)74333-8
M3 - Article
C2 - 3578469
AN - SCOPUS:0023275667
SN - 0002-9394
VL - 103
SP - 701
EP - 705
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 5 III
ER -