Abstract
Mowat-Wilson syndrome is a genetic disorder characterized by a distinct facial appearance, moderate-to-severe mental retardation, microcephaly, agenesis of the corpus callosum, Hirschsprung disease, congenital heart disease, and genital anomalies. Ophthalmological abnormalities have been rarely described in patients with this condition which is caused by mutations in the ZEB2 gene. We report a 9-year-old female with this syndrome who has severe ocular abnormalities including bilateral microphthalmia, cataract, and retinal aplasia.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Child
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Choroid / abnormalities
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Coloboma / genetics
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Eye Abnormalities / diagnosis
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Eye Abnormalities / genetics*
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Facies
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Female
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Hirschsprung Disease / diagnosis
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Hirschsprung Disease / genetics*
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Homeodomain Proteins / genetics*
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Mutation*
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Optic Nerve / abnormalities
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Polymerase Chain Reaction
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Repressor Proteins / genetics*
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Retina / abnormalities
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Zinc Finger E-box Binding Homeobox 2
Substances
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Homeodomain Proteins
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Repressor Proteins
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ZEB2 protein, human
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Zinc Finger E-box Binding Homeobox 2