Abstract
We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.
MeSH terms
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Adult
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Dandy-Walker Syndrome / complications*
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Dandy-Walker Syndrome / diagnosis
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Dandy-Walker Syndrome / genetics
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Eye Abnormalities / complications*
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Eye Abnormalities / diagnosis
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Female
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Gait Ataxia / complications*
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Gait Ataxia / diagnosis
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Gait Ataxia / genetics
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Humans
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Magnetic Resonance Imaging
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Male
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Myopia, Degenerative / complications*
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Myopia, Degenerative / diagnosis
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Myopia, Degenerative / genetics
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Nystagmus, Pathologic / complications*
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Nystagmus, Pathologic / diagnosis
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Nystagmus, Pathologic / genetics
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Retina / abnormalities*
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Siblings