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retinoschisis/hearing loss
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3 results
A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
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A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model offers a useful
Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.
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In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity.
Norrie's disease.
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Norrie's disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of
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