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"Cone-rod" dystrophy hearing loss 2
- ... caused by abnormalities of the inner ear (sensorineural hearing loss), recurrent ... pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
- ... Usher syndrome type IIA, while other mutations cause retinitis pigmentosa without hearing loss. More About This Health Condition US2 USH2 USH2A_ ...
- ... some individuals who were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ...
- ... Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med ...
- ... By middle age, most affected individuals have profound hearing loss. Vision loss caused by retinitis pigmentosa also develops in late childhood or adolescence. Some ...
- ... characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic ...
- ... development and function of stereocilia, which leads to hearing loss and difficulty with balance and coordination. A lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
- ... of a spectrum of overlapping features rather than two distinct syndromes. NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos Genetic Testing Registry: ...
- ... are associated with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. These mutations can occur in at least two mitochondrial genes: MT-RNR1 and MT-TS1.The ...
- ... joints.Children with Saul-Wilson syndrome often have hearing loss, clouding of the lenses of the eyes (cataracts), or a blue tint to the whites of the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...