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Retinal degeneration
- ... spastic paraplegia 15 Kjellin syndrome Spastic paraplegia and retinal degeneration SPG15 Genetic Testing Registry: Hereditary spastic paraplegia Genetic ...
- ... In other people with Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some vision is retained ... atypical retinitis pigmentosa without pigment" to describe the retinal degeneration that occurs in Mainzer-Saldino syndrome.The skeletal ...
- ... gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes the hearing loss, ... Mathur P, Yang J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015 Mar; ...
- ... only one mutated copy of the gene develop retinal degeneration and associated vision loss. In most cases, males ...
- ... Giudice EM. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inherit ...
- ... sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, ...
- ... tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. Eur J Hum Genet. 2012 ...
- ... Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa ...
- ... sensitive tissue at the back of the eye (retinal degeneration), which worsens with age. People with CLN3 disease ...
- ... gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of ... rod degeneration Cone-rod retinal dystrophy CORD CRD Retinal cone-rod dystrophy Tapetoretinal degeneration Genetic Testing Registry: Cone-rod dystrophy 1 Genetic ...