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Results 1 - 6 of 6 for "Late-onset" retinal degeneration
  1. ... begins in late childhood or adolescence, and the late-onset form begins in early to mid-adulthood.Research suggests that the CLN3 gene mutations that cause CLN3-associated isolated retinal degeneration are less severe than those that cause CLN3 ...
  2. ... channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005 Oct;20:292-302. doi: ... activity of bestrophin mutants associated with mild or late-onset macular degeneration. Invest Ophthalmol Vis Sci. 2007 Oct;48(10): ...
  3. ... Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa ...
  4. ... the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of ... EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset ... age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19- ...
  5. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
  6. ... heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia. J Neurol. 2014 Dec;261(12):2411- ... Straumann D, Synofzik M. Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases ...