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"Late-onset" retinal degeneration
- ... 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 ...
- ... 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): ...
- ... Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa ...
- ... 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- ...
- Lipid Storage Diseases (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
- ... 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 ...