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Autosomal recessive retinitis pigmentosa
- ... TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis ...
- ... 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought ... parent and other family members with the disorder.Retinitis pigmentosa can also have an autosomal recessive pattern of inheritance, which means both copies of ...
- ... Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci ...
- ... disorder. Rarely, mutations in the RHO gene cause autosomal recessive retinitis pigmentosa. However, this form of the disorder usually results ...
- ... ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...
- ... include nearsightedness as a feature. These conditions include autosomal recessive congenital stationary night blindness, X-linked congenital stationary night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Retinitis pigmentosa with erythrocytic microcytosis RPEM Sideroblastic anemia with B- ...
- ... the inner ear.DFNB2 is inherited in an autosomal recessive pattern, which means ... pigmentosa (a vision disorder characteristic of Usher syndrome) later ...
- ... types of Usher syndrome are inherited in an autosomal recessive pattern, which means both copies ... pigmentosa syndrome Graefe-Usher syndrome Hallgren syndrome Retinitis pigmentosa- ...
- ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. ... disorder with muscle contractions resembling neonatal tetanus, characteristic ...