... gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. ... RAB28 RAX2 RIMS1 RPGRIP1 SEMA4A TTLL5 TULP1 UNC119 Cone-rod dystrophy is usually inherited in an autosomal recessive pattern, which means both copies of the gene ...

... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 RPE65_HUMAN sRPE65 ...

... for 30 to 60 percent of cases of cone-rod dystrophy that are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder.Most of the ABCA4 ... cone-rod dystrophy change single protein building blocks (amino acids) in ...

... 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 ...

... Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis ...

... Rarely, mutations in the RHO gene cause autosomal recessive retinitis pigmentosa. However, this form of the disorder usually results ...

... Iseri SA, Durlu YK, Tolun A. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J ...

... DELXp11.3 KIAA0215 NM23-H10 NME10 protein XRP2 retinitis pigmentosa 2 (X-linked recessive) TBCCD2 XRP2 XRP2_HUMAN Tests of RP2 PubMed ...

... retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 ...

... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; ... M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002 ...