| 1 | CSRD, RP20, RPE65
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| In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.
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| Samardzija M, Tanimoto N, Kostic C, Beck S, Oberhauser V, Joly S, Thiersch M, Fahl E, Arsenijevic Y, von Lintig J, Wenzel A, Seeliger MW, Grimm C.
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| Hum Mol Genet. 18(7):1266-75. 2009
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| 2 | CSRD, LCA2, RP20, RPE65
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| R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
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| Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, RemŽ CE, Seeliger M, Grimm C, Wenzel A.
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| Hum Mol Genet 17(2):281-92. Epub 2007 Oct 12. 2008
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| 3 | LCA2, RP20, RPE65
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| Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
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| Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP.
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| Proc Natl Acad Sci U S A 95(6):3088-93. 1998
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| 4 | RP20, RPE65
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| Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
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| Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, Hamel CP.
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| Eur J Hum Genet 6(5):527-31. 1998
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| 5 | RP20, RPE65
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| Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
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| Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A.
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| Nat Genet 17(2):194-7. 1997
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