Article
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Human molecular genetics - 1 Jul 2018
Choi Elliot H, Suh Susie, Sander Christopher L, Hernandez Christian J Ortiz, Bulman Elizabeth R, Khadka Nimesh, Dong Zhiqian, Shi Wuxian, Palczewski Krzysztof, Kiser Philip D
Abstract excerpt
RPE65 is the essential trans-cis isomerase of the classical retinoid (visual) cycle. Mutations in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of protein function and recessive inheritance. The only known exception is a c.1430G>A (D477G) mutation that gives rise to dominant retinitis pigmentosa with delayed onset and choroidal and macular involvement. Position 477 is...
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