Article
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Human molecular genetics - 1 Oct 2016
Downs Louise M, Scott Erin M, Cideciyan Artur V, Iwabe Simone, Dufour Valerie, Gardiner Kristin L, Genini Sem, Marinho Luis Felipe, Sumaroka Alexander, Kosyk Mychajlo S, Swider Malgorzata, Aguirre Geoffrey K, Jacobson Samuel G, Beltran William A, Aguirre Gustavo D
Abstract excerpt
Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the...
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