Last Updated: 09/26/2026
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Found 4 publications
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.
Journal: PloS one
Published: January 26, 2014
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 24, 2013
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.
Journal: Investigative ophthalmology & visual science
Published: January 24, 2013
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
Journal: Human molecular genetics
Published: October 05, 2012
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Last Updated: 09/26/2026