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Article

Gene Therapy Fully Restores Vision to the All-Cone Nrl −/− Gucy2e −/− Mouse Model of Leber Congenital Amaurosis-1

6 Aug 2015

Abstract excerpt

Mutations in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). GUCY2D encodes retinal guanylate cyclase-1 (retGC1), a protein expressed exclusively in outer segments of photoreceptors and essential for timely recovery from photoexcitation. Recent clinical data show that, despite a high degree of visual disturbance stemming from a loss of cone function, LCA1 patients retain normal photoreceptor...

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PMID: 26247368
DOI: 10.1089/hum.2015.053

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