Article

Gene Therapy Reforms Photoreceptor Structure and Restores Vision in <i>NPHP5</i> -associated Leber Congenital Amaurosis

2020-10-08

Abstract excerpt

The inherited childhood blindness caused by mutations in NPHP5 , a form of Leber congenital amaurosis, results in abnormal development, dysfunction and degeneration of photoreceptors. A naturally occurring NPHP5 mutation in dogs results in a phenotype that very nearly duplicates the human retinopathy in terms of the photoreceptors involved, spatial distribution of degeneration and the natural history of vision l...

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Literature Corpus work: 48f33238-9025-58dc-90b5-d65d59fa4d41
DOI: 10.1101/2020.10.07.329821

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