Article

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia

2026-01-11

Abstract excerpt

Familial dysautonomia (FD) is an autosomal recessive sensory and autonomic neurodevelopmental and degenerative disorder characterized by complex neurological phenotypes. One of its most debilitating features is progressive optic neuropathy, which leads to severe visual impairment in FD patients by the third decade of life. Although several preclinical approaches have shown partial rescue of retinal ganglion cell (...

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Literature Corpus work: 69404273-7eb0-5920-9d4c-707c171c8e7a
DOI: 10.64898/2026.01.09.698339

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