USH2A

USH2A gene, located on human chromosome 1, is a crucial gene encoding the Usherin protein, which plays a pivotal structural and functional role in the retina and cochlea. Mutations in the USH2A gene are the primary cause of Usher syndrome type II, accounting for a majority of cases, and are also associated with non-syndromic retinal diseases. These mutations lead to abnormalities in the Usherin protein, affecting normal signal transmission and intercellular adhesion in retinal and cochlear cells, ultimately triggering retinal degeneration and hearing loss. Hearing loss in patients with USH2A gene mutations typically manifests during childhood, exhibiting a progressive decline and potentially accompanied by potential damage to vestibular function.