Usher syndrome: Genetic diagnosis and current therapeutic approaches
Beatriz Rocha Cuzzuol,
Jonathan Santos Apolonio,
Ronaldo Teixeira da Silva Júnior
et al.
Abstract:Usher Syndrome (USH) is the most common deaf-blind syndrome, affecting approximately 1 in 6000 people in the deaf population. This genetic condition is characterized by a combination of hearing loss (HL), retinitis pigmentosa, and, in some cases, vestibular areflexia. Among the subtypes of USH, USH type 1 is considered the most severe form, presenting profound bilateral congenital deafness, vestibular areflexia, and early onset RP. USH type 2 is the most common form, exhibiting congenital moderate to severe HL… Show more
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