Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a
combination of sensorineural hearing loss and a progressive loss of vision resulting from …

Background An emerging cavefish model, the cyprinid genus Sinocyclocheilus, is endemic
to the massive southwestern karst area adjacent to the Qinghai-Tibetan Plateau of China. In …

Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor
degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by …

Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal
disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we …

High throughput sequencing technologies have revolutionized the identification of mutations
responsible for a diverse set of Mendelian disorders, including inherited retinal disorders …

Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and
most of these splicing alterations have been identified by transcript analysis, for instance, the …

Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or
without congenital sensorineural hearing impairment. We studied genotype–phenotype …

Purpose Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in
gene-directed therapies highlight the importance of understanding the genetic basis of these …

Background Usher syndrome is an autosomal recessive disease that associates
sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction …