Usher Syndrome [Elektronisk resurs]

• Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH. 

Ämnesord

Medical and Health Sciences  (hsv)

Clinical Medicine  (hsv)

Otorhinolaryngology  (hsv)

Medicin och hälsovetenskap  (hsv)

Klinisk medicin  (hsv)

Oto-rino-laryngologi  (hsv)

Genetik  (oru)

Genetics  (oru)

Medical Genetics  (oru)

Medicinsk genetik  (oru)

Oto-rhino-laryngologi  (oru)

Oto-Rhino-Laryngology  (oru)

Genre

government publication  (marcgt)

Indexterm och SAB-rubrik

Usher syndrome

genetic hearing loss

ciliopathies

Ushers syndrom

genetisk hörselnedsättning

ciliopatier