Published Paper Details:

Usher syndrome (USH) stands out as the predominant hereditary condition leading to concurrent impairment of both hearing and vision. In certain instances, individuals affected by ush also experience balance irregularities and bilateral vestibular areflexia. Initially documented by Albrecht von Graefe in 1858, the syndrome earned its moniker from charles usher, wh o extensively presented cases exhibiting a combination of hearing loss and retinopathy in 1914. Ush is clinically categorized into three primary types, denoted as 1, 2, and 3. These variations arise from mutations in distinct genes and further subdivide into specific subtypes. Currently, a total of nine causative genes have been unequivocally identified as contributors to the syndrome when undergoing mutation: MYO7A, USH 1C, CDH23, PCDH15, and USH 1g (sans) for Usher type 1; USH 2A, ADGRV1, and when for Usher type 2; CLRN1 for Usher type 3. The inheritance pattern of USH follows an autosomal recessive trait. This comprehensive review delves into the causative forms, diagnostic approaches, prognostic considerations, ongoing research, and emerging treatments in the realm of USH.