![]() ![]() This includes the use of hearing aids, assistive listening devices, cochlear implants, mobility training, and low vision services. TreatmentĬurrent treatment focuses on helping an individual to adapt to hearing and vision loss and to maximising the vision and hearing that they do have. Usher syndrome occurs equally in both genders and is always inherited in a recessive pattern, meaning that both a person’s copies of the gene must be faulty for the condition to occur. So far, researchers have found 11 genes that are associated with the three main subtypes of the syndrome. Usher syndrome occurs when there are mutations in genes that are important for the function of the photoreceptors in the retina and the sound-sensing “hair cells” in the cochlea, or inner ear. The prevalence of Usher syndrome varies from country to country, but it is a rare condition affecting approximately 1 in 10,000 people. Hearing at birth is usually normal but is lost during late childhood and becomes worse over time, with sight beginning to deteriorate during adolescence. Usher type 3 is very rare and is generally found in people with their family origins in Finland. Sight loss usually becomes apparent during the teenage years. People with Usher type 2 also experience early onset hearing loss but this is less severe than in type 1. Balance is often affected in those with type 1 and can slow the development of sitting or walking. The deafness is generally so early in onset and so severe that hearing aids may not be of value, although cochlear implants may be beneficial. People with Usher type 1 develop profound deafness from birth and sight loss becomes evident in early childhood. Sight loss follows a similar pattern to non-syndromic retinitis pigmentosa early symptoms include night blindness and reduced peripheral vision, with central vision loss occurring later. Hearing loss is the first symptom to become apparent, usually from birth. There are three different clinical types of Usher syndrome, type 1, type 2, and type 3. Recordings and resources Expand dropdown.Joining the research effort Expand dropdown.Information and support services Expand dropdown.About inherited sight loss Expand dropdown.The UK Inherited Retinal Dystrophy Consortium.on behalf of the Asia-Pacific Academy of Ophthalmology. We review animal cell-derived and patient cell-derived models currently used in USH2A research and conclude with an overview of potential treatment strategies currently in preclinical development and clinical trials.Ĭopyright © 2022 Asia-Pacific Academy of Ophthalmology. The role of these proteins in the inner ear and retina and their impact on the pathogenesis of USH2A is discussed. In this review, we first provide an overview of the molecular biology of the USH2A gene and its protein isoforms, which include a transmembrane protein (TM usherin) and an extracellular protein (EC usherin). Although hearing aids or cochlear implants can provide some mitigation of hearing deficits, there are currently no treatments aimed at preventing or restoring vision loss in USH2A patients. USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of life and variable vestibular involvement. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mutations in the USH2A gene and accounts for around half of all USH cases. Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. ![]()
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