Usher Syndrome

Jatana, Kris R.; Thomas, Damon; Weber, Lisa; Mets, Marilyn B.; Silverman, Josh B.; Young, Nancy M.

doi:10.1097/mao.0b013e3182877ef2

Cited by 36 publications

(21 citation statements)

References 18 publications

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“…There is currently no cure for Usher syndrome. Standard management typically involves monitoring complications of RP and providing assistive hearing devices such as hearing aids or cochlear implants 40 . However, after previous demonstration of safety and efficacy in macaques, clinical trials for Usher syndrome type IB are underway that involve subretinal administration of UshStat® (EIAV-CMV- MYO7A ) (NCT01505062) 41 .…”

Section: Discussionmentioning

confidence: 99%

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Sengillo

Cabral

Schuerch

et al. 2017

Sci Rep

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Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function. There was a tendency for Usher syndrome patients to have a higher distribution of severe mutations, and alleles in this group had a higher odds of containing nonsense or frame-shift mutations. These data suggest that the previously reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater extent of cone dysfunction. Additionally, a genetic threshold may exist where mutation burden relates to visual phenotype and the presence of hearing deficits. The auditory phenotype and allelic hierarchy observed among patients should be considered in prospective studies of disease progression and during enrollment for future clinical trials.

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Section: Discussionmentioning

confidence: 99%

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Sengillo

Cabral

Schuerch

et al. 2017

Sci Rep

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“…A multisite study of children receiving CIs from 1991 to 2010 identified 712 children; 26 (3.7%) of these children also had Usher syndrome type 1. 65 Mean time to follow-up was 7.8 (1–16) years. Speech perception outcomes for those with Usher syndrome indicated that 92% were able to achieve some level of open-set speech perception on age-appropriate tests and over half of these children were also oral communicators.…”

Section: Usher Syndromementioning

confidence: 99%

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes

Cejas

Hoffman

Quittner

2015

PHMT

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The number of children with hearing loss with additional disabilities receiving cochlear implantation has increased dramatically over the past decade. However, little is known about their auditory and speech and language development following implantation. The purpose of this review is to evaluate the effects of cochlear implantation on the most common genetic and developmental disorders in children with hearing loss. Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. Our review indicates that children with hearing loss and additional disabilities benefit from cochlear implantation, especially when implanted early. Thus, early interventions seem as important for these children as for deaf children without additional disabilities. Comparisons of outcomes across these disabilities indicate that children with little to no cognitive impairment (eg, Waardenburg sydrome, attention deficit hyperactivity disorder) have better outcomes than those with greater deficits in intellectual functioning (eg, autism, CHARGE syndrome). In addition, parents of children with hearing loss and additional disabilities report higher levels of parenting stress and greater child behavior problems than those without comorbid diagnoses. However, these parents are as sensitive when interacting with their children as parents with typically developing children using cochlear implantation. Given these results, it is critical to evaluate these children’s developmental milestones to provide early implantation and intervention, appropriately counsel families regarding realistic expectations for the implant, and facilitate family adaptation.

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“…The costs of implants restoring vision are perhaps even higher. According to previous studies, a CI is an effective treatment in cases of deafblind patients with Usher syndrome (OMIM#276900) in terms of quality of life, verbal communication skills, and cognitive function [ 48 , 49 , 50 , 51 , 52 ]. The reports of the beneficial effects of CIs have also changed the practice of reimbursement, and a second CI could be reimbursed in adults in extraordinary cases.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness

Tekın

Baelen

Heuninck

et al. 2023

Genes

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Cochlear implantation (CI) for deafblindness may have more impact than for non-syndromic hearing loss. Deafblind patients have a double handicap in a society that is more and more empowered by fast communication. CI is a remedy for deafness, but requires revision surgery every 20 to 25 years, and thus placement should be minimally invasive. Furthermore, failed reimplantation surgery will have more impact on a deafblind person. In this context, we assessed the safety of minimally invasive robotically assisted cochlear implant surgery (RACIS) for the first time in a deafblind patient. Standard pure tone audiometry and speech audiometry were performed in a patient with deafblindness as part of this robotic-assisted CI study before and after surgery. This patient, with an optic atrophy 1 (OPA1) (OMIM#165500) mutation consented to RACIS for the second (contralateral) CI. The applicability and safety of RACIS were evaluated as well as her subjective opinion on her disability. RACIS was uneventful with successful surgical and auditory outcomes in this case of deafblindness due to the OPA1 mutation. RACIS appears to be a safe and beneficial intervention to increase communication skills in the cases of deafblindness due to an OPA1 mutation. The use of RACIS use should be widespread in deafblindness as it minimizes surgical trauma and possible failures.

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Usher Syndrome

Cited by 36 publications

References 18 publications

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Outcomes and benefits of pediatric cochlear implantation in children with additional disabilities: a review and report of family influences on outcomes

Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness

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