Pick Topic
Review Topic
List Experts
Examine Expert
Save Expert
  Site Guide ··   
Hearing Disorders: HELP
Articles by Elise Heon
Based on 4 articles published since 2010
(Why 4 articles?)
||||

Between 2010 and 2020, E. Héon wrote the following 4 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation. 2018

Calzetti, Giacomo / Levy, Richard A / Cideciyan, Artur V / Garafalo, Alexandra V / Roman, Alejandro J / Sumaroka, Alexander / Charng, Jason / Heon, Elise / Jacobson, Samuel G. ·Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. · Department of Ophthalmology and Vision Sciences, Program of Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. · Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: jacobsos@mail.med.upenn.edu. ·Am J Ophthalmol · Pubmed #29953849.

ABSTRACT: PURPOSE: To determine the change in vision and retinal structure in patients with the common c.2299delG mutation in the USH2A gene in anticipation of clinical trials of therapy. DESIGN: Retrospective observational case series. METHODS: Eighteen patients, homozygotes or compound heterozygotes with the c.2299delG mutation in USH2A, were studied with regard to visual acuity, kinetic perimetry, dark- and light-adapted static perimetry, optical coherence tomography (OCT), and autofluorescence (AF) imaging. Serial data were available for at least half of the patients, depending on the parameter analyzed. RESULTS: The kinetics of disease progression in this specific molecular form of USH2A differed between the measured parameters. Visual acuity could remain normal for decades. Kinetic and light-adapted static perimetry across the entire visual field had similar rates of decline that were slower than those of rod-based perimetry. Horizontal OCT scans through the macula showed that inner segment/outer segment line width had a similar rate of constriction as co-localized AF imaging and cone-based light-adapted sensitivity extent. The rate of constriction of rod-based sensitivity extent across this same region was twice as rapid as that of cones. CONCLUSIONS: In patients with the c.2299delG mutation in USH2A, rod photoreceptors are the cells that express disease early and more aggressively than cones. Rod-based vision measurements in central or extracentral-peripheral retinal regions warrant monitoring in order to complete a clinical trial in a timely manner.

2 Article The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. 2017

Kletke, S / Batmanabane, V / Dai, T / Vincent, A / Li, S / Gordon, K A / Papsin, B C / Cushing, S L / Héon, E. ·Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada. · Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada. · Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. · Department of Otolaryngology - Head & Neck Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada. · Archie's Cochlear Implant Laboratory, The Hospital for Sick Children, Toronto, Ontario, Canada. ·Clin Genet · Pubmed #27743452.

ABSTRACT: The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having USH. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was performed to determine the ocular phenotype. All the cases had undergone ocular examination and electroretinogram (ERG). Patients with an abnormal ERG underwent genetic testing for USH. We found an underlying ocular abnormality in 81.81% (27/33) of cases; of which 75% had refractive errors, and 50% of those patients showed visual improvement with refractive correction. A total of 14 cases (42.42%; 14/33) had generalized rod-cone dysfunction on ERG suggestive of Usher syndrome type 1, confirmed by mutational analysis. This work shows that adding vestibular impairment as a criterion for requesting an eye exam and adding the ERG to detect USH increases the chances of detecting ocular anomalies, when compared with previous literature focusing only on congenital SNHL.

3 Article Using Balance Function to Screen for Vestibular Impairment in Children With Sensorineural Hearing Loss and Cochlear Implants. 2016

Oyewumi, Modupe / Wolter, Nikolaus E / Heon, Elise / Gordon, Karen A / Papsin, Blake C / Cushing, Sharon L. ·*Department of Otolaryngology-Head and Neck Surgery, University of Toronto, Toronto †Department of Ophthalmology and Vision Sciences and Ear, Nose and Throat, The Hospital for Sick Children, Toronto ‡Archie's Cochlear Implant Laboratory, The Hospital for Sick Children, University of Toronto, Toronto §Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Canada. ·Otol Neurotol · Pubmed #27228014.

ABSTRACT: OBJECTIVES: 1) To determine if bilateral vestibular dysfunction can be predicted by performance on standardized balance tasks in children with sensorineural hearing loss (SNHL) and cochlear implants (CI). 2) To provide clinical recommendations for screening for vestibular impairment in children with SNHL. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary care pediatric implant center. PATIENTS: Pediatric patients (4.8-18.6 years) with profound SNHL using CIs. INTERVENTIONS: Vestibular end-organ (horizontal canal and otoliths), and balance assessment. MAIN OUTCOME MEASURES: Comparison of balance skills, measured by the Bruininks Oseretsky Test of Motor Proficiency II (BOT-2), was performed between two groups of children with SNHL and CI: 1) total bilateral vestibular loss (TBVL) (n = 45), and 2) normal bilateral vestibular function (n = 20). Sensitivity, specificity, and suitability of each task as a screening tool for the detection of TBVL were assessed. RESULTS: Balance as measured by the BOT-2 balance subtest was significantly poorer in children with TBVL then those with normal vestibular function (p < 0.0001). "Eyes closed" tasks best identified children with TBVL having the highest sensitivity and specificity. One-foot standing eyes closed was found to have the best performance as a screening tool for TBVL using a timed cutoff of 4 seconds. CONCLUSION: A brief in-office screen of balance function using one of the BOT-2 balance subtest tasks, one-foot standing eyes closed, is able to identify children at risk of TBVL with excellent sensitivity and specificity and should be used to screen for TBVL in all children presenting with SNHL.

4 Article A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 2015

Lenassi, Eva / Vincent, Ajoy / Li, Zheng / Saihan, Zubin / Coffey, Alison J / Steele-Stallard, Heather B / Moore, Anthony T / Steel, Karen P / Luxon, Linda M / Héon, Elise / Bitner-Glindzicz, Maria / Webster, Andrew R. ·UCL Institute of Ophthalmology and Moorfields Eye Hospital, University College of London, London, UK. · Eye Hospital, University Medical Centre, Ljubljana, Slovenia. · The Hospital for Sick Children, Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada. · Ocular Genetics, Singapore Eye Research Institute, Singapore, Singapore. · Wellcome Trust Sanger Institute, Hinxton, UK. · UCL Institute of Child Health, London, UK. · UCL Ear Institute, London, UK. · National Hospital for Neurology and Neurosurgery, London, UK. ·Eur J Hum Genet · Pubmed #25649381.

ABSTRACT: 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 screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration ('retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype-phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting.