title: The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
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.
authors.affiliation: Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Kletke
authors.affiliation: Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: V
authors.initials: V
authors.lastname: Batmanabane
authors.affiliation: Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Dai
authors.affiliation: 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.
authors.forename: A
authors.initials: A
authors.lastname: Vincent
authors.affiliation: Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Ophthalmology and Vision Sciences, University of Toronto, 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.
authors.forename: K A
authors.initials: KA
authors.lastname: Gordon
authors.affiliation: 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.
authors.forename: B C
authors.initials: BC
authors.lastname: Papsin
authors.affiliation: 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.
authors.forename: S L
authors.initials: SL
authors.lastname: Cushing
authors.affiliation: 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.
authors.forename: E
authors.initials: E
authors.lastname: Héon
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005123:Eye / Q000503:physiopathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D052245:Usher Syndromes / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D055815:Young Adult
keywords: Usher's syndrome; ocular anomalies; sensorineural hearing loss; vestibular impairment