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The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.
Clin Genet. 2017 Jul; 92(1):26-33.CG

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.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Kletke S
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Batmanabane V
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.
Dai T
Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Vincent A
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.
Li S
Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Gordon KA
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.
Papsin BC
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.
Cushing SL
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.
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.

MeSH

AdolescentChildChild, PreschoolElectroretinographyEyeFemaleHearing Loss, SensorineuralHumansMaleRetinitis PigmentosaUsher SyndromesVestibular DiseasesYoung Adult

Pub Type(s)

Journal Article

Language

eng

PubMed ID

27743452

Citation

Kletke, S, et al. "The Combination of Vestibular Impairment and Congenital Sensorineural Hearing Loss Predisposes Patients to Ocular Anomalies, Including Usher Syndrome." Clinical Genetics, vol. 92, no. 1, 2017, pp. 26-33.
Kletke S, Batmanabane V, Dai T, et al. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. Clin Genet. 2017;92(1):26-33.
Kletke, S., Batmanabane, V., Dai, T., Vincent, A., Li, S., Gordon, K. A., Papsin, B. C., Cushing, S. L., & Héon, E. (2017). The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. Clinical Genetics, 92(1), 26-33. https://doi.org/10.1111/cge.12895
Kletke S, et al. The Combination of Vestibular Impairment and Congenital Sensorineural Hearing Loss Predisposes Patients to Ocular Anomalies, Including Usher Syndrome. Clin Genet. 2017;92(1):26-33. PubMed PMID: 27743452.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. AU - Kletke,S, AU - Batmanabane,V, AU - Dai,T, AU - Vincent,A, AU - Li,S, AU - Gordon,K A, AU - Papsin,B C, AU - Cushing,S L, AU - Héon,E, Y1 - 2017/01/16/ PY - 2016/08/03/received PY - 2016/10/05/revised PY - 2016/10/12/accepted PY - 2016/10/16/pubmed PY - 2018/3/17/medline PY - 2016/10/16/entrez KW - Usher's syndrome KW - ocular anomalies KW - sensorineural hearing loss KW - vestibular impairment SP - 26 EP - 33 JF - Clinical genetics JO - Clin Genet VL - 92 IS - 1 N2 - 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. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/27743452/The_combination_of_vestibular_impairment_and_congenital_sensorineural_hearing_loss_predisposes_patients_to_ocular_anomalies_including_Usher_syndrome_ DB - PRIME DP - Unbound Medicine ER -