Idaho Medical Home Portal - Hearing Loss Associated with Eye Abnormalities and Vision (Usher Syndrome)

A combination of hearing loss and eye abnormalities is found in approximately 30 heritable syndromes, the most common of which is Usher syndrome. It is estimated that 10% of all children with hearing loss have Usher syndrome. [Kimberling: 2010] Ophthalmologic referral should be made whenever hearing loss is identified in a child and some suggest annual ophthalmologic evaluation to rule out late-onset vision disorders (Pediatric Ophthalmology (see ID providers [8])).

At least 3 distinct types of Usher syndrome have been described.

Type 1 is characterized by profound hearing loss, retinitis pigmentosa with onset before age 10 years, and vestibular abnormalities. These children may be delayed in their acquisition of early motor milestones.
Type 2 displays sloping, high-frequency sensorineural hearing loss, normal vestibular function, and later onset of retinitis pigmentosa than that seen in Type 1 disease.
Type 3 is characterized by progressive audio-vestibular dysfunction over decades and variable-onset of retinitis pigmentosa. [National: 2018] Not every patient with both retinitis pigmentosa and sensorineural hearing loss has Usher syndrome.

Some authors have suggested that all children with severe to profound hearing loss should be screened by ophthalmologic exam and electroretinogram for Usher syndrome. In one study of consecutive patients over 2 years of age with severe to profound preverbal hearing loss, 10.4% (5 out of 48) were diagnosed with Usher syndrome after undergoing complete ophthalmologic evaluation that included an electroretinogram. [Mets: 2000]

Resources

Information & Support

For Professionals

Usher Syndrome Type 1 (GeneReviews)
Detailed review including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography; US Library of Medicine.

Usher Syndrome Type 2 (GeneReviews)
Detailed review including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography; US Library of Medicine.

Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American Academy of Pediatrics.

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Pediatric Ophthalmology

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Helpful Articles

Gundfast, K and Josephson, G.
Hereditary hearing loss.
Clinical Otology. 1997; 480. New York: Thieme Medical Publishers; http://www.amazon.com/exec/obidos/tg/detail/-/0865776164/qid=110824374...

Tomaski SM, Grundfast KM.
A stepwise approach to the diagnosis and treatment of hereditary hearing loss.
Pediatr Clin North Am. 1999;46(1):35-48. PubMed abstract

Authors & Reviewers

Initial publication: September 2008; last update/revision: February 2018

Current Authors and Reviewers:

Authors:	Richard Harward, AuD
	Karl White, Ph D
Contributing Author:	Jennifer Goldman-Luthy, MD, MRP, FAAP

Page Bibliography

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet Med. 2010. PubMed abstract / Full Text

Mets MB, Young NM, Pass A, Lasky JB.
Early diagnosis of Usher syndrome in children.
Trans Am Ophthalmol Soc. 2000;98:237-42; discussion 243-5. PubMed abstract / Full Text

National Institute on Deafness and Other Communication Disorders.
Usher Syndrome [NIDCD Health Information].
National Institutes of Health; (2018) https://www.nidcd.nih.gov/health/usher-syndrome. Accessed on 02/13/18.
Includes general information about the three types of Usher syndrome and lists other useful internet sites.