Usher syndrome type 1: Early detection of electroretinographic changes

Abstract Background Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years. Aim To describe electroretinographic change...

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Bibliographic Details
Published in:	European journal of paediatric neurology Vol. 13; no. 6; pp. 505 - 507
Main Authors:	Flores-Guevara, Roberto, Renault, Francis, Loundon, Natalie, Marlin, Sandrine, Pelosse, Béatrice, Momtchilova, Martha, Auzoux-Chevé, Monique, Vermersch, Anne Isabelle, Richard, Pascal
Format:	Journal Article
Language:	English
Published:	England Elsevier Ltd 01-11-2009
Subjects:	Child Child, Preschool Deafness Electroencephalography Electroretinogram Female Humans Infant Male Neurology Pediatrics Reaction Time - physiology Retrospective Studies Usher syndrome Usher Syndromes - diagnosis Usher Syndromes - physiopathology Deafness Electroretinogram Child Usher syndrome
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Summary:	Abstract Background Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years. Aim To describe electroretinographic changes in young children with Usher syndrome type 1. Methods Retrospective study of fourteen patients. Age at first neurophysiologic testing was between 17 months and 5 years 4 months. Electroretinogram was performed using flash stimulation in mesopic conditions in the conscious child. Analysis was focused on the amplitudes and latencies of a- and b-waves. Results Whatever the age, an abnormal fundus was always confirmed with an absent electroretinogram. The youngest patient with absent electroretinogram was 17 month-old. When recorded on and after the 29th month of age, electroretinogram was absent in all cases, including 6 patients with normal fundus. In three patients a low-amplitude electroretinogram was present at first recording within the 26th and 27th months. Conclusion Electroretinogram showed retinopathy in young children with Usher syndrome type 1, even in the absence of fundoscopic signs of retinal degeneration.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	1090-3798 1532-2130
DOI:	10.1016/j.ejpn.2008.10.002