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Alteration of rod and cone function in children with Usher syndrome
Department of Ophthalmology, Lund University Hospital, Lund, Sweden.
Department of Ophthalmology, Lund University Hospital, Lund, Sweden.
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2011 (English)In: European Journal of Ophthalmology, ISSN 1120-6721, E-ISSN 1724-6016, Vol. 21, no 1, 30-38 p.Article in journal (Refereed) Published
Abstract [en]

Purpose: To evaluate the retinal function, with emphasis on phenotype and rate of progression, in infants and children with different genotypes of Usher syndrome.

Methods: Fourteen children (2-10 years of age) with retinitis pigmentosa and hearing impairment were examined with full-field electroretinography (ERG) during general anesthesia, ophthalmologic examination, and genetic analysis. Five children were repeatedly examined (follow-up 5-10 years) with full-field ERG under local anesthesia and in 2 children multifocal ERG and optical coherence tomography (OCT) were performed. These results were compared to full-field ERG data from 58 children without retinal eye disorder.

Results: Six children were genotyped as Usher 1B, 2A, and 3A. Full-field ERG demonstrated early alterations corresponding to a rod-cone dystrophy in all children. A remaining rod function could be verified in the majority of the children up to 4 years of age. After 4 years of age, there was a further deterioration of the rod function; the progress was severe in Usher types 1 and 2 and moderate in Usher type 3. In all children, the cone function was moderately reduced, in a few cases almost normal. The results from the 58 children without retinal disorder confirm that full-field ERG during general anesthesia is reliable. Multifocal ERG confirmed a preserved central cone function and in OCT there were discrete structural alterations.

Conclusions: Full-field ERG during general anesthesia in children with Usher syndrome demonstrates variable phenotypes and different degrees in rate of progression during childhood.

Place, publisher, year, edition, pages
Milan, Italy: Wichtig Editore Srl, 2011. Vol. 21, no 1, 30-38 p.
Keyword [en]
Electroretinography, General anesthesia, Usher syndrome
National Category
Medical and Health Sciences Ophthalmology
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-12019DOI: 10.5301/EJO.2010.5433ISI: 000284782200006PubMedID: 20544672OAI: oai:DiVA.org:oru-12019DiVA: diva2:354881
Funder
NIH (National Institute of Health)
Note

Funding Agencies:

Swedish Medical Research Council 

Soderberg Foundation 

Foundation Fighting Blindness (Owings Mills, MD)

Swedish Association of the Visually Impaired 

Howard Hughes Medical Institute 

Available from: 2010-10-05 Created: 2010-10-05 Last updated: 2017-12-12Bibliographically approved

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