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Alteration of rod and cone function in children with Usher syndrome.

Malm, Eva LU ; Ponjavic, Vesna LU ; Möller, Claes; Kimberling, William J; Stone, Edwin S and Andréasson, Sten LU (2011) In European Journal of Ophthalmology Jul 1. p.30-38
Abstract
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.... (More)
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. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
European Journal of Ophthalmology
volume
Jul 1
pages
30 - 38
publisher
Wichtig Editore
external identifiers
  • wos:000284782200006
  • pmid:20544672
  • scopus:78650683486
ISSN
1120-6721
DOI
10.5301/EJO.2010.5433
language
English
LU publication?
yes
id
b1bbf4ef-2aa8-47cb-8f3f-a1b2e611d63b (old id 1626114)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/20544672?dopt=Abstract
date added to LUP
2010-07-05 19:33:32
date last changed
2017-07-23 04:54:01
@article{b1bbf4ef-2aa8-47cb-8f3f-a1b2e611d63b,
  abstract     = {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.},
  author       = {Malm, Eva and Ponjavic, Vesna and Möller, Claes and Kimberling, William J and Stone, Edwin S and Andréasson, Sten},
  issn         = {1120-6721},
  language     = {eng},
  pages        = {30--38},
  publisher    = {Wichtig Editore},
  series       = {European Journal of Ophthalmology},
  title        = {Alteration of rod and cone function in children with Usher syndrome.},
  url          = {http://dx.doi.org/10.5301/EJO.2010.5433},
  volume       = {Jul 1},
  year         = {2011},
}