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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


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.


  • Eva Malm
  • Vesna Ponjavic
  • Claes Möller
  • William J Kimberling
  • Edwin S Stone
  • Sten Andréasson
Enheter & grupper

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Oftalmologi
Sidor (från-till)30-38
TidskriftEuropean Journal of Ophthalmology
VolymJul 1
StatusPublished - 2011
Peer review utfördJa

Relaterad forskningsoutput

Malm, E., 2011, Department of Clinical Sciences, Lund University. 110 s.

Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

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