Alteration of rod and cone function in children with Usher syndrome

Eva Malm, Vesna Ponjavic, Claes Möller, William J Kimberling, Edwin S. Stone, Sten Andréasson

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)30-38
Number of pages9
JournalEuropean journal of ophthalmology
Volume21
Issue number1
DOIs
StatePublished - Jan 1 2011

Fingerprint

Usher Syndromes
Vertebrate Photoreceptor Cells
Electroretinography
General Anesthesia
Retinitis Pigmentosa
Optical Coherence Tomography
Phenotype
Local Anesthesia
Hearing Loss

Keywords

  • Electroretinography
  • General anesthesia
  • Usher syndrome

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Malm, E., Ponjavic, V., Möller, C., Kimberling, W. J., Stone, E. S., & Andréasson, S. (2011). Alteration of rod and cone function in children with Usher syndrome. European journal of ophthalmology, 21(1), 30-38. https://doi.org/10.5301/EJO.2010.5433

Alteration of rod and cone function in children with Usher syndrome. / Malm, Eva; Ponjavic, Vesna; Möller, Claes; Kimberling, William J; Stone, Edwin S.; Andréasson, Sten.

In: European journal of ophthalmology, Vol. 21, No. 1, 01.01.2011, p. 30-38.

Research output: Contribution to journalArticle

Malm, E, Ponjavic, V, Möller, C, Kimberling, WJ, Stone, ES & Andréasson, S 2011, 'Alteration of rod and cone function in children with Usher syndrome', European journal of ophthalmology, vol. 21, no. 1, pp. 30-38. https://doi.org/10.5301/EJO.2010.5433
Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S. Alteration of rod and cone function in children with Usher syndrome. European journal of ophthalmology. 2011 Jan 1;21(1):30-38. https://doi.org/10.5301/EJO.2010.5433
Malm, Eva ; Ponjavic, Vesna ; Möller, Claes ; Kimberling, William J ; Stone, Edwin S. ; Andréasson, Sten. / Alteration of rod and cone function in children with Usher syndrome. In: European journal of ophthalmology. 2011 ; Vol. 21, No. 1. pp. 30-38.
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