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Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.

Malm, Eva LU ; Ponjavic, Vesna LU ; Möller, Claes; Kimberling, William J and Andréasson, Sten LU (2011) In Ophthalmic Genetics 32. p.65-74
Abstract
Objective: To characterize visual function in defined genotypes including siblings with Usher syndrome. Methods: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL). Results: Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the... (More)
Objective: To characterize visual function in defined genotypes including siblings with Usher syndrome. Methods: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL). Results: Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG. Conclusions: Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Ophthalmic Genetics
volume
32
pages
65 - 74
publisher
Taylor & Francis
external identifiers
  • wos:000290488500001
  • pmid:21174530
  • scopus:79955809485
ISSN
1744-5094
DOI
10.3109/13816810.2010.536064
language
English
LU publication?
yes
id
f0d554e3-8828-4d58-bd72-5cb5a10983e2 (old id 1755940)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21174530?dopt=Abstract
date added to LUP
2011-01-03 18:08:01
date last changed
2017-01-01 07:50:16
@article{f0d554e3-8828-4d58-bd72-5cb5a10983e2,
  abstract     = {Objective: To characterize visual function in defined genotypes including siblings with Usher syndrome. Methods: Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL). Results: Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG. Conclusions: Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome.},
  author       = {Malm, Eva and Ponjavic, Vesna and Möller, Claes and Kimberling, William J and Andréasson, Sten},
  issn         = {1744-5094},
  language     = {eng},
  pages        = {65--74},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics},
  title        = {Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.},
  url          = {http://dx.doi.org/10.3109/13816810.2010.536064},
  volume       = {32},
  year         = {2011},
}