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Phenotype variation within a choroideremia family lacking the entire CHM gene

Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Andréasson, Sten LU ; van Bokhoven, Hans ; Cremers, Frans P M ; Ehinger, Berndt LU orcid and Fex, Göran (1995) In Ophthalmic Genetics 16(4). p.143-150
Abstract
A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity... (More)
A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene. (Less)
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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CHM gene, Choroideremia, full-field ERG, phenotype
in
Ophthalmic Genetics
volume
16
issue
4
pages
143 - 150
publisher
Taylor & Francis
external identifiers
  • scopus:0028786734
ISSN
1744-5094
DOI
10.3109/13816819509057855
language
English
LU publication?
yes
id
4125486e-58bb-4e68-a99d-07457dae1cfa (old id 1109728)
date added to LUP
2016-04-01 15:19:28
date last changed
2021-08-08 03:03:52
@article{4125486e-58bb-4e68-a99d-07457dae1cfa,
  abstract     = {{A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.}},
  author       = {{Ponjavic, Vesna and Abrahamson, Magnus and Andréasson, Sten and van Bokhoven, Hans and Cremers, Frans P M and Ehinger, Berndt and Fex, Göran}},
  issn         = {{1744-5094}},
  keywords     = {{CHM gene; Choroideremia; full-field ERG; phenotype}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{143--150}},
  publisher    = {{Taylor & Francis}},
  series       = {{Ophthalmic Genetics}},
  title        = {{Phenotype variation within a choroideremia family lacking the entire CHM gene}},
  url          = {{http://dx.doi.org/10.3109/13816819509057855}},
  doi          = {{10.3109/13816819509057855}},
  volume       = {{16}},
  year         = {{1995}},
}