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Phenotype variation within a choroideremia family lacking the entire CHM gene

På svenska

Author

Summary, in English

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.

Publishing year

1995

Language

English

Pages

143-150

Publication/Series

Ophthalmic Genetics

Volume

16

Issue

4

Document type

Journal article

Publisher

Taylor & Francis

Topic

  • Ophthalmology

Keywords

  • CHM gene
  • Choroideremia
  • full-field ERG
  • phenotype

Status

Published

ISBN/ISSN/Other

  • ISSN: 1744-5094