The Natural History and Genotypes of Choroideremia

• Author / Creator

  Freund, Paul R

• Choroideremia (CHM) is an inherited X-linked retinal dystrophy that causes hemizygous males to develop nyctalopia and a progressive loss of their peripheral visual field until only central vision remains. At the end stages of the degeneration, central acuity is also affected. The onset and rate of the degeneration varies significantly among individuals. This study looked to establish a relationship between 66 pathogenic mutations in the CHM gene and their respective CHM phenotypes.
  Cross-sectional analysis of the clinical data and genotypes of affected males did not show any genotype-phenotype correlations that could predict the observed variability. Analyses showed variable loss of visual acuity in individuals above 40 years of age, precluding its use as a sensitive marker of disease progression. Visual function was better monitored by width of visual field (by Goldmann perimetry or microperimetry), foveal sensitivity, or full-field stimulus threshold. This will be pertinent for monitoring and evaluating clinical trials of gene therapy.

• Subjects / Keywords

  • Phenotype
  • Genotype
  • Visual acuity
  • REP-1
  • Choroideremia
  • Microperimetry
  • Full-field stimulus threshold
  • Visual field
  • Rab Escort Protein 1
  • Natural history
  • CHM

• Graduation date

  Fall 2014

• Type of Item

  Thesis

• Degree

  Master of Science

• DOI

  https://doi.org/10.7939/R3FF3M633

• License

  This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.