April 1994
Volume 35, Issue 5
Free
Articles  |   April 1994
Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
Author Affiliations
  • S G Jacobson
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
  • C M Kemp
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
  • A V Cideciyan
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
  • J P Macke
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
  • C H Sung
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
  • J Nathans
    Department of Ophthalmology, University of Miami School of Medicine, Florida.
Investigative Ophthalmology & Visual Science April 1994, Vol.35, 2521-2534. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      S G Jacobson, C M Kemp, A V Cideciyan, J P Macke, C H Sung, J Nathans; Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.. Invest. Ophthalmol. Vis. Sci. 1994;35(5):2521-2534.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

PURPOSE: To understand the pathophysiology of retinitis pigmentosa caused by mutations in the rhodopsin gene that lead to truncation of the protein. METHODS: Heterozygotes with the glutamine-64-to-ter (Q64ter), the intron 4 splice site, and the glutamine-344-to-ter (Q344ter) mutations in the rhodopsin gene, representing families with at least three generations of affected members, were studied with clinical examinations and measurements of rod and cone sensitivity across the visual field, rod- and cone-isolated electroretinograms (ERGs), rod dark adaptation, and rhodopsin levels. RESULTS: There was a range of severity of disease expression in each family, some heterozygotes having moderate or severe retinal degeneration and others with a mild phenotype. The mildly affected heterozygotes had normal results on ocular examination but decreased rod sensitivities at most loci across the visual field, abnormalities in rod-isolated ERG a- and b-waves, and reduced rhodopsin levels. Rod dark adaptation followed an approximately normal time course of recovery in patients with the Q64ter mutation. Patients with the splice site or Q344ter mutations both had prolonged recovery of sensitivity, but the time course was different in the two genotypes. CONCLUSIONS: There is allele specificity for the pattern of retinal dysfunction in the Q64ter, intron 4 splice site, and Q344ter rhodopsin mutations. The pattern of dysfunction in all three mutations suggests the mutant opsins interfere with normal rod cell function, and there is subsequent rod and cone cell death.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×