August 1995
Volume 36, Issue 9
Free
Articles  |   August 1995
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
Author Affiliations
  • M A Sandberg
    Berman-Gund Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
  • C Weigel-DiFranco
    Berman-Gund Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
  • T P Dryja
    Berman-Gund Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
  • E L Berson
    Berman-Gund Laboratory, Massachusetts Eye and Ear Infirmary, Boston 02114, USA.
Investigative Ophthalmology & Visual Science August 1995, Vol.36, 1934-1942. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      M A Sandberg, C Weigel-DiFranco, T P Dryja, E L Berson; Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.. Invest. Ophthalmol. Vis. Sci. 1995;36(9):1934-1942.

      Download citation file:


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

      ×
  • Supplements
Abstract

PURPOSE: To determine whether severity of retinitis pigmentosa caused by dominant rhodopsin mutations depends on the location altered by the mutation. METHODS: Data from 128 patients (age range, 7 to 73 years), each with 1 to 27 rhodopsin mutations, were analyzed. To approximate normal distributions, visual acuities were converted to ranks and then to the normal form, kinetic visual fields to a V4e test light were converted to equivalent diameters, and dark-adapted sensitivities to an 11 degrees diameter stimulus and electroretinogram (ERG) amplitudes to full-field 0.5-Hz and 30-Hz flashes were converted to common logarithms. Each of these measures was then regressed on age, refractive error (for the ERG), and domain (intradiscal, transmembrane, or cytoplasmic) or codon number of the opsin molecule altered by the mutation. RESULTS: All five measures of function varied significantly with the domain (P < or = 0.0007) or codon number (P < 0.0001) altered by a mutation; visual acuity, visual field diameter, dark-adapted sensitivity, and ERG amplitudes were highest for mutations altering the intradiscal domain or low-numbered codons and lowest for mutations altering the cytoplasmic domain or high-numbered codons. CONCLUSIONS: These data indicate that severity of disease correlates with the location of the amino acid residue altered by a rhodopsin mutation in dominant retinitis pigmentosa.

×
×

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.

×