November 1995
Volume 36, Issue 12
Free
Articles  |   November 1995
Selective cone dystrophy with protan genotype.
Author Affiliations
  • U Kellner
    Freie Universität Berlin, Universitätsklinikum Benjamin Franklin, Germany.
  • B Sadowski
    Freie Universität Berlin, Universitätsklinikum Benjamin Franklin, Germany.
  • E Zrenner
    Freie Universität Berlin, Universitätsklinikum Benjamin Franklin, Germany.
  • M H Foerster
    Freie Universität Berlin, Universitätsklinikum Benjamin Franklin, Germany.
Investigative Ophthalmology & Visual Science November 1995, Vol.36, 2381-2387. doi:
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      U Kellner, B Sadowski, E Zrenner, M H Foerster; Selective cone dystrophy with protan genotype.. Invest. Ophthalmol. Vis. Sci. 1995;36(12):2381-2387.

      Download citation file:


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

      ×
  • Supplements
Abstract

PURPOSE: To determine the functional defects in two male patients with progressive cone dystrophy and hybrid L-M cone pigment genes. METHODS: Clinical evaluation, standard electroretinography, and electrooculography were performed in two affected patients and two family members. Measurements of spectral sensitivity and transient tritanopia were made in both patients. RESULTS: In the patients, visual acuity varied between 20/50 and 20/100. The electroretinogram showed reduced flicker responses. When light adapted, a-wave amplitudes were borderline, but b-wave amplitudes were reduced severely. Electroretinography with chromatic stimuli showed a difference between well-preserved responses to green and markedly reduced responses to red stimuli. Spectral sensitivity measurement revealed a lack of L (long-wavelength sensitive; red) cone function and normal function of the S (short-wavelength sensitive; blue) and M (middle-wavelength sensitive; green) cones. Transient tritanopia was abnormal, indicating a severe disturbance of cone-cone interaction. CONCLUSIONS: Progressive cone dystrophy with predominant dysfunction of L cones exists in both patients. The cone dystrophy may be caused by a rearrangement of the X-chromosome pigment gene array that is associated with the deletion of L-cone sequences and the formation of hybrid L-M cone pigment genes. It cannot be excluded, however, that both patients have protanopia and that cone dystrophy developed because of other causes.

×
×

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.

×