Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis

Naheed W. Khan, Jeffrey A. Jamison, Jennifer A. Kemp, Paul A. Sieving

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Thirteen retinoschisis males with genotyped XLRS1 gene mutations were examined by electroretinogram (ERG) techniques to determine photoreceptor involvement and ON-pathway and OFF-pathway sites of dysfunction. Parameters Rmax and log S determined by fitting the mathematical model of the activation phase of phototransduction to the scotopic and photopic a-wave responses, were not significantly different from normal. However, the XLRS photopic a-wave amplitudes were significantly lower than normal across all intensities, consistent with defective signaling in the OFF pathway. Long flash (150 ms) ON-OFF photopic responses showed reduced b-wave amplitude but normal d-wave amplitude, giving a reduced b/d ratio of < 1.32 Hz photopic flicker ERG fundamental frequency responses showed reduced amplitude and delayed phase, consistent with abnormal signaling by both the ON- and OFF-pathway components. These results indicate that the XLRS1 protein appears not to affect photoreceptor function directly for most XLRS males, and that ERG signaling abnormalities occur in both the ON- and OFF-pathway components that originate in the proximal retina.

Original languageEnglish (US)
Pages (from-to)3931-3942
Number of pages12
JournalVision Research
Issue number28
StatePublished - 2001
Externally publishedYes


  • A-wave
  • Electroretinogram (ERG)
  • Flicker
  • Photoreceptor
  • Retinoschisis

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems


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