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  • Title: Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis.
    Author: Khan NW, Jamison JA, Kemp JA, Sieving PA.
    Journal: Vision Res; 2001 Dec; 41(28):3931-42. PubMed ID: 11738458.
    Abstract:
    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 R(max) and logS 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.
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