June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Functional and Morphological Characteristics of Three Mouse Models for X-Linked Juvenile Retinoschisis
Author Affiliations & Notes
  • Junzo Kinoshita
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States
  • Yang Liu
    Ophthalmology, Regeneron Pharmaceuticals Inc., Tarrytown, New York, United States
  • Jingtai Cao
    Ophthalmology, Regeneron Pharmaceuticals Inc., Tarrytown, New York, United States
  • Brent A Bell
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States
  • Carl Romano
    Ophthalmology, Regeneron Pharmaceuticals Inc., Tarrytown, New York, United States
  • Neal S Peachey
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, United States
    Louis Stokes Cleveland VA Medical Center, Cleveland, Ohio, United States
  • Footnotes
    Commercial Relationships   Junzo Kinoshita, Regeneron Pharmaceuticals (F); Yang Liu, Regeneron Pharmaceuticals (E); Jingtai Cao, Regeneron Pharmaceuticals (E); Brent Bell, Regeneron Pharmaceuticals (F); Carl Romano, Regeneron Pharmaceuticals (E); Neal Peachey, Regeneron Pharmaceuticals (F)
  • Footnotes
    Support  Regeneron Pharmaceuticals, P30EY025585, Unrestricted Grant from Research to Prevent Blindness to Cole Eye Institute, Foundation Fighting Blindness Center Grant
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 276. doi:
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    • Get Citation

      Junzo Kinoshita, Yang Liu, Jingtai Cao, Brent A Bell, Carl Romano, Neal S Peachey; Functional and Morphological Characteristics of Three Mouse Models for X-Linked Juvenile Retinoschisis. Invest. Ophthalmol. Vis. Sci. 2017;58(8):276.

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

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Abstract

Purpose : To characterize the retinal phenotype of a series of mouse models for X-linked retinoschisis (XLRS). These models include a knock-out (KO) of retinoschisin (Rs1) and two knock-in mutants for two human disease-causing point mutations (C59S, R141C).

Methods : Outer retinal function was evaluated by dark-adapted (DA-) and light-adapted (LA-) full-field electroretinograms (ERGs). Retinal architecture was assessed by optical coherence tomography (OCT).

Results : In comparison to wild type control, the DA-ERG b-wave was greatly diminished in Rs1-/Y hemizygous KO males and Rs1-/- homozygous females. The DA-ERG a-wave was also reduced in amplitude. DA-ERG results were similar in the two point mutant models. The LA-ERG was also reduced in each of the Rs1 mutants. ERG abnormalities were relatively stable from 8 to 28 weeks of age, and we are following these mice to still older ages. Each model showed prominent schisis in the outer plexiform layer in OCT. In addition, hyper-reflective morphological changes were observed in the photoreceptor layer, namely between the IS/OS transition and cone outer segments. The retinal phenotype of Rs1+/- heterozygous females was comparable to control littermates, with normal amplitude ERGs and no schisis apparent on OCT imaging.

Conclusions : The results indicate that the phenotype of Rs1 mutant mice replicates that seen in XLRS patients, and varies with the nature of the genetic mutation. These mice will be of value for examination of experimental treatments for this human condition.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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