June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Canine Model of Autosomal Recessive Complete-type Congenital Stationary Night Blindness
Author Affiliations & Notes
  • Mineo Kondo
    Ophthalmology, Mie Univ Graduate School of Med, Tsu, Japan
  • Ryoetsu Imai
    Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
  • Tomio Nakashita
    Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
  • Miho Imawaka
    Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
  • Kosuke Ueda
    Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
  • Hirohiko Ohtsuka
    Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Fujisawa, Japan
  • Shinji Ueno
    Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Gautami Das
    University of Pennsylvania, Philadelphia, PA
  • Keiko Miyadera
    University of Pennsylvania, Philadelphia, PA
  • Gustavo Aguirre
    University of Pennsylvania, Philadelphia, PA
  • Footnotes
    Commercial Relationships Mineo Kondo, None; Ryoetsu Imai, None; Tomio Nakashita, None; Miho Imawaka, None; Kosuke Ueda, None; Hirohiko Ohtsuka, Takeda Parmaceutical Company Limited (E); Shinji Ueno, None; Gautami Das, None; Keiko Miyadera, None; Gustavo Aguirre, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 731. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Mineo Kondo, Ryoetsu Imai, Tomio Nakashita, Miho Imawaka, Kosuke Ueda, Hirohiko Ohtsuka, Shinji Ueno, Gautami Das, Keiko Miyadera, Gustavo Aguirre; Canine Model of Autosomal Recessive Complete-type Congenital Stationary Night Blindness. Invest. Ophthalmol. Vis. Sci. 2013;54(15):731. doi: https://doi.org/.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose: To report a dog pedigree with autosomal recessive, complete-type congenital stationary night blindness (CSNB). We performed comprehensive clinical, functional, morphological, and genetic analyses on this dog pedigree.

Methods: To determine the inheritance pattern, we crossed affected dogs with normal beagle dogs. Affected dogs were identified by “negative” type of electroretinograms (ERGs). In addition to routine clinical testing, retinal histology was determined by light and electron microscopy. Full-field scotopic and photopic ERGs were elicited by various stimulus intensities. Photopic long duration stimuli ERGs were also recorded to study the retinal function of the on- and off-pathways. Association between CSNB and GRM6, TRPM1, and GPR179 was studied.

Results: We found that inheritance pattern of our night blindness dog is autosomal recessive. Fundus testing and fluorescein angiography were normal. Retinal histology was also normal by both light and electron microscopy.Full-field ERGs showed no detectable rod response, “electro-negative” mixed rod and cone response, and relatively preserved cone response. Photopic long-flash ERGs showed normal off-response (d-wave) associated with severely reduced on-response (b-wave). These ERG findings did not change for five years. No mutation was found on GRM6, TRPM1, and GPR178 gene.

Conclusions: Conclusion. These results suggested that our dogs are autosomal recessive CSNB with selective retinal on-pathway dysfunction. These dogs can be an useful large animal model of complete-type CSNB.

Keywords: 688 retina • 696 retinal degenerations: hereditary • 509 electroretinography: clinical  
×
×

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.

×