June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Altered retinal function and eye morphology in mice with different mutations in the microphthalmia-associated transcription factor (Mitf)
Author Affiliations & Notes
  • Thor Eysteinsson
    Physiology, University of Iceland, Reykjavik, Iceland
  • Andrea García Llorca
    Physiology, University of Iceland, Reykjavik, Iceland
  • Snaefridur Gudmundsdóttir Aspelund
    Psychology, University of Iceland, Reykjavík, Iceland
  • Margrét Helga Ogmundsdóttir
    Biochemistry and Molecular Biology, University of Iceland, Reykjavík, Iceland
  • Eiríkur Steingrímsson
    Biochemistry and Molecular Biology, University of Iceland, Reykjavík, Iceland
  • Footnotes
    Commercial Relationships   Thor Eysteinsson, None; Andrea García Llorca, None; Snaefridur Aspelund, None; Margrét Ogmundsdóttir, None; Eiríkur Steingrímsson, None
  • Footnotes
    Support  Icelandic Research Council grants and Helga Jonsdottir and Sigurlidi Kristjansson Memorial Fund
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 4521. doi:
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      Thor Eysteinsson, Andrea García Llorca, Snaefridur Gudmundsdóttir Aspelund, Margrét Helga Ogmundsdóttir, Eiríkur Steingrímsson; Altered retinal function and eye morphology in mice with different mutations in the microphthalmia-associated transcription factor (Mitf). Invest. Ophthalmol. Vis. Sci. 2017;58(8):4521.

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

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Abstract

Purpose : Mutations at the mouse microphthalmia-associated transcription factor locus (Mitf) can cause hypopigmentation, microphthalmia and blindness. The aim was to analyse the retinal function and morphology of the eye in mice with four specific Mitf mutations.

Methods : The following Mitf mutations were examined: Mitfmi-vga9/+, Mitfmi-enu122 (398), Mitfmi-wh/+, Mitfmi-wh/mi and wild type (C5BL/6J) mice as a control. Mice were anaesthetized by an intraperitoneal injection of 40 mg/kg-1 Ketamine and 4 mg/kg-1 Xylazine. Flash electroretinography (ERG) from mice with pupils dilated, a corneal electrode and a reference electrode was used to determine retinal function. Histological retinal sections were stained with hematoxylin and eosin.

Results : ERG recordings revealed that only two of the four mutants had any retinal function. Mitfmi-enu122 (398) and Mitfmi-vga9/+ had significantly larger photopic b-waves at 1.57 and 1.87 log cd*sec/m2 than control (p<0.05). No differences were found between the amplitudes of the scotopic a- and b-waves of the Mitfmi-enu122 (398), Mitfmi-vga9/+ and control. Histology revealed that the retinas in the Mitfmi-enu122 (398) and Mitfmi-vga9/+ appear normal and the RPE layer is thinner in the Mitfmi-enu122 (398), whereas Mitfmi-vga9/+ has a pigmented choroid. However, the Mitfmi-wh/+ have a profound RPE degeneration and this layer is missing from the Mitfmi-wh/mi animals. Both mutations have severe retinal degeneration, lacking the photoreceptor and outer plexiform layers, and extinguished ERGs.

Conclusions : This study demonstrates that the Mitf gene has an impact on retinal function, the morphology of the neuroretina and the RPE in mice to a varying degree, depending on the mutations involved.

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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