Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation

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• 作者：Raaya Ezra-Elia (1)
  Eyal Banin (2)
  Hen Honig (3)
  Alexander Rosov (3)
  Alexey Obolensky (2)
  Edward Averbukh (2)
  William W. Hauswirth (4)
  Elisha Gootwine (3)
  Ron Ofri (1)
  
• 关键词：Critical flicker fusion frequency (CFF) ; Electroretinography (ERG) ; Photopic response
• 刊名：Documenta Ophthalmologica
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：129
• 期：3
• 页码：141-150
• 全文大小：2,646 KB
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• 作者单位：Raaya Ezra-Elia (1)
  Eyal Banin (2)
  Hen Honig (3)
  Alexander Rosov (3)
  Alexey Obolensky (2)
  Edward Averbukh (2)
  William W. Hauswirth (4)
  Elisha Gootwine (3)
  Ron Ofri (1)
  
  1. Koret School of Veterinary Medicine, Hebrew University of Jerusalem, PO Box 12, 7610001, Rehovot, Israel
  2. Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  3. Agricultural Research Organization, The Volcani Center, Bet Dagan, Israel
  4. Department of Ophthalmology, University of Florida, Gainesville, FL, USA
  
• ISSN：1573-2622

文摘

Purpose Recently we reported on day blindness in sheep caused by a mutation in the CNGA3 gene, thus making affected sheep a naturally occurring large animal model for therapeutic intervention in CNGA3 achromatopsia patients. The purpose of this study was to characterize flicker cone function in normal and day blind sheep, with the aim of generating a normative data base for ongoing gene therapy studies. Methods Electoretinographic (ERG) cone responses were evoked with full-field conditions in 10 normal, 6 heterozygous carriers and 36?day blind sheep. Following light adaptation (10?min, 30?cd/m2), responses were recorded at four increasing light intensities (1, 2.5, 5 and 10?cd?s/m2). At each of these intensities, a single photopic flash response followed by 8 cone flicker responses (10-0?Hz) was recorded. Results were used to generate a normative data base for the three groups. Differences between day blind and normal control animals were tested in two age-matched groups (n?=?10 per group). Results The normal sheep cone ERG wave is bipartite in nature, with critical flicker fusion frequency (CFF) >80?Hz. In all four flash intensities, the single photopic flash a-wave and b-wave amplitudes were significantly lower (p?p?p? Conclusions Cone function is severely depressed in day blind sheep. Our results will provide a normative data base for ongoing gene therapy studies.