Establishment of dog model of congenital stationary night blindness

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462683
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Mie University
• Principal Investigator: Kondo Mineo 三重大学, 医学系研究科, 教授 (80303642)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 動物モデル / 網膜 / 夜盲 / 先天停在性夜盲 / 犬 / 網膜電図 / 遺伝 / ERG

Outline of Final Research Achievements

Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Genetic testing ruled out most known CSNB candidates. Retinal morphology showed normal cellular layers and structure, and electron microscopy revealed normal rod spherules and synaptic ribbons. Our results indicate involvement of a yet unknown gene in this canine model of complete CSNB.

Free Research Field

眼科学