OMIA 001486-9615 : Night blindness, congenital stationary in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613216

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific description: Kondo et al. (2015) reported "a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man"

Molecular basis: Sequencing of candidate genes by Kondo et al. (2015) failed to reveal any likely causal mutations.

Clinical features: Kondo et al. (2015) reported "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."

Breed: Beagle.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Oh, A., Loew, E.R., Foster, M.L., Davidson, M.G., English, R.V., Gervais, K.J., Herring, I.P., Mowat, F.M. :
Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs? Doc Ophthalmol :, 2018. Pubmed reference: 30051304. DOI: 10.1007/s10633-018-9653-y.
2015 Kondo, M., Das, G., Imai, R., Santana, E., Nakashita, T., Imawaka, M., Ueda, K., Ohtsuka, H., Sakai, K., Aihara, T., Kato, K., Sugimoto, M., Ueno, S., Nishizawa, Y., Aguirre, G.D., Miyadera, K. :
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. PLoS One 10:e0137072, 2015. Pubmed reference: 26368928. DOI: 10.1371/journal.pone.0137072.

Edit History


  • Created by Frank Nicholas on 20 Jan 2016
  • Changed by Frank Nicholas on 20 Jan 2016