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Congenital Stationary Night Blindness (Beagle Type)

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Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

LRIT3

Variant Detected:

chr32:30245558-30265027; c.763delG

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

electroretinogram (ERG)

Research Citation(s):

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. Takahashi, K., Kwok, J.C., Sato, Y., Aguirre, G.D., Miyadera, K. : Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness. Vision Res 209:108260, 2023. Pubmed reference: 37220680. DOI: 10.1016/j.visres.2023.108260.

Associated Breed(s):

Beagle, Beaglier,

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