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Congenital Stationary Night Blindness

Congenital Stationary Night Blindness

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Test Overview:

Known primarily in Briards, but naturally occurring cases described in Beagles and other breeds. Each breed may have breed-specific mutations.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

LRIT3

Variant Detected:

chr6:76893207-76893210 (canFam3): 4 bp deletion (del AAGA)

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:

Genetic testing of the RPE65 gene will reliably determine if a dog is a genetic carrier of congenital stationary night blindness.

Research Citation(s):

Mol Vis. 1998 Oct 30; 4:23. [PubMed: 9808841]
Invest Ophthalmol Vis Sci. 2010 Dec; 51(12):6793-802. [PubMed: 20671290]
Genomics. 1999 Apr 1; 57(1):57-61. [PubMed: 1019108}
Doc Ophthalmol. 1194; 87:337-354. [PubMed: 7851218]

Associated Breed(s):

Beagle, Briard, Mixed Breed,

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