Congenital stationary night blindness
The disease, which has been sporadically reported in France and the USA, is caused by a missense mutation is in the retinal pigment epithelium-specific protein 65kD (RPE65) gene located on canine chromosome 6, leading to retinal dysfunction and accumulation of lipid vacuoles in the retinal pigment epithelium. The pathology is located mainly in the central and tapetal areas of the retina and morphologically different from other hereditary canine retinopathies.
Briard dogs, showing structural changes of the rod outer segments in addition to pigment epithelial inclusions,
A differential diagnosis would include progressive retinal atrophy, where night-vision is also affected.
There is no treatment for this condition and mildly affected dogs can achieve normal longevity.
- Cornell Uni
- Narfström K (1999) Retinal dystrophy or 'congenital stationary night blindness' in the Briard dog. Vet Ophthalmol 2(1):75-76
- Narfström K et al (1989) The Briard dog: a new animal model of congenital stationary night blindness. Br J Ophthalmol 73(9):750-756
- Aguirre GD et al (1998) Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4:23
- Wrigstad A et al (1992) Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. Exp Eye Res 55(6):805-818