Leber Congenital Amaurosis

Body function:

Eyes

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Leber congenital amaurosis, or congenital night blindness, is a genetic disorder caused by a mutation in the RPE65 gene. It causes retina degeneration, leading to loss of night vision and, ultimately, total blindness. It is inherited in the autosomal recessive fashion, meaning both parents must be carriers for a litter to risk developing the condition.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Briard

A brown and white dog with floppy ears is looking up at the camera with a big smile and its tongue hanging out.

What does this mean for a dog with this trait?

There is no known treatment for Leber congenital amaurosis. Care may be provided by enhancing light sources at night, maintaining furniture positions for easier navigation, and leashing in unfamiliar situations.

Symptoms

Symptoms of Leber congenital amaurosis typically appear in the first 2 months of life and begin as loss of night vision. By 3 years of age, dogs will have visible light brown patches that start to cover the retina's surface. Over time, these patches overtake the entire retina, resulting in complete vision loss.

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