Disease overview

Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. This disorder is characterized by stationary night blindness in infancy, due to a decreased sensitivity to light.

Gene name

RPE65

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will present with rhythmic eye flicking called "nystagmus". Changes in behavior, such as reluctance to go down the stairs or into a dark room, and/or bumping into door frames may be signs that your dog is experiencing vision loss.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Veske A, Nilsson SE, Narfström K, Gal A. Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics. 1999 Apr 1;57(1):57-61. doi: 10.1006/geno.1999.5754. PMID: 10191083.

Aguirre GD, Baldwin V, Pearce-Kelling S, Narfström K, Ray K, Acland GM. Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis. 1998 Oct 30;4:23. PMID: 9808841.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.