Description: The disease is manifested by slow retinal degeneration and the first clinical manifestations of the disease appear as early as six months of age. In the first stage, there is night blindness, a daily vision not impaired. As the disease progresses, the condition of the affected individual worsens until complete blindness can occur. In the exon 5 of the RPE65 gene (retina pigment epithelium-specific protein), a deletion of AAGAdel487-490 was found (Aguirre et al., 1998; Veske et al., 1999) causing this hereditary defect. The 4 bp deletion (AAGA) causes a reading frame shift during protein synthesis and results in the generation of a premature stop codon.
Inheritance: autosomal recessive
Mutation: c.487_490del in RPE65 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Briard