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This is an early onset, inherited eye disease affecting dogs.
It occurs as a result of degeneration of both rod and cone type photosensitve cells in the retina, which are important for vision in dim and bright light, respectively.
Abnormalities can be seen on an electro-retinogram by 5 weeks of age.
However, diagnosis during a standard veterinary ophthalmic exam is not typically possible until 10 months to 3 years of age.
In affected dogs, "day blindness” usually develops first.
Over time, affected dogs progress to complete blindness usually by 6 years of age, although disease progression is variable in affected dogs.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Nephrocystin 4 (NPHP4) on Chromosome 5
Variant Detected:
Nucleotide Deletion g.62913591–62913770del (exon 5/intron 5)
Mode of Inheritance:
Recomended Screening:
Research Citation(s):