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Progressive Retinal Atrophy generalized (gPRA)

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Progressive Retinal Atrophy generalized (gPRA)
Mutation
c.521_522InsA
Test Type
Genetic Disease/Disorder
Details
gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA between 2-5 years. Early in the disease, affected dogs are night-blind, progressing to full blindness within 2 years.
Details 2
gPRA is transmitted in an AR manner. gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years. (Lippmann et al, 2007)
Published
Lippmann, T., Jonkisz, A., Dobosz, T., Petrasch-Parwez, E., Epplen, JT., Dekomien, G. : Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis 13:174-80, 2007. Pubmed reference: 17327822.
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