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Progressive Retinal Atrophy generalized (gPRA)
Breed: Portuguese Water Dog/ Cão de Agua Português
Generic Phene Data
Breeds
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GTPs
General
Disease Name
Progressive Retinal Atrophy generalized (gPRA)
OMIA
1521
Gene Name
CCDC66
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.
Published 2
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boevé, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics 11:163-74, 2010. Pubmed reference: 19777273. DOI: 10.1007/s10048-009-0223-z.
Published 3
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Schapendoes
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
EOPRA
Gene Name
CCDC66
Mutation
c.2262_c.2263insA
Mutation Comment
g.33717704_33717705insT
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