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Progressive Retinal Atrophy Autosomal Dominant (ADPRA)

Breed: Bullmastiff

Generic Phene Data

General

Disease Name
Progressive Retinal Atrophy Autosomal Dominant (ADPRA)
Disease Name 2
ADPRA
OMIA
1346
Gene Name
RHO
Mutation
c.11C>G
Mutation 2
p.Thr4Arg
OMIM
610445
Disease Code
ADPRA
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Autosomal Dominant PRA
Details
As detailed by Kijas et al. (2002), vision is normal for the first few months, but by 12-18 months, vision loss is spreading slowly with particular problems for the dog moving between different light levels. Homozygotes (two copies of the abnormal gene) have more severe clinical signs than heterozygotes (one copy of the abnormal gene).
Details 2
From Kijas et al. (2002), rod vision is normal for at least the first few months. But by 12-18 months, degeneration is evident, spreading slowly from a disease focus in one retinal region. In addition, there is an abnormally slow recovery of rod photoreceptor function after exposure to light. Homozygotes have more severe clinical signs than heterozygotes.
Published
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered 94:27-30, 2003. Pubmed reference: 12692159.
Published 2
Iwabe, S., Ying, G.S., Aguirre, G.D., Beltran, W.A. : Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog. Exp Eye Res 146:341-353, 2016. Pubmed reference: 27085210. DOI: 10.1016/j.exer.2016.04.006.
Body/System/Process
Eye
Inheritance
AD
Gene Name Text
rhodopsin

Breed Specific Data

GenSol Diagnostics

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)

Genomia s.r.o

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
p.Thr4Arg
Nature of test
mutation test

VetGen LLC

Link to GTP
Breed
Gene Name
Rho
Mutation
c.11C>G

EVG Diagnostics

Link to GTP
Breed
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proc Natl Acad Sci U S A. 2002 Apr 30; 99(9): 6328?6333.

Wisdom Health (formerly Mars Veterinary)

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

VHL Genetics

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

Paw Print Genetics

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

OptiGen

Link to GTP
GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

Laboklin Gmbh & Co. KG

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

Genoscoper Laboratories Oy

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

Embark

Link to GTP
GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

DNA My Dog

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD

CAG GmbH Center for Animal Genetics

Link to GTP
Breed
GTP Disease Name
Autosomal Dominant PRA
Gene Name
RHO
Mutation
c.11C>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kijas, JW., Miller, BJ., Pearce-Kelling, SE., Aguirre, GD., Acland, GM.: Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff
Application in the Breed
Affected animals (n/ADPRA, ADPRA/ADPRA) should not be used for breeding. Difficulties seeing in low light and loss of peripheral vision (18 months of age). Total blindness ( homozygous faster progression)
Inheritance
AD
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