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Progressive Retinal Atrophy, X-linked Type 2
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Progressive Retinal Atrophy, X-linked Type 2
OMIA
1518
Gene Name
ORF15 of RPGR
Mutation
c.1084_1085
Test Type
Genetic Disease/Disorder
Details
Early-onset type of X-linked PRA. First signs as early as 4 weeks, show abnormal development which ay be detectable by an ophthalmologist. Vision loss may be noticeable at 6-7 weeks of age, then significantly worsening by 12 weeks. The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
Details 2
An early-onset X-linked PRA. Abnormal development of photoreceptors was recognizable as early as 4 weeks of age. The proportion of dying photoreceptors peaked at approximately 6 to 7 weeks of age and was significantly reduced after 12 weeks. XLPRA2 is an early-onset model of XLRP (1) that is characterized by abnormal photoreceptor maturation followed by progressive rod?cone degeneration and early inner retina remodeling. (Beltran et al. 2006) The X-linked inheritance means the risks of developing the disease effect males and females differently. Females who inherit the defective gene from one parent and a normal gene from another parent (carriers) won't be affected, but may have subtle defects that don't normally impact vision. Male pups who inherit the defective gene from the dams will be effected (there aren't male "carriers") Special breeding advice should be sought, if you are unfamiliar with X-link disease inheritance.
Published
Zhang, Q., Acland, GM., Wu, WX., Johnson, JL., Pearce-Kelling, S., Tulloch, B., Vervoort, R., Wright, AF., Aguirre, GD. : Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11:993-1003, 2002. Pubmed reference: 11978759.
Published 2
Beltran, WA., Hammond, P., Acland, GM., Aguirre, GD. : A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 47:1669-81, 2006. Pubmed reference: 16565408. DOI: 10.1167/iovs.05-0845.
Published 3
Genini, S., Guziewicz, K.E., Beltran, W.A., Aguirre, G.D. : Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014. Pubmed reference: 24581223. DOI: 10.1186/1471-2164-15-172.
Body/System/Process
Eye
OMIA Url
Inheritance
X
