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rcd4-PRA (Late Onset)*

rcd4-PRA (Late Onset)*

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Test Overview:

an inherited eye disease affecting dogs. PRA-crd4 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age. However, age of onset varies significantly in PRA-crd4 affected dogs, and has been reported from 1 to 15 years of age. Mutations in the RPGRIP1 gene show Incomplete Penetrance, meaning that not all dogs inheriting two copies of the Mutation develop clinical disease. This suggests that other unknown genetic or environmental factors may play a role in modifying disease development and progression.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

C2orf71 on Chromosome 17

Variant Detected:

c.3149_3150insC p.Cys1051ValfsX90

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive with Incomplete Penetrance

Research Citation(s):


Vet Ophthalmol. 2011 May;14(3):146-52. [Pubmed:21521437] [PubMed: 21521437]
Genomics. 2006 Sep; 88(3):293-301. [PubMed: 16806805]
Mol Vis. 2009 Nov 11; 15:2287-305. [PubMed: 19936303]
Stem Cells Int. 2012;2012:685901. [PubMed: 22550515]

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