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rcd4-PRA (Late Onset) - SINGLE ASSAY TEST Overview

rcd4-PRA (Late Onset) - SINGLE ASSAY TEST
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: C2orf71 on Chromosome 17

Variant Detected: c.3149_3150insC p.Cys1051ValfsX90

Severity: Scale 2 has a low degree of severity. It has mild effects and generally does not pose any significant health concerns, or is easily managed.

Mode of Inheritance: Autosomal Recessive with Incomplete Penetrance

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.

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]


Associated Breed(s): Irish Setter,  Polish Lowland Sheepdog,  Gordon Setter ,  Australian Cattle Dog,  English Setter ,  Miniature Poodle,  Standard Poodle,  Australian Cobberdog,  Australian Labradoodle ,  Labradoodle ,  Labradoodle Retrodoodle ,  Groodle,  Goldendoodle,  Japanese Spitz,  Tibetan Terrier ,  Red and White Setter,