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Retinal Degeneration RCD1a

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Test Overview:

Rod/cone dysplasia 1 (rcd1 Progressive Retinal Atrophy) observed in the Irish Setter breed, is an autosomal recessive trait leading to progressive loss of photoreceptors. While rod photoreceptor degeneration is evident by 1 month of age, vision loss is typically completed by about 1 year of age. Rcd1 is caused by a nonsense mutation in the cGMP phosphodiesterase gene ( G - A transition converting TGG to TAG at codon 807 of the protein). This mutation creates a premature stop codon that truncates the PDE6???? protein, which is required for posttranslational processing and membrane association.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Beta subunit of the cGMP phosphodiesterase gene (PDE6B) on chromosome 3

Variant Detected:

c.2415 G>A p.Tyr807stop

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

Research Citation(s):

Suber ML et al Proc Nat Acad USA. 1993 90:3968–3972

Associated Breed(s):

Mixed Breed, Sloughi,

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