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Retinal Degeneration RCD1a
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,
