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Retinal Degeneration RCD1a Overview

Retinal Degeneration RCD1a
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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: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

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.

Research Citation(s): Suber ML et al Proc Nat Acad USA. 1993 90:3968–3972

Associated Breed(s): Mixed Breed,  Sloughi,