Possibly relevant human trait(s) and/or gene(s) (MIM number): 613810

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific symbol: rcd3

History: The first report of this disorder was by Keep (1972).

Mapping: The first step in the investigation of Petersen-Jones et al. (1999) was to show that the canine PDE6A gene co-segregates with the disorder.

Molecular basis: By mapping, cloning and sequencing a very likely comparative candidate gene (based on information concerning closely related genes associated with similar disorders in humans and dogs), Petersen-Jones et al. (1999) showed that the molecular basis of this particular type of progressive retinal atrophy is the deletion of a single base in codon 616 of the gene for the alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A), which is "predicted to lead to a frame shift resulting in a string of 28 altered codons followed by a premature stop codon".

Breed: Cardigan Welsh Corgi.

Associated gene: