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Progressive Rod-Cone Degeneration (PRA-PRCD)

Progressive Rod-Cone Degeneration (PRA-PRCD)

Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration, PRCD

Progressive Retinal Atrophy (PRA) is a category of different progressive conditions related to retinal atrophy that can eventually lead to blindness. Progressive Rod-Cone Degeneration (PRA-PRCD) is one specific type of PRA that affects many dog breeds. It is an inherited eye disease with late onset of symptoms that are due to degeneration of both rod and cone cells of the retina. These cells are important for vision in dim and bright light. Most dogs begin to show symptoms of the disease at approximately 3-5 years of age which manifests as difficulty seeing at night (night blindness) and loss of peripheral vision. Although the rate of onset and disease progression can vary by breed, PRA-PRCD typically results in eventual loss of sight and complete blindness in affected dogs.

Reading Your Results

A. (CLEAR/NORMAL):

These dogs have two copies of the normal gene and will neither develop Progressive Rod-Cone Degeneration nor pass this mutation to their offspring.

B. (CARRIER/NOT AFFECTED):

These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Progressive Rod-Cone Degeneration and will, if bred, pass the mutation to 50% of its offspring, on average.

C. (AT RISK/AFFECTED):

These dogs have two copies of the mutation associated with Progressive Rod-Cone Degeneration which typically results in eventual loss of sight and complete blindness.

Additional Details

Inheritances

Autosomal Recessive

Affected gene

PRCD

Chromosome

Ch. 9

Mutation

Chr9:4188663 (CanFam3): G>A

Publication:

Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 2006 Nov; 88(5):551-63. [PubMed: 16938425]