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Irish Setter PRA Type 1 (PRA-RCD1)

Irish Setter PRA Type 1 (PRA-RCD1)

Progressive Retinal Atrophy (Irish Setter Type), Rod-Cone Dysplasia 1, PRA-rcd1

Progressive retinal atrophy (PRA) in Irish Setters is an early-onset inherited eye disease and can be due to more than a single mutation. One form of PRA in Irish Setters is referred to as Rod-Cone Dysplasia Type 1 (PRA-RCD1) and occurs as a result of degeneration of both rod and cone cells of the retina which are important for vision in dim and bright light. Symptoms can be recognized as early as a few weeks of age and progressive degeneration can continue for up to a year. The first signs of the disease typically present around 1 month of age with vision loss in dim light also known as night blindness. Dogs will typically show complete loss of night vision by about 5 months and difficulty with vision in bright light. Although there can be variation in disease progression, most dogs typically exhibit a rapid progression with total loss of sight by approximately 1 year of age.

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These dogs have two copies of the normal gene and will neither develop Irish Setter PRA Type 1 nor pass this mutation to their offspring.


These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Irish Setter PRA Type 1 and will, if bred, pass the mutation to 50% of its offspring, on average.


These dogs have two copies of the mutation associated with Irish Setter PRA Type 1 which can result in reduced vision and total loss of sight.

Additional Details


Autosomal Recessive

Affected gene



Ch. 3


Chr3:91747714 (CanFam3): G>A


Suber ML, Pittler SJ, Qin N, Wright GC, Holcombe V, Lee RH, Craft CM, Lolley RN, Baehr W, Hurwitz RL. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci U S A. 1993 May 1; 90(9):3968-72. [PubMed: 8387203]

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