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OCULARDISORDERS ProgressiveRetinalAtrophy,(PAP1_PRA) Inbrief Progressive retinal atrophy (PRA) comprises a group of genetically inherited diseases affecting dogs of various breeds. PRA is characterised by retinal degeneration and progressive loss of vision culminating in blindness. PRA is known to affect over 100 breeds. Causative gene mutations have been identified in several breeds, but some of them are still unidentified. PRA affecting the Papillon and Phalène breeds is caused by a mutation in the CNGB1 gene. The disorderisinheritedinanautosomalrecessivemanner. Clinicaloverview InthePapillonandPhalènebreeds,theonsetofclinicalsignsofPRAis typically at 5-6 years of age with initial loss of vision in dim light (night blindness) that gradually progresses to total blindness. The onset of clinical signs is caused by loss of rod photoreceptor cell function, followedbydegenerationofconecells.PRAinthePapillonandPhalène progresses slowly and the affected dogs often maintain adequate daylightvisionthroughouttheirnaturallifespan. References Onlinedatabase Online Mendelian Inheritance in Animals, OMIA (http://omia.angis.org.au/). Faculty of Veterinary Science, University of Sydney. Scientificarticles AhonenSJ,ArumilliM,LohiH.ACNGB1FrameshiftMutationinPapillon and Phalène Dogs with Progressive Retinal Atrophy. PLoS ONE 8:e72122,2013. Diseaseseverity Mild Clinicalsigns Progressiveretinal degeneration Visionimpairment Blindness ModeofInheritance AutosomalRecessive Resultsofthegenetic testarereportedas follows: Clear Carrier Atrisk Mutation(s)foundin: Papillon Phalene