title: Retinal degeneration in nine Swedish Jämthund dogs.
abstract: The Jämthund is the fourth most common breed in Sweden with approximately 1600 pups registered each year. Although it has been known that some adult dogs go blind, so they cannot hunt, the Jämthund dog has historically not been screened for hereditary eye diseases. This report describes nine Swedish Jämthund dogs with retinal degeneration. These dogs represent all Jämthund dogs diagnosed with progressive retinal atrophy (PRA) by the Swedish Eye Panel and registered with the Swedish Kennel Club from January 1998 to September 2008. The dogs were examined with indirect opthalmoscopy and slitlamp biomicroscopy. Additionally, electroretinograms (ERGs) following ECVO guidelines were performed in two dogs (one affected and one normal) and the eyes from three affected dogs were examined by light-microscopy postmortem. Typical findings were bilateral symmetric generalized retinal degeneration with tapetal hyper-reflectivity, attenuation of blood vessels and pigment clumping in the nontapetal fundus. These retinal findings progressed with time in two dogs after re-examination. Visual impairment, especially under dim light conditions, was observed in the affected dogs. ERG from one affected dog showed profoundly reduced rod responses, whereas cone responses were better preserved. Microscopic changes in the eyes from three dogs were characterized by a severe diffuse predominantly outer retinal degeneration and atrophy. Re-sequencing of the prcd-gene for eight of the nine investigated dogs revealed that none of the individuals carried disease allele that has been associated with prcd-PRA in other breeds. In conclusion, ophthalmoscopic, electroretinographic, and light-microscopic alterations observed in nine Jämthund dogs were compatible with PRA. The prcd mutation was excluded as a cause of this retinopathy.
authors.affiliation: University Animal Hospital, Swedish University of Agricultural Sciences, PO Box 7040, S-750 07 Uppsala, Sweden. Eva.Hertil@uds.slu.se
authors.forename: Eva
authors.initials: E
authors.lastname: Hertil
authors.forename: Tomas
authors.initials: T
authors.lastname: Bergström
authors.forename: Ulle
authors.initials: U
authors.lastname: Kell
authors.forename: Lena
authors.initials: L
authors.lastname: Karlstam
authors.forename: Stina
authors.initials: S
authors.lastname: Ekman
authors.forename: Björn
authors.initials: B
authors.lastname: Ekesten
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology*; D004285:Dogs; D005260:Female; D005820:Genetic Testing; D008297:Male; D010375:Pedigree; D012164:Retinal Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D013548:Sweden / Q000453:epidemiology