Novel XXXX in related Gordon setters: a clinical, behavioral, electrophysiological, and genetic investigation.

@entity227 @entity73294 @entity235 @entity73292 @entity409 @entity6391 @entity73293 @entity989 @entity3641
PURPOSE: To conduct ophthalmic, behavioral, electrophysiological, and genetic testing on two related Gordon setters presented for @entity227 and compare findings with those of nine related and unrelated Gordon setters. METHODS: All @entity235 underwent comprehensive ophthalmic examination. Maze testing was conducted under different light intensities. Rod and cone function was assessed electroretinographically. DNA samples were screened for five @entity235 retinal disease gene mutations. RESULTS: Ophthalmic examination was unremarkable in all @entity235 . There was no notable difference between day blind @entity235 and the reference population in scotopic and mesopic maze tests. Day blind @entity235 performed worse in the photopic maze with slower course completion time and more obstacle collisions. Electroretinography revealed extinguished cone function in day blind @entity235 and depressed rod responses in all but two reference @entity235 . One reference population @entity235 presented with @entity227 1 year after initial examination. Mutations that cause @entity3641 (in @entity73292 ) and @entity6391 (in @entity73293 and @entity73294 ) were not detected in any @entity235 tested, although five reference @entity235 were carriers of the mutation in C2orf71 that causes rod-cone degeneration 4 (rcd4) in Gordon setters and in polski owczarek nizinny @entity235 . CONCLUSIONS: This report describes a novel @entity989 in related Gordon setters that has clinical signs and vision testing results consistent with @entity3641 but electroretinographic results suggestive of @entity6391 . The majority of Gordon setters in this study had low rod responses on electroretinography but it is unclear whether this was indicative of @entity409 or normal for the breed. Longer-term observation of affected individuals is warranted.
