The surgical approach was preferred due to penetrating trauma mechanism. We achieved low rates of complications and deaths, and neither case could be directly related to kidney damage, and there were patients with multiple lesions. In this sample, we could not observe a direct relationship between kidney damage and complications, deaths or the type of conduct employed.
ObjectiveTo describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive retinal atrophy (PRA) in German Spitzes, and identify the causal gene mutation.AnimalsThirty‐three client‐owned German Spitz dogs were included.ProceduresAll animals underwent a full ophthalmic examination, including vision testing. In addition, fundus photography, ERG, and OCT were performed. A DNA‐marker‐based association analysis was performed to screen potential candidate genes and the whole genomes of four animals were sequenced.ResultsInitial fundus changes were pale papilla and mild vascular attenuation. Oscillatory nystagmus was noted in 14 of 16 clinically affected puppies. Vision was impaired under both scotopic and photopic conditions. Rod‐mediated ERGs were unrecordable in all affected dogs tested, reduced cone‐mediated responses were present in one animal at 3 months of age and unrecordable in the other affected animals tested. Multiple small retinal bullae were observed in three clinically affected animals (two with confirmed genetic diagnosis). OCT showed that despite loss of function, retinal structure was initially well‐preserved, although a slight retinal thinning developed in older animals with the ventral retina being more severely affected. Pedigree analysis supported an autosomal recessive inheritance. A mutation was identified in GUCY2D, which segregated with the disease (NM_001003207.1:c.1598_1599insT; p.(Ser534GlufsTer20)). Human subjects with GUCY2D mutations typically show an initial disconnect between loss of function and loss of structure, a feature recapitulated in the affected dogs in this study.ConclusionWe identified early‐onset PRA in the German Spitz associated with a frameshift mutation in GUCY2D.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.