Electroretinographic findings in the Standard Wire Haired Dachshund with inherited early onset cone–rod dystrophy

Ropstad, Ernst-Otto; Bjerkås, Ellen; Narfström, Kristina

doi:10.1007/s10633-006-9035-8

Cited by 20 publications

(18 citation statements)

References 12 publications

(27 reference statements)

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“…The size of the deletion in NPHP4 and the colocalization and interaction with RPGRIP1 may explain why this mutation is causing pure crd and why this disease found in the SWHDs is relatively similar to the one found in MLHD, which has a RPGRIP1 mutation. Time of onset of the initial crd in the affected SWHDs varied from 10 mo to 3 yr of age, with a complete retinal atrophy evident within 6 yr (Ropstad et al 2007a). The most characteristic opthalmoscopic changes were initial cellophane-like increase in tapetal sheen and marked pigment migration in the nontapetal fundus.…”

Section: Discussionmentioning

confidence: 99%

“…The standard wire-haired dachshund (SWHD), the miniature long-haired dachshund (MLHD), and the pit bull terrier (PBT) are the only dog breeds to date known to be affected by crd (Kijas et al 2004;Mellersh et al 2006;Ropstad et al 2007a). A mutation in canine RPGRIP1 has been demonstrated to cause autosomal recessive crd in MLHDs (Mellersh et al 2006), while the genetic basis of the crd found in the PBT is still unknown (Kijas et al 2004).…”

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confidence: 99%

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A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

Wiik¹,

Wade²,

Biagi³

et al. 2008

Genome Res.

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Cone-rod dystrophy is a retinal degenerative disorder occurring naturally in man and dog. Here we identify a novel gene for early-onset cone-rod dystrophy in the wire-haired dachshund. For the first time, we use genome-wide association-based Sibling Transmission Disequilibrium Test (sibTDT) analysis of only 13 discordant sib-pairs to identify a single significantly associated 6.5-Mb region (PrawTDT = 4.8 × 10−5, PgenomeTDT = 6 × 10−4) on canine chromosome 5, containing more than 70 genes. Segregation studies using microsatellites in the candidate region including additional meiosis supported the sibTDT analysis but could not further reduce the area. Candidate gene resequencing identified a 180-bp deletion in exon/intron 5 of NPHP4 (nephronophthisis 4, also known as nephroretinin). RT-PCR analysis of NPHP4 in cases and controls showed exon skipping of exon 5, resulting in a truncated protein that retains the binding domain interacting with nephronophthisis 1 (also known as nephrocystin-1) in the kidney but lacks the domain interacting with RPGRIP1 in retina. We suggest that this deletion in the canine NPHP4 gene is the cause of cone-rod dystrophy in the standard wire-haired dachshund. In humans, mutations in NPHP4 have been associated with simultaneous eye and kidney disease. Here we describe the first naturally occurring mutation in NPHP4 without additional kidney disease. Further studies will permit elucidation of the complex molecular mechanism of this retinopathy and the development of potential therapies.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

Wiik¹,

Wade²,

Biagi³

et al. 2008

Genome Res.

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“…The gene product's precise role is not currently understood but it is thought to anchor regulatory complexes at the photoreceptor connecting cilium, which acts as a bridge between the inner and outer segments of photoreceptor cells [43] as well as having functions in disk morphogenesis [42] and in the structure of the ciliary axoneme [44]. RPGRIP1 also interacts with NPHP4, a gene that has been associated with a genetically distinct form of early-onset CRD segregating in the standard wire-haired variety of Dachshund [45][46][47][48][49]. Within the research colony of MLHDs there was complete correlation between the RPGRIP1 genotype and phenotype of the dogs with respect to their CORD1 phenotype whereas in the pet MLHD population this was not the case [50].…”

Section: Cone-rod Degenerationsmentioning

confidence: 99%

Genetics of eye disorders in the dog.

Mellersh¹

2012

The Genetics of the Dog

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Inherited forms of eye disease are arguably the best described and best characterized of all inherited diseases in the dog, at both the clinical and molecular level and at the time of writing 29 different mutations have been documented in the scientific literature that are associated with an inherited ocular disorder in the dog. The dog has already played an important role in the identification of genes that are important for ocular development and function as well as emerging therapies for inherited blindness in humans. Similarities in disease phenotype and eye structure and function between dog and man, together with the increasingly sophisticated genetic tools that are available for the dog, mean that the dog is likely to play an ever increasing role in both our understanding of the normal functioning of the eye and in our ability to treat inherited eye disorders. This review summarises the mutations that have been associated with inherited eye disorders in the dog.Lay summary

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“…The ERG is the most important objective electrophysiological method used to evaluate retinal function in humans and animals (Ofri, 2002) and has the advantage to be a noninvasive technique. ERG is useful tool for early diagnosis of the most common retinopathies such as inherited progressive retinal atrophy (PRA), sudden acquired retinal degeneration (SARD) and optic neuritis (Narfström, 2013); as well as for monitoring of therapeutic responses and retinal toxicity of new drugs (Ropstad et al, 2007). It is also tremendously useful when performed to evaluate retinal integrity before cataract surgery (Ekesten, 2013;Wilkie and Colitz, 2013).…”

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confidence: 99%