Congenital stationary night blindness in a Thoroughbred and a Paso Fino

Nunnery, Catherine; Pickett, J. Phillip; Zimmerman, Kurt

doi:10.1111/j.1463-5224.2005.00416.x

Cited by 33 publications

(28 citation statements)

References 14 publications

(52 reference statements)

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“…The a‐wave of the ERG represents the photoreceptor response to light stimulation, while the b‐wave directly relates to bipolar cell activity 23 . The dark‐adapted ERG recordings in the Miniature horse in this study were characteristic and similar to those reported previously in CSNB‐affected horses 1–6 . In this study, however, our main purpose was to confirm a diagnosis of CSNB‐affected Miniature horses rather than study the ERG characteristics with more in‐depth protocols.…”

Section: Discussionsupporting

confidence: 69%

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Congenital stationary night blindness is associated with the leopard complex in the miniature horse

Sandmeyer¹,

Archer²,

Bauer³

et al. 2011

Veterinary Ophthalmology

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Section: Discussionsupporting

confidence: 69%

“…Congenital stationary night blindness (CSNB) is a nonprogressive inherited condition reported most commonly in the Appaloosa horse 1–5 . This condition has also been described in the Paso Fino and Thoroughbred breeds 6 . CSNB is characterized by impaired vision in dark conditions, and is present at birth 6 .…”

Section: Introductionmentioning

confidence: 99%

Congenital stationary night blindness is associated with the leopard complex in the miniature horse

Sandmeyer¹,

Archer²,

Bauer³

et al. 2011

Veterinary Ophthalmology

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“…Mutations in human nyctalopin ( NYX ) cause X-linked forms of CSNB [36] likely by the loss of localization of TRPM1 to depolarizing cell dendrites [37,38] and thus NYX may explain other forms of CSNB in the horse unrelated to LP [39]. TRPM1 has also been localized to the synaptic ribbons of rods and melanopsin-expressing photosensitive retinal ganglion cells [40,41] suggesting yet undiscovered roles for this gene in vision.…”

Section: Discussionmentioning

confidence: 99%

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

et al. 2013

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Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ2=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder.

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“…Affected animals characteristically show poor vision in dim light and normal vision in bright light, but a wide variation in the severity of visual deficits has been observed (Nunnery et al 2005; Witzel et al 1978). More recently clinical diagnosis of CSNB has been reported in the Danish Knabstrupper (de Linde Henriksen et al 2007).…”

Section: Simple Genetic Diseases Of the Domestic Horsementioning

confidence: 99%

Equine clinical genomics: A clinician's primer

Brosnahan

Brooks

Antczak³

2010

Equine Veterinary Journal

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Summary The objective of this review is to introduce equine clinicians to the rapidly evolving field of clinical genomics with a vision of improving the health and welfare of the domestic horse. For fifteen years a consortium of veterinary geneticists and clinicians has worked together under the umbrella of The Horse Genome Project. This group, encompassing 22 laboratories in 12 countries, has made rapid progress, developing several iterations of linkage, physical and comparative gene maps of the horse with increasing levels of detail. In early 2006, the research was greatly facilitated when the U.S. National Human Genome Research Institute of the National Institutes of Health added the horse to the list of mammalian species scheduled for whole genome sequencing. The genome of the domestic horse has now been sequenced and is available to researchers worldwide in publicly accessible databases. This achievement creates the potential for transformative change within the horse industry, particularly in the fields of internal medicine, sports medicine and reproduction. The genome sequence has enabled the development of new genome-wide tools and resources for studying inherited diseases of the horse. To date, researchers have identified eleven mutations causing ten clinical syndromes in the horse. Testing is commercially available for all but one of these diseases. Future research will probably identify the genetic bases for other equine diseases, produce new diagnostic tests and generate novel therapeutics for some of these conditions. This will enable equine clinicians to play a critical role in ensuring the thoughtful and appropriate application of this knowledge as they assist clients with breeding and clinical decision-making.

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Congenital stationary night blindness in a Thoroughbred and a Paso Fino

Cited by 33 publications

References 14 publications

Congenital stationary night blindness is associated with the leopard complex in the miniature horse

Congenital stationary night blindness is associated with the leopard complex in the miniature horse

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

Equine clinical genomics: A clinician's primer

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