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Basics

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BASICS

Overview!!navigator!!

  • Congenital stationary night blindness is a hereditary disease that affects night (scotopic) vision and in severe cases, may also affect day (photopic) vision. It is nonprogressive, and persists throughout the horse's life. No morphologic abnormalities are seen ophthalmoscopically or by means of light and electron microscopy
  • Systems affected—ophthalmic

Signalment!!navigator!!

  • Most common in the Appaloosa, but also described in the Miniature horse, the Thoroughbred, and the Paso Fino
  • In Appaloosas and Miniature horses, CSNB is associated with the LP and it is likely that other horse breeds where LP spotting is present may be affected as well
  • No sex predilection is known
  • Disease is present at birth and persists throughout life

Signs!!navigator!!

  • Visual impairment in dim light and dark conditions, leading to behavioral uneasiness and unpredictability, despite a normal ophthalmoscopic examination
  • Vision is usually normal in daylight. However, photopic visual impairment has been reported in some cases, and is believed to be a severe form of the disease
  • Dorsomedial strabismus (“star gazing”) and nystagmus may also be present in severely affected animals. Strabismus is not an obvious clinical sign in most cases
  • Unlike CSNB in humans, affected horses have refractive error similar to unaffected horses, and do not suffer from severe myopia (nearsightedness)
  • Owners may report repeated injuries to the horse during the evening hours
  • Most affected horses function very well, and owners may be unaware that their horse is visually impaired. Clinical signs such as apprehension and anxiety in dim light are attributed to behavior and temperament rather than visual impairment

Causes and Risk Factors!!navigator!!

  • A defect in the neural transmission between rod photoreceptors and bipolar cells in the mid-retina is responsible for this disease
  • The rod photoreceptors are responsible for night vision. TRPM1 is important for rod bipolar cells’ depolarization. Decreased expression of TRPM1 in the retina of affected Appaloosas and Miniature horses prevents the depolarization of the rod bipolar cells, which in turn prevents the propagation of the signal to the optic nerve, resulting in night blindness
  • Appaloosas and Miniature horses are affected by CSNB in association with homozygosity of the LP allele (autosomal recessive inheritance)
  • Thoroughbreds and Paso Finos are likely affected by a different genetic mechanism

Diagnosis

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DIAGNOSIS

Differential Diagnosis!!navigator!!

Other congenital and acquired blinding disorders of the retina, optic nerve, and brain have to be ruled out, such as colobomas, retinal detachments, and chorioretinitis. In the latter diseases, the visual impairment is not strictly limited to dim light.

CBC/Biochemistry/Urinalysis!!navigator!!

N/A

Other Laboratory Tests!!navigator!!

N/A

Imaging!!navigator!!

N/A

Other Diagnostic Procedures!!navigator!!

  • The ocular fundi of affected horses appear normal
  • Although there has been advancement in the understanding of the genetic mechanism of CSNB in recent years, the ERG is the only method for definitive diagnosis of the disease. A large negative a-wave potential and absence of b-wave amplitude in the scotopic full-field ERG are the hallmark of this disease and confirm the presence of night blindness. The photopic full-field ERG shows reduced amplitude and increased implicit time of the b-wave. In addition, the ERG oscillatory potentials in horses with CSNB are attenuated when compared with normal controls
  • Genetic testing for the LP gene in Appaloosas is commercially available

Pathologic Findings!!navigator!!

Histologic and electron microscopic examination of the affected retinas are normal.

Treatment

TREATMENT

None

Medications

MEDICATIONS

N/A

Follow-up

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FOLLOW-UP

Prevention/Avoidance!!navigator!!

Affected horses should not be used for breeding. However, since owners of most horses affected with CSNB are unaware of the disease, and owing to the recessive inheritance, genetic exclusion of the disease is unlikely.

Expected Course and Prognosis!!navigator!!

Horses can undergo training and perform well during the day. Training and handling of these horses should be performed in a well-lit environment to assure the safety of horses and handlers.

Miscellaneous

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MISCELLANEOUS

Abbreviations!!navigator!!

  • CSNB = congenital stationary night blindness
  • ERG = electroretinogram
  • LP = leopard printing (leopard complex spotting pattern gene)
  • TRPM1 = transient receptor potential cation channel subfamily M member 1

Internet Resources!!navigator!!

Animal Genetics, Appaloosa Coat Pattern—Leopard Print and Congenital Stationary Night Blindness (CSNB). http://www.animalgenetics.us/Equine/Coat_Color/Appaloosa.asp The Appaloosa Project. http://www.appaloosaproject.co

Suggested Reading

Sandmeyer LS, Bellone RR, Archer S, et al. Congenital stationary night blindness is associated with the leopard complex in the Miniature horse. Vet Ophthalmol 2012;15:1822.

Author(s)

Author: Gil Ben-Shlomo

Consulting Editor: Caryn E. Plummer

Acknowledgment: The author and editor acknowledge the prior contribution of Andras M. Komaromy and Dennis E. Brooks.