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Congenital stationary night blindness (CSNB) can be inherited in an X-linked, autosomal dominant, or autosomal recessive pattern, depending on the genes involved. Two forms of CSNB can also affect horses, one linked to the leopard complex of equine coat colors and the other found in certain horse breeds. Both are autosomal recessives.
Congenital stationary night blindness (CSNB) is usually diagnosed based on the owner's observations, but some horses have visibly abnormal eyes: poorly aligned eyes (dorsomedial strabismus) or involuntary eye movement (nystagmus). [8] In horses, CSNB has been linked with the leopard complex color pattern since the 1970s. [9]
Congenital stationary night blindness has been linked with the leopard complex since the 1970s. [14] The presence of CSNB in non-leopard breeds and horses suggested that the two conditions might be located on close, but separate genes.
Homozygous leopards are substantially more prone to congenital stationary night blindness. [9] Congenital stationary night blindness is present at birth and is characterized by impaired vision in dark conditions.
The complete form of congenital stationary night blindness is due to the absence of nyctalopin. [16] This absence is due to a mutation involving an 85 base pair deletion. [ 17 ] In humans, more than 30 mutations are found in the NYX gene and most of them have an impact either on the tertiary structure of the LRR domains of nyctalopin or to ...
Congenital blindness is sometimes used interchangeably with "Childhood Blindness." However, current literature has various definitions of both terms. Childhood blindness encompasses multiple diseases and conditions present in ages up to 16 years old, which can result in permanent blindness or severe visual impairment over time. [ 2 ]
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1 [1] Oguchi disease has an autosomal recessive pattern of inheritance. Specialty: