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USHER
SYNDROME (VESTIBULOCERBELLAR ATAXIA)
It is a rare genetic condition caused by a mutation in any one
of at least 11 genes resulting in a combination of visual impairment and
hearing loss. Usher syndrome is characterized by partial or total loss of
hearing loss and vision.
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Causes:
·
Autosomal ressive
Type 1 – CDH23, MY07A, PCDH15, USH1C, USH1G
Type II – USH2A, GPR98
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Characteristics:
·
Type I –
Retinitis Pigmentosa
·
Vestibular
dysfunction
·
Profound
hearing loss
·
Type II –
Retinitis pigmentosa
·
Sloping hearing
loss (Variable degree)
·
Type III –
Retinitis Pigmentosa
·
Vestibular
dysfunction
·
Initially
normal hearing or mild loss
·
Then, hearing
loss progresses
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Hearing Loss
·
Sensory neural
(Congenital in Type I & II)
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