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GENATLAS PHENOTYPE
last update : 18-02-2019
Symbol USH4
Location 17q24.2
Name Usher syndrome, type 4
Corresponding gene ARSG
Main clinical features
  • characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement
  • distinctive late-onset retinal phenotype, including ring-shaped retinal atrophy delimiting the vascular arcades temporally and extending beyond the optic nerve nasally, with relative preservation of the mid- and far-periphery
  • ERG testing showed severely decreased rod and mixed cone-rod responses
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    Type disease
    Remark(s)