Amaurosis hypertrichosis

Overview

Amaurosis hypertrichosis is a rare syndrome characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness, associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair .

Symptoms

  • Thick eyelashes
  • Nystagmus
  • Edema-papilloedema
  • Severe retinal dystrophy
  • Severe vision loss
  • Synophyrys
  • Excessive facial hair
  • Excessive body hair
  • Coarse hair
  • Hypermetropia
  • Long eyelashes
  • Severe photophobia
  • Trichomegaly
  • Bushy eyebrows