Conditions / Syndrome

oculocutaneous albinism type VII

info ยท Syndrome

An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.

Signs and symptoms

  • Nystagmus
  • Iris transillumination defect
  • Reduced visual acuity
  • Albinism
  • Photophobia
  • High hypermetropia
  • Esotropia
  • Exotropia

Also known as: OCA7