Leber congenital amaurosis 1

Synonyms

Amaurosis congenita of Leber, type 1
Retinal blindness, congenital CRB
Leber congenital amaurosis type 1

Overview

A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.

Symptoms

  • Retinal dysfunction
  • Nystagmus
  • Poking own eyes
  • Blindness
  • Sensitivity to light

Causes

  • Trauma
  • Multiple sclerosis
  • Congenital
  • Vertigo
  • Acute labyrinthitis
  • Medications
  • Stroke