Leber congenital amaurosis 3

Synonyms

2

Overview

Leber congenital amaurosis 3 (LCA3) is 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 3 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 14q23.3, RDH12 gene. 

Symptoms

  • Retinal dysfunction
  • Nystagmus
  • Blindness
  • Sensitivity to light
  • Impaired vision
  • Slow pupil response

Prognosis

Prognosis of Leber congenital amaurosis 3 is blindness by early adulthood.