Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2016
Symbol LCA16
Location 2q37.1
Name Leber congenital amaurosis, type 16
Corresponding gene KCNJ13
Main clinical features
  • poor night vision and difficulty reading print from an early age with gradual progression of visual problems affecting central and peripheral vision
  • funduscopy revealed significant pigment in the retinal pigment epithelium
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease