Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine

Exp Eye Res. 2019 Dec:189:107834. doi: 10.1016/j.exer.2019.107834. Epub 2019 Oct 19.


Retinal dystrophies are one of the leading causes of pediatric congenital blindness. Leber's congenital amaurosis (LCA) encompasses one of the most severe forms of inherited retinal dystrophy responsible for early-onset childhood blindness in infancy. These are clinically characterized by nystagmus, amaurotic pupil response and markedly reduced or in most instances completely absent full-field electroretinogram. LCA exhibits immense genetic heterogeneity. With advances in next-generation genetic technologies, tremendous progress has been achieved over the last two decades in discovering genes and genetic defects leading to retinal dystrophies. Currently, 28 genes have been implicated in the pathogenesis of LCA and with initial reports of success in management with targeted gene therapy the disease has attracted a lot of research attention in the recent time. The review provides an update on genetic basis of LCA, scope for genetic testing and pharmacogenetic medicine in diagnosis and treatment of these diseases.

Keywords: Genetic-testing; Genetics; Inherited retinal dystrophies; Leber congenital amaurosis (LCA); Next-generation sequencing; Pharmacogenetic medicine; Retinal degenerative disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Genetic Testing / methods*
  • Genetic Therapy / methods*
  • Humans
  • Leber Congenital Amaurosis / diagnosis
  • Leber Congenital Amaurosis / genetics*
  • Leber Congenital Amaurosis / therapy
  • Mutation
  • Precision Medicine / methods*


  • Eye Proteins