The Indian Journal of Pediatrics

, Volume 85, Issue 3, pp 237–242 | Cite as

Leber’s Congenital Amaurosis and Gene Therapy

  • Brijesh Takkar
  • Pooja Bansal
  • Pradeep Venkatesh
Review Article


Retinal blindness is an important cause of pediatric visual loss. Leber’s congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy. This review discusses in brief the clinical presentation and investigative modalities used in LCA. Further, the road to gene discovery and details of currently applied gene therapy are presented. LCA is one of the first successfully managed human diseases and offers an entirely new dimension in ocular therapeutics.


Leber's congenital amaurosis Gene therapy Pediatric blindness 



All the authors contributed to concept and outline of the review. BT and PV wrote and critically revised the manuscript, BT and PB performed the review of literature. PV will act as guarantor for the paper.

Compliance with Ethical Standards

Conflict of Interest


Source of Funding



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Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Brijesh Takkar
    • 1
  • Pooja Bansal
    • 1
  • Pradeep Venkatesh
    • 1
  1. 1.Retina and Uvea Services, Dr R P Centre for Ophthalmic SciencesAll India Institute of Medical SciencesNew DelhiIndia

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