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Leber’s Congenital Amaurosis and Gene Therapy

  • Review Article
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Abstract

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.

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Authors and Affiliations

  1. Retina and Uvea Services, Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India

    Brijesh Takkar, Pooja Bansal & Pradeep Venkatesh

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  1. Brijesh Takkar
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  2. Pooja Bansal
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  3. Pradeep Venkatesh
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Correspondence to Pradeep Venkatesh.

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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.

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Takkar, B., Bansal, P. & Venkatesh, P. Leber’s Congenital Amaurosis and Gene Therapy. Indian J Pediatr 85, 237–242 (2018). https://doi.org/10.1007/s12098-017-2394-1

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  • DOI: https://doi.org/10.1007/s12098-017-2394-1

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