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Indian Journal of Pediatrics
Erschienen in: The Indian Journal of Pediatrics 3/2018

07.07.2017 | Review Article

Leber’s Congenital Amaurosis and Gene Therapy

Erschienen in: Indian Journal of Pediatrics | Ausgabe 3/2018

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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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Metadaten
Titel
Leber’s Congenital Amaurosis and Gene Therapy
Publikationsdatum
07.07.2017
Erschienen in
Indian Journal of Pediatrics / Ausgabe 3/2018
Print ISSN: 0019-5456
Elektronische ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-017-2394-1

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