Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large coh...

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Bibliographic Details
Main Authors: Tan, Mei Hong, Mackay, Donna S., Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J., Wright, Genevieve A., Dev-Borman, Arundhati, Henderson, Robert H., Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E., Robson, Anthony G., Cheetham, Michael E., Thompson, Dorothy A., Webster, Andrew R., Michaelides, Michel, Ali, Robin R., Moore, Anthony T.
Format: Online
Language:English
Published: Public Library of Science 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295755/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295755/

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