title: Spotlight on childhood blindness.
abstract: Leber congenital amaurosis (LCA) is a rare disease that severely affects vision in early life. It is characterized by genetic and clinical heterogeneity due to complex and not fully understood pathogenetic mechanisms. It is also now widely known as a disease model for gene therapy. In this issue of the JCI, two independent research groups report valuable new data on LCA. Specifically, they provide important insights into the pathophysiological mechanisms of LCA and offer strong hope that the outcome of gene therapy for retinal degenerative diseases will be successful.
authors: INSERM, U968, Paris, France. j-sahel@quinze-vingts.fr
authors: José-Alain
authors: JA
authors: Sahel
references: PLoS Med. 2006 Jun;3(6):e201
references: 16700630
references: Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7
references: 18809924
references: Am J Hum Genet. 2006 Sep;79(3):556-61
references: 16909394
references: Mol Ther. 2010 Mar;18(3):643-50
references: 19953081
references: N Engl J Med. 2009 Aug 13;361(7):725-7
references: 19675341
references: J Clin Invest. 2011 Jun;121(6):2160-8
references: 21606598
references: Invest Ophthalmol Vis Sci. 2001 Aug;42(9):1955-62
references: 11481257
references: J Cell Biol. 1999 Feb 8;144(3):385-8
references: 9971734
references: Cell. 2000 Jul 21;102(2):175-87
references: 10943838
references: Hum Mutat. 2004 Apr;23(4):306-17
references: 15024725
references: Nat Genet. 2001 May;28(1):92-5
references: 11326284
references: Prog Retin Eye Res. 2008 Jul;27(4):391-419
references: 18632300
references: Am J Ophthalmol. 2007 Dec;144(6):791-811
references: 17964524
references: Am J Hum Genet. 2000 Jan;66(1):319-26
references: 10631161
references: Mol Ther. 2005 Dec;12(6):1072-82
references: 16226919
references: Discov Med. 2010 Nov;10(54):425-33
references: 21122474
references: J Ophthalmol. 2011;2011:753547
references: 21048997
references: Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2352-6
references: 10892883
references: Hum Gene Ther. 2008 Oct;19(10):979-90
references: 18774912
references: Nat Genet. 2007 Jul;39(7):889-95
references: 17546029
references: Nat Genet. 2009 Jun;41(6):739-45
references: 19430481
references: J Clin Invest. 2011 Jun;121(6):2169-80
references: 21606596
references: Hum Gene Ther. 2010 Aug;21(8):993-1004
references: 20384479