Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

[1]  T. Meitinger,et al.  Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.

[2]  Melissa L. Williams,et al.  Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness , 2006, PLoS medicine.

[3]  W. Hauswirth,et al.  Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

[4]  F. Rieke,et al.  Pharmacological and rAAV Gene Therapy Rescue of Visual Functions in a Blind Mouse Model of Leber Congenital Amaurosis , 2005, PLoS medicine.

[5]  P. D. de Jong,et al.  Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa , 2005, Journal of Medical Genetics.

[6]  G. Fishman,et al.  EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS , 2005, Retina.

[7]  M. Sandberg,et al.  Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. , 2005, Investigative ophthalmology & visual science.

[8]  B. Jones,et al.  Retinal remodeling during retinal degeneration. , 2005, Experimental eye research.

[9]  J. Nathans,et al.  The Genomic Response to Retinal Disease and Injury: Evidence for Endothelin Signaling from Photoreceptors to Glia , 2005, The Journal of Neuroscience.

[10]  T. Aleman,et al.  Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[11]  A. J. Roman,et al.  Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. , 2005, Experimental eye research.

[12]  R. Koenekoop RPGRIP1 is Mutated in Leber Congenital Amaurosis: A Mini-Review , 2005, Ophthalmic genetics.

[13]  R. Koenekoop An overview of Leber congenital amaurosis: a model to understand human retinal development. , 2004, Survey of ophthalmology.

[14]  M. Preising,et al.  Recent advances in early-onset severe retinal degeneration: more than just basic research. , 2004, Trends in molecular medicine.

[15]  Edwin M Stone,et al.  Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. , 2003, Human molecular genetics.

[16]  A. D. den Hollander,et al.  Molecular genetics of Leber congenital amaurosis. , 2002, Human molecular genetics.

[17]  A. Munnich,et al.  Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis , 2001, European Journal of Human Genetics.

[18]  T. L. McGee,et al.  Null RPGRIP1 alleles in patients with Leber congenital amaurosis. , 2001, American journal of human genetics.

[19]  V. Sheffield,et al.  Mutations in the CRB1 gene cause Leber congenital amaurosis. , 2001, Archives of ophthalmology.

[20]  V. Sheffield,et al.  Mutation analysis of 3 genes in patients with Leber congenital amaurosis. , 2000, Archives of ophthalmology.

[21]  A. Cideciyan,et al.  Relation of optical coherence tomography to microanatomy in normal and rd chickens. , 1998, Investigative ophthalmology & visual science.

[22]  A. Milam,et al.  Histopathology of the human retina in retinitis pigmentosa. , 1998, Progress in retinal and eye research.

[23]  C. Distler,et al.  Glia Cells of the Monkey Retina—II. Müller Cells , 1996, Vision Research.

[24]  A. Hendrickson,et al.  Human photoreceptor topography , 1990, The Journal of comparative neurology.