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Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet (2014) 4.24

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol (2011) 3.79

An optimized fluorescent probe for visualizing glutamate neurotransmission. Nat Methods (2013) 2.75

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nat Neurosci (2008) 2.35

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci (2006) 2.10

In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreous. Sci Transl Med (2013) 1.86

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther (2005) 1.79

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Invest Ophthalmol Vis Sci (2004) 1.77

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Functional and structural modifications during retinal degeneration in the rd10 mouse. Neuroscience (2008) 1.53

Photoreceptor ablation initiates the immediate loss of glutamate receptors in postsynaptic bipolar cells in retina. J Neurosci (2015) 1.47

Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked retinoschisis. Arch Ophthalmol (2010) 1.46

Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectors. PLoS One (2013) 1.33

TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner. J Neurosci (2011) 1.17

Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. Mol Ther (2008) 1.17

Functional remodeling of glutamate receptors by inner retinal neurons occurs from an early stage of retinal degeneration. J Comp Neurol (2009) 1.09

mGluR6 deletion renders the TRPM1 channel in retina inactive. J Neurophysiol (2011) 1.00

Retinoschisin gene therapy in photoreceptors, Müller glia or all retinal cells in the Rs1h-/- mouse. Gene Ther (2014) 0.97

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X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye (Lond) (2011) 0.93

Neuronal remodeling in retinal circuit assembly, disassembly, and reassembly. Trends Neurosci (2014) 0.92

Synaptic remodeling generates synchronous oscillations in the degenerated outer mouse retina. Front Neural Circuits (2014) 0.86

Plasticity of TRPM1 expression and localization in the wild type and degenerating mouse retina. Vision Res (2010) 0.85

Illuminating the multifaceted roles of neurotransmission in shaping neuronal circuitry. Neuron (2014) 0.84

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension (2004) 2.32

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology (2013) 1.99

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain (2007) 1.82

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A (2009) 1.64

Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat (2004) 1.45

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol (2004) 1.40

Retinal bipolar cells: elementary building blocks of vision. Nat Rev Neurosci (2014) 1.39

Functional expression of connexin57 in horizontal cells of the mouse retina. Eur J Neurosci (2004) 1.38

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet (2012) 1.36

Transient neurites of retinal horizontal cells exhibit columnar tiling via homotypic interactions. Nat Neurosci (2008) 1.35

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33

Protein kinase A-mediated phosphorylation of connexin36 in mouse retina results in decreased gap junctional communication between AII amacrine cells. J Biol Chem (2006) 1.33

Developmental patterning of glutamatergic synapses onto retinal ganglion cells. Neural Dev (2008) 1.31

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. Invest Ophthalmol Vis Sci (2003) 1.25

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25

Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina (2004) 1.22

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet (2004) 1.22

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci (2008) 1.21

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci (2007) 1.21

Horizontal cell receptive fields are reduced in connexin57-deficient mice. Eur J Neurosci (2006) 1.14

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat (2009) 1.14

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet (2011) 1.12

Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis (2005) 1.10

Ganglion cell adaptability: does the coupling of horizontal cells play a role? PLoS One (2008) 1.07

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet (2003) 1.07

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther (2013) 1.06

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol (2004) 1.05

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Eur J Hum Genet (2002) 1.03

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet (2008) 1.02

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat (2008) 1.01

A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution. Neuron (2013) 1.01

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet (2010) 0.98

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci (2006) 0.98

Rod and cone contributions to horizontal cell light responses in the mouse retina. J Neurosci (2008) 0.98

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. Hum Mutat (2008) 0.97

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. Eur J Hum Genet (2002) 0.97

Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J Glaucoma (2010) 0.97

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One (2012) 0.96

OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Invest Ophthalmol Vis Sci (2004) 0.96

Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet (2002) 0.94

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis (2012) 0.94

cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina. J Comp Neurol (2010) 0.94

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. Am J Ophthalmol (2008) 0.93

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci (2009) 0.93

Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol Vis (2007) 0.93

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci (2003) 0.93

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci (2004) 0.91

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol (2010) 0.91

Oligocone trichromacy: clinical and molecular genetic investigations. Invest Ophthalmol Vis Sci (2009) 0.90

Diagnostic fundus autofluorescence patterns in achromatopsia. Am J Ophthalmol (2013) 0.90

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy. Exp Neurol (2009) 0.89

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Invest Ophthalmol Vis Sci (2007) 0.89

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology (2010) 0.89

GDF-15: a novel serum marker for metastases in uveal melanoma patients. Graefes Arch Clin Exp Ophthalmol (2011) 0.88

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. J Med Genet (2013) 0.88

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci (2008) 0.87

Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci (2004) 0.87

OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Acta Neuropathol (2005) 0.87

In vivo analysis of cone survival in mice. Invest Ophthalmol Vis Sci (2009) 0.87

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol (2013) 0.86

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. Ophthalmic Genet (2011) 0.86

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC Genet (2010) 0.86

A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Mol Vis (2012) 0.86

Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis (2005) 0.86

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. Hum Genet (2005) 0.86

Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach. Exp Eye Res (2007) 0.86

A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am J Ophthalmol (2009) 0.85

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One (2013) 0.85

Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies. Adv Exp Med Biol (2010) 0.84

GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? Retina (2014) 0.84

Mapping of transcription start sites of human retina expressed genes. BMC Genomics (2007) 0.84

Genes and mutations in autosomal dominant cone and cone-rod dystrophy. Adv Exp Med Biol (2012) 0.83

Light-driven calcium signals in mouse cone photoreceptors. J Neurosci (2012) 0.83

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC Med Genet (2009) 0.83

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Hum Mol Genet (2011) 0.83

BK channels mediate pathway-specific modulation of visual signals in the in vivo mouse retina. J Neurosci (2012) 0.82

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci (2011) 0.82

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat (2010) 0.81

Clinical utility gene card for: Axenfeld-Rieger syndrome. Eur J Hum Genet (2010) 0.81

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. Mol Neurodegener (2010) 0.79

Rod and cone function in patients with KCNV2 retinopathy. PLoS One (2012) 0.78

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Exp Eye Res (2006) 0.77

OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochem Cell Biol (2007) 0.77