Published in Curr Eye Res on January 01, 2010
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. Invest Ophthalmol Vis Sci (2015) 0.88
Early diagnosis of Stargardt disease with multifocal electroretinogram in children. Int Ophthalmol (2013) 0.79
Test-Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial. Transl Vis Sci Technol (2016) 0.76
Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet (2005) 4.91
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers. PLoS Genet (2009) 4.22
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet (2004) 2.58
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis. Mol Ther (2005) 2.27
Rescue of retinal degeneration by intravitreally injected adult bone marrow-derived lineage-negative hematopoietic stem cells. J Clin Invest (2004) 2.13
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Proc Natl Acad Sci U S A (2003) 2.07
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci (2006) 2.05
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet (2005) 2.04
Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases. Invest Ophthalmol Vis Sci (2005) 1.97
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation. Invest Ophthalmol Vis Sci (2008) 1.96
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet (2002) 1.62
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet (2006) 1.58
Mouse model of subretinal neovascularization with choroidal anastomosis. Retina (2003) 1.52
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci U S A (2002) 1.51
Mouse models of age-related macular degeneration. Exp Eye Res (2005) 1.49
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet (2013) 1.39
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet (2012) 1.38
Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat Genet (2003) 1.36
Identification of DES1 as a vitamin A isomerase in Müller glial cells of the retina. Nat Chem Biol (2012) 1.35
X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics (2002) 1.34
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. BMC Genet (2004) 1.27
Retinoid content, visual responses, and ocular morphology are compromised in the retinas of mice lacking the retinol-binding protein receptor, STRA6. Invest Ophthalmol Vis Sci (2012) 1.27
The role of interphotoreceptor retinoid-binding protein on the translocation of visual retinoids and function of cone photoreceptors. J Neurosci (2009) 1.25
C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One (2008) 1.22
Contrast sensitivity and color vision in HIV-infected individuals without infectious retinopathy. Am J Ophthalmol (2006) 1.21
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol (2011) 1.19
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. Hum Mutat (2011) 1.17
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Hum Mutat (2007) 1.15
A tale of two genotypes: consistency between two high-throughput genotyping centers. Genome Res (2002) 1.14
Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). Mol Vis (2006) 1.13
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol (2012) 1.12
Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol (2007) 1.12
Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib. Retina (2011) 1.11
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis (2007) 1.10
Causes of cataract development in anesthetized mice. Exp Eye Res (2002) 1.08
Dysfunction of heterotrimeric kinesin-2 in rod photoreceptor cells and the role of opsin mislocalization in rapid cell death. Mol Biol Cell (2010) 1.01
Differential expression and function of ABCG1 and ABCG4 during development and aging. J Lipid Res (2010) 1.01
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. Am J Ophthalmol (2005) 1.01
Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation. Invest Ophthalmol Vis Sci (2008) 1.00
Functional burden of strabismus: decreased binocular summation and binocular inhibition. JAMA Ophthalmol (2013) 0.98
Somatic ablation of the Lrat gene in the mouse retinal pigment epithelium drastically reduces its retinoid storage. Invest Ophthalmol Vis Sci (2007) 0.95
Trait anxiety in pregnant women predicts offspring birth outcomes. Paediatr Perinat Epidemiol (2009) 0.94
CNTF-mediated protection of photoreceptors requires initial activation of the cytokine receptor gp130 in Müller glial cells. Proc Natl Acad Sci U S A (2013) 0.94
Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea (2009) 0.93
Intrinsically photosensitive retinal ganglion cells are the primary but not exclusive circuit for light aversion. Exp Eye Res (2012) 0.93
Disruption of the gene encoding the beta1-subunit of transducin in the Rd4/+ mouse. Invest Ophthalmol Vis Sci (2006) 0.93
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet (2012) 0.93
Apolipoprotein e gene and age-related maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol (2007) 0.93
Fluorescein-potentiated argon laser therapy improves symptoms and appearance of corneal neovascularization. Cornea (2002) 0.92
Severe neurologic impairment in mice with targeted disruption of the electrogenic sodium bicarbonate cotransporter NBCe2 (Slc4a5 gene). J Biol Chem (2011) 0.92
A reliable behavioral assay for the assessment of sustained photophobia in mice. Curr Eye Res (2008) 0.91
Optic neuritis in different strains of mice by a recombinant HSV-1 expressing murine interleukin-2. Invest Ophthalmol Vis Sci (2009) 0.87
Deficiency of SHP-1 protein-tyrosine phosphatase in "viable motheaten" mice results in retinal degeneration. Invest Ophthalmol Vis Sci (2006) 0.87
Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene. Genome Res (2003) 0.86
Surveillance of the eye and vision in clinical trials of CP-675,206 for metastatic melanoma. Am J Ophthalmol (2007) 0.86
High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy. Mol Vis (2007) 0.85
Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration. Invest Ophthalmol Vis Sci (2011) 0.85
Isotretinoin treatment inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration. Novartis Found Symp (2004) 0.85
Standard full-field electroretinography in healthy preterm infants. Doc Ophthalmol (2003) 0.85
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol (2006) 0.84
Surveillance of the eye and vision in a clinical trial of MART1-transformed dendritic cells for metastatic melanoma. Control Clin Trials (2004) 0.82
The mouse model of Down syndrome Ts65Dn presents visual deficits as assessed by pattern visual evoked potentials. Invest Ophthalmol Vis Sci (2010) 0.81
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Am J Ophthalmol (2004) 0.81
PTEN regulates retinal interneuron morphogenesis and synaptic layer formation. Mol Cell Neurosci (2011) 0.81
Functional and morphological analysis of the subretinal injection of retinal pigment epithelium cells. Vis Neurosci (2012) 0.81
Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration. Exp Eye Res (2008) 0.81
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. Graefes Arch Clin Exp Ophthalmol (2010) 0.81
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign. Mol Vis (2013) 0.80
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci (2010) 0.79
A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol (2004) 0.78
Longitudinal cohort study of patients with birdshot chorioretinopathy II: color vision at baseline. Am J Ophthalmol (2006) 0.78
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. BMC Med Genet (2014) 0.78
Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility. Invest Ophthalmol Vis Sci (2011) 0.77
Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy. Invest Ophthalmol Vis Sci (2013) 0.77
Neuronal programmed cell death-1 ligand expression regulates retinal ganglion cell number in neonatal and adult mice. J Neuroophthalmol (2012) 0.77
Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes. Ophthalmic Res (2010) 0.77
Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4. DNA Seq (2003) 0.76
Letter from the DSMC regarding a clinical trial of lutein in patients with retinitis pigmentosa. Arch Ophthalmol (2011) 0.76
The coming of age for age-related macular degeneration genetics. Ophthalmic Genet (2005) 0.75
A new vision for age-related macular degeneration. Eur J Hum Genet (2005) 0.75
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment. Retin Cases Brief Rep (2014) 0.75
NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION. Retin Cases Brief Rep (2017) 0.75
Unanswered questions in headache: so what is photophobia, anyway? Headache (2013) 0.75
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. Invest Ophthalmol Vis Sci (2007) 0.75
The genetics of age-related macular degeneration. Medsurg Nurs (2003) 0.75
CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION. Retin Cases Brief Rep (2017) 0.75
Gender specific issues in hereditary ocular disorders. Curr Eye Res (2014) 0.75