Published in Retina on September 20, 2017
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet (2007) 2.35
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet (2009) 1.92
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology (2013) 1.87
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology (2009) 1.65
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2010) 1.61
Cone-rod dystrophy can be a manifestation of Danon disease. Graefes Arch Clin Exp Ophthalmol (2012) 1.45
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology (2010) 1.40
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A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet (2013) 1.29
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat Genet (2013) 1.23
Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology (2012) 1.22
Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. Ophthalmology (2011) 1.20
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Invest Ophthalmol Vis Sci (2011) 1.18
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci (2006) 1.12
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Pars plana vitrectomy for disturbing primary vitreous floaters: clinical outcome and patient satisfaction. Graefes Arch Clin Exp Ophthalmol (2012) 1.08
The SERPING1 gene and age-related macular degeneration. Lancet (2009) 1.08
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Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol (2007) 1.01
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones. Mol Vis (2008) 0.98
Geographic atrophy in age-related macular degeneration and TLR3. N Engl J Med (2009) 0.97
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol (2004) 0.97
Outcome of ABCA4 microarray screening in routine clinical practice. Mol Vis (2009) 0.95
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. Ophthalmology (2011) 0.95
Retinal vascular lesions in patients of Caucasian and Asian origin with type 2 diabetes: baseline results from the ADVANCE Retinal Measurements (AdRem) study. Diabetes Care (2008) 0.93
Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina (2009) 0.91
The conclusions of Clemson et al concerning valproic acid are premature. Br J Ophthalmol (2010) 0.90
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Gene expression and functional annotation of the human ciliary body epithelia. PLoS One (2012) 0.88
Ultrastructural localization and expression of TRPM1 in the human retina. Invest Ophthalmol Vis Sci (2011) 0.87
The use of eplerenone in therapy-resistant chronic central serous chorioretinopathy. Acta Ophthalmol (2014) 0.87
Near-infrared reflectance imaging of neovascular age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol (2009) 0.86
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. Arch Ophthalmol (2012) 0.86
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology (2012) 0.86
Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. Genet Med (2009) 0.85
Reflux after intravitreal injection of bevacizumab. Ophthalmology (2008) 0.85
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Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging. Invest Ophthalmol Vis Sci (2011) 0.84
Mitochondrial retinal dystrophy associated with the m.3243A>G mutation. Ophthalmology (2013) 0.84
Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol (2013) 0.82
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy. Ophthalmology (2010) 0.82
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography. Am J Ophthalmol (2012) 0.82
Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration. Mol Vis (2012) 0.82
Subthreshold Micropulse Laser (577 nm) Treatment in Chronic Central Serous Chorioretinopathy. Ophthalmologica (2015) 0.82
Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch Clin Exp Ophthalmol (2011) 0.81
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. Retina (2017) 0.78
Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration. Invest Ophthalmol Vis Sci (2012) 0.78
SHORT-TERM FINDINGS ON OPTICAL COHERENCE TOMOGRAPHY AND MICROPERIMETRY IN CHRONIC CENTRAL SEROUS CHORIORETINOPATHY PATIENTS TREATED WITH HALF-DOSE PHOTODYNAMIC THERAPY. Retin Cases Brief Rep (2016) 0.77
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene. Retina (2016) 0.77
Optical coherence tomography findings for nanophthalmic eyes. Retina (2008) 0.76
Loss of MAPK Pathway Activation in Post-Mitotic Retinal Cells as Mechanism in MEK Inhibition-Related Retinopathy in Cancer Patients. Medicine (Baltimore) (2016) 0.75
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity. Am J Ophthalmol (2009) 0.75
Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. Invest Ophthalmol Vis Sci (2013) 0.75
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WHITE ANNULAR RETINAL DYSTROPHY WITH SEVERE GLAUCOMA: A New Autosomal Dominant Condition. Retina (2016) 0.75
MAINTENANCE OF GOOD VISUAL ACUITY IN BEST DISEASE ASSOCIATED WITH CHRONIC BILATERAL SEROUS MACULAR DETACHMENT. Retin Cases Brief Rep (2017) 0.75
FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY. Retina (2017) 0.75
Amino acid residue 67 (isoleucine) of HLA-DRB is associated with POHS. Invest Ophthalmol Vis Sci (2002) 0.75
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Neurological picture. Retinal red spots and white-matter lesions in a 60-year-old man. J Neurol Neurosurg Psychiatry (2010) 0.75