Published in Ophthalmology on April 19, 2009
Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. Invest Ophthalmol Vis Sci (2011) 1.37
High-resolution images of retinal structure in patients with choroideremia. Invest Ophthalmol Vis Sci (2013) 1.27
High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. Invest Ophthalmol Vis Sci (2014) 0.90
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. Doc Ophthalmol (2012) 0.87
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet (2013) 0.84
Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opin Orphan Drugs (2015) 0.79
Clinical applications of fundus autofluorescence in retinal disease. Int J Retina Vitreous (2016) 0.78
[Genetic diseases of the retinal pigment epithelium]. Ophthalmologe (2009) 0.78
Multimodal imaging in hereditary retinal diseases. J Ophthalmol (2013) 0.76
Recent advances and future prospects in choroideremia. Clin Ophthalmol (2015) 0.76
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. Graefes Arch Clin Exp Ophthalmol (2017) 0.75
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet (2005) 2.26
SOX2 anophthalmia syndrome. Am J Med Genet A (2005) 2.24
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci U S A (2002) 1.65
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology (2004) 1.39
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat (2007) 1.38
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet (2009) 1.32
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol (2002) 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
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Hum Mutat (2002) 1.25
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol (2006) 1.23
Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia (2006) 1.22
Detection of intact rAAV particles up to 6 years after successful gene transfer in the retina of dogs and primates. Mol Ther (2008) 1.20
Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefes Arch Clin Exp Ophthalmol (2005) 1.19
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. Invest Ophthalmol Vis Sci (2008) 1.16
Photopic negative response versus pattern electroretinogram in early glaucoma. Invest Ophthalmol Vis Sci (2013) 1.16
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet (2005) 1.15
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat (2011) 1.06
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis (2008) 1.05
Gene therapy for vision loss -- recent developments. Discov Med (2010) 1.04
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
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol (2004) 1.01
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. Mol Vis (2011) 1.00
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat (2003) 0.99
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations. Graefes Arch Clin Exp Ophthalmol (2004) 0.98
Bilateral tonic pupils with evidence of anti-hu antibodies as a paraneoplastic manifestation of small cell lung cancer. Ophthalmologica (2004) 0.97
Functional antibodies targeting IsaA of Staphylococcus aureus augment host immune response and open new perspectives for antibacterial therapy. Antimicrob Agents Chemother (2010) 0.96
Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalmic Genet (2003) 0.96
Light responses in the mouse retina are prolonged upon targeted deletion of the HCN1 channel gene. Eur J Neurosci (2008) 0.95
Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type. Vision Res (2002) 0.93
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Mol Vis (2008) 0.92
Misrouting of the optic nerves in albinism: estimation of the extent with visual evoked potentials. Invest Ophthalmol Vis Sci (2005) 0.91
Unilateral adult malignant optic nerve glioma. Graefes Arch Clin Exp Ophthalmol (2004) 0.91
Disturbed visual system function in methionine synthase deficiency. Graefes Arch Clin Exp Ophthalmol (2004) 0.90
Superior oblique tucking with versus without additional inferior oblique recession for acquired trochlear nerve palsy. Graefes Arch Clin Exp Ophthalmol (2009) 0.89
Automated segmentation of pathological cavities in optical coherence tomography scans. Invest Ophthalmol Vis Sci (2013) 0.89
Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology (2011) 0.89
Pediatric clinical visual electrophysiology: a survey of actual practice. Doc Ophthalmol (2006) 0.88
RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy. Ophthalmic Genet (2010) 0.88
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. Retina (2010) 0.88
Feasibility and outcome of automated kinetic perimetry in children. Graefes Arch Clin Exp Ophthalmol (2010) 0.88
Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency. Invest Ophthalmol Vis Sci (2012) 0.87
Automated segmentation of retinal blood vessels in spectral domain optical coherence tomography scans. Biomed Opt Express (2012) 0.87
Electrophysiology and glaucoma: current status and future challenges. Cell Tissue Res (2013) 0.85
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet (2013) 0.84
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis (2007) 0.84
Comparison of central retinal thickness in healthy children and adults measured with the Heidelberg Spectralis OCT and the zeiss Stratus OCT 3. Ophthalmologica (2010) 0.84
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies. Ophthalmic Genet (2015) 0.83
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses]. Klin Monbl Augenheilkd (2003) 0.83
Visualization of fundus vessel pulsation using principal component analysis. Invest Ophthalmol Vis Sci (2011) 0.83
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. Invest Ophthalmol Vis Sci (2012) 0.83
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
Evolution of central corneal thickness in children with congenital glaucoma requiring glaucoma surgery. Graefes Arch Clin Exp Ophthalmol (2007) 0.82
In vivo assessment of retinal vascular wall dimensions. Invest Ophthalmol Vis Sci (2010) 0.82
OCT-Based Macular Structure-Function Correlation in Dependence on Birth Weight and Gestational Age-the Giessen Long-Term ROP Study. Invest Ophthalmol Vis Sci (2016) 0.80
Age matters--thoughts on a grading system for ABCA4 mutations. Graefes Arch Clin Exp Ophthalmol (2004) 0.80
Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error. Twin Res Hum Genet (2012) 0.80
Interchangeability of macular thickness measurements between different volumetric protocols of Spectralis optical coherence tomography in normal eyes. Graefes Arch Clin Exp Ophthalmol (2011) 0.79
Fundus-controlled two-color dark adaptometry with the Microperimeter MP1. Graefes Arch Clin Exp Ophthalmol (2015) 0.79
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. J Mol Med (Berl) (2006) 0.79
Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study. J Orofac Orthop (2002) 0.79
The effects of midazolam on intraocular pressure in children during examination under sedation. Br J Ophthalmol (2010) 0.79
Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis. Graefes Arch Clin Exp Ophthalmol (2007) 0.78
Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Vision Res (2003) 0.78
Improving detection of mild loss of retinal light increment sensitivity at the posterior pole with the microperimeter MP1. Invest Ophthalmol Vis Sci (2013) 0.77
Prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children. Ophthalmic Epidemiol (2013) 0.76
Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. Invest Ophthalmol Vis Sci (2006) 0.76
Normative values of peripheral retinal thickness measured with Spectralis OCT in healthy young adults. Graefes Arch Clin Exp Ophthalmol (2014) 0.75
Systematic review of digital imaging screening strategies for retinopathy of prematurity. Pediatrics (2009) 0.75
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials. Ophthalmic Res (2017) 0.75
Shared decision-making, control preferences and psychological well-being in patients with RPE65 deficiency awaiting experimental gene therapy. Ophthalmic Res (2015) 0.75
Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Am J Med Genet A (2017) 0.75
In search for increased prevalence rates of strabismus and microstrabismus in two Bavarian districts, Oberpfalz and Niederbayern, to spot populations for gene identification. Strabismus (2002) 0.75
The Brückner transillumination test: limited detection of small-angle esotropia. Ophthalmology (2011) 0.75