Published in Ophthalmology on October 30, 2010
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res (2010) 3.58
Disturbed mitochondrial dynamics and neurodegenerative disorders. Nat Rev Neurol (2014) 1.52
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations. Eye (Lond) (2011) 1.17
Mitochondrial disorders and the eye. Curr Opin Ophthalmol (2011) 0.84
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy. Mol Vis (2013) 0.79
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics (2014) 0.78
Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level. Graefes Arch Clin Exp Ophthalmol (2012) 0.77
Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis. Ann Clin Transl Neurol (2016) 0.76
Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. Case Rep Ophthalmol Med (2017) 0.75
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy. Sci Rep (2016) 0.75
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One (2017) 0.75
Multi-system neurological disease is common in patients with OPA1 mutations. Brain (2010) 5.37
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol (2004) 3.83
Proper method for calculating average visual acuity. J Refract Surg (1997) 3.57
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Visual acuities "hand motion" and "counting fingers" can be quantified with the freiburg visual acuity test. Invest Ophthalmol Vis Sci (2006) 3.18
The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet (2002) 2.67
Inherited mitochondrial optic neuropathies. J Med Genet (2008) 2.50
Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT). Graefes Arch Clin Exp Ophthalmol (2008) 2.15
Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology (1996) 1.71
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma. Ophthalmology (2001) 1.60
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet (2001) 1.56
Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun (1991) 1.45
eOPA1: an online database for OPA1 mutations. Hum Mutat (2005) 1.43
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet (2004) 1.42
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology (2010) 1.39
Hereditary optic neuropathies. Eye (Lond) (2004) 1.23
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol (2007) 1.19
OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol (2009) 1.19
Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol (2006) 1.17
Leber's hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci (2006) 1.14
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications. Genet Med (2009) 1.10
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci (2002) 1.10
Molecular genetic basis of primary inherited optic neuropathies. Eye (Lond) (2004) 1.08
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology (1989) 1.08
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest (1988) 1.05
Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis. Curr Opin Ophthalmol (2002) 0.98
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J Med Genet (2009) 0.98
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract. Mol Vis (2009) 0.97
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. Hum Mutat (2008) 0.97
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families. Hum Genet (1995) 0.92
OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Genet Med (2006) 0.87
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. J Inherit Metab Dis (2005) 0.84
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Mol Vis (2009) 0.82
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family. Retina (2006) 0.82
The American Society of Anesthesiologists Postoperative Visual Loss Registry: analysis of 93 spine surgery cases with postoperative visual loss. Anesthesiology (2006) 5.66
Teaching ophthalmoscopy to medical students (the TOTeMS study). Am J Ophthalmol (2013) 4.69
Ischemic Optic Neuropathies. N Engl J Med (2015) 3.53
Nonmydriatic ocular fundus photography among headache patients in an emergency department. Neurology (2013) 3.36
Most cases labeled as "retinal migraine" are not migraine. J Neuroophthalmol (2007) 3.20
High- and low-risk profiles for the development of multiple sclerosis within 10 years after optic neuritis: experience of the optic neuritis treatment trial. Arch Ophthalmol (2003) 3.13
Nonmydriatic digital ocular fundus photography on the iPhone 3G: the FOTO-ED study. Arch Ophthalmol (2012) 3.12
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Asymmetric papilledema in idiopathic intracranial hypertension. J Neuroophthalmol (2015) 2.84
Nonmydriatic ocular fundus photography in the emergency department. N Engl J Med (2011) 2.81
Feasibility of nonmydriatic ocular fundus photography in the emergency department: Phase I of the FOTO-ED study. Acad Emerg Med (2011) 2.46
Profiles of obesity, weight gain, and quality of life in idiopathic intracranial hypertension (pseudotumor cerebri). Am J Ophthalmol (2007) 2.44
Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet (2006) 2.26
Treatment of nonarteritic anterior ischemic optic neuropathy. Surv Ophthalmol (2009) 2.23
Cerebrospinal fluid exchange in the optic nerve in normal-tension glaucoma. Br J Ophthalmol (2011) 2.23
Meningoceles in idiopathic intracranial hypertension. AJR Am J Roentgenol (2014) 2.21
Congruency in homonymous hemianopia. Am J Ophthalmol (2007) 2.17
Prevalence of a normal C-reactive protein with an elevated erythrocyte sedimentation rate in biopsy-proven giant cell arteritis. Ophthalmology (2006) 2.16
Papilledema revisited: is its pathophysiology really understood? Clin Experiment Ophthalmol (2009) 2.12
Radiation retinopathy after fractionated stereotactic radiotherapy for optic nerve sheath meningioma. Ophthalmology (2004) 2.09
Development and validation of an improved neurological hemifield test to identify chiasmal and postchiasmal lesions by automated perimetry. Invest Ophthalmol Vis Sci (2014) 2.05
Fulminant idiopathic intracranial hypertension. Neurology (2007) 2.02
Visual function more than 10 years after optic neuritis: experience of the optic neuritis treatment trial. Am J Ophthalmol (2004) 2.01
Peripapillary nerve fiber layer thickness measured by optical coherence tomography in patients with no light perception from long-standing nonglaucomatous optic neuropathies. J Neuroophthalmol (2007) 1.97
Quality of nonmydriatic digital fundus photography obtained by nurse practitioners in the emergency department: the FOTO-ED study. Ophthalmology (2012) 1.95
Clinical course of idiopathic intracranial hypertension with transverse sinus stenosis. Neurology (2012) 1.83
The incidence of vision loss due to perioperative ischemic optic neuropathy associated with spine surgery: the Johns Hopkins Hospital Experience. Spine (Phila Pa 1976) (2005) 1.79
Should steroids be offered to patients with nonarteritic anterior ischemic optic neuropathy? J Neuroophthalmol (2010) 1.75
Optic disc morphology in open-angle glaucoma compared with anterior ischemic optic neuropathies. Invest Ophthalmol Vis Sci (2009) 1.71
Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuroophthalmol (2002) 1.71
Clinical features associated with lesions other than pituitary adenoma in patients with an optic chiasmal syndrome. Am J Ophthalmol (2004) 1.69
Cerebrospinal fluid dynamics between the basal cisterns and the subarachnoid space of the optic nerve in patients with papilloedema. Br J Ophthalmol (2010) 1.69
Thrombolysis for acute central retinal artery occlusion: is it time? Am J Ophthalmol (2008) 1.68
Diffusion-weighted magnetic resonance imaging in Shaken Baby Syndrome. Am J Ophthalmol (2002) 1.65
Is open-angle glaucoma caused by impaired cerebrospinal fluid circulation: around the optic nerve? Clin Experiment Ophthalmol (2008) 1.57
A primate model of nonarteritic anterior ischemic optic neuropathy. Invest Ophthalmol Vis Sci (2008) 1.56
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
Deafness and blindness as a presentation of colorectal meningeal carcinomatosis. Clin Adv Hematol Oncol (2010) 1.51
Neurologic impairment 10 years after optic neuritis. Arch Neurol (2004) 1.51
The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol (2010) 1.51
Visual outcome in surgically treated suprasellar meningiomas. J Neuroophthalmol (2003) 1.49
Ischemic optic neuropathies. Curr Opin Neurol (2004) 1.45
Third nerve palsies. Semin Neurol (2007) 1.45
Update on the pathophysiology and management of idiopathic intracranial hypertension. J Neurol Neurosurg Psychiatry (2012) 1.42
Epidemiology of giant cell arteritis in an Arab population: a 22-year study. Br J Ophthalmol (2007) 1.40
Choroidal infarction in fulminant idiopathic intracranial hypertension. J Neuroophthalmol (2010) 1.39
Multiple brain infarcts after orbital inflammation. Rev Neurol Dis (2009) 1.38
A patient with headache and increased intracranial pressure. Rev Neurol Dis (2008) 1.37
Isolated third, fourth, and sixth cranial nerve palsies from presumed microvascular versus other causes: a prospective study. Ophthalmology (2013) 1.36
Diagnostic accuracy and use of nonmydriatic ocular fundus photography by emergency physicians: phase II of the FOTO-ED study. Ann Emerg Med (2013) 1.35
Update on idiopathic intracranial hypertension. Am J Ophthalmol (2011) 1.33
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet (2002) 1.32
Anemia and papilledema. Am J Ophthalmol (2003) 1.27
Oligodendrocyte dysfunction after induction of experimental anterior optic nerve ischemia. Invest Ophthalmol Vis Sci (2005) 1.26
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol (2014) 1.25
Diagnosis and management of MELAS. Expert Rev Mol Diagn (2004) 1.24
Confirmation of and differentiation among primary vascular lesions using ultrasonography. Ophthal Plast Reconstr Surg (2011) 1.24
Nonarteritic anterior ischemic optic neuropathy (NAION) and its experimental models. Prog Retin Eye Res (2011) 1.23
The Fisher variant of Guillain-Barré syndrome (Fisher syndrome). J Neuroophthalmol (2009) 1.21
Erectile dysfunction drugs and nonarteritic anterior ischemic optic neuropathy. Am J Ophthalmol (2005) 1.20
Long-term outcome in children with gliomas of the anterior visual pathway. Pediatr Neurol (2003) 1.18
Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res (2003) 1.17
Homonymous hemianopia in stroke. J Neuroophthalmol (2006) 1.17
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain (2013) 1.17
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A (2010) 1.16
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol (2010) 1.14
Thrombolysis for central retinal artery occlusion. J Neuroophthalmol (2007) 1.13
Ischemic optic neuropathy following spine surgery. J Neurosurg Anesthesiol (2005) 1.13
Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity. Mol Cancer Ther (2009) 1.11
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications. Genet Med (2009) 1.10
Hypertensive brainstem encephalopathy: clinical and radiographic features. J Neurol Sci (2003) 1.08
The treatment of giant cell arteritis. Rev Neurol Dis (2008) 1.08
Clinicopathologic correlations in giant cell arteritis: a retrospective study of 107 cases. Ophthalmology (2009) 1.08
Local intraarterial fibrinolysis administered in aliquots for the treatment of central retinal artery occlusion: the Johns Hopkins Hospital experience. Stroke (2008) 1.08