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Genomes and Genes
| ocular motility disordersSummarySummary: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240) Top Publications
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"Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulationJanet C Rucker
The Daroff-Dell'Osso Ocular Motility Laboratory, Louis Stokes Cleveland Veterans Affairs Medicla Center and Case Medical School, OH 44106, USA
Semin Ophthalmol 21:229-43. 2006..SSI may result from simultaneous dysfunctions: 1) a transient loss of accurate retinal-error information and/or sampled, reconstructed error; plus 2) a constant sampled, reconstructed retinal error that drives saccades...
Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)Arif O Khan
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Ophthalmology 115:2262-5. 2008..To document the phenotype and determine the genotype of a child with synergistic convergence...
Structural and functional MRIs disclose cerebellar pathologies in idiopathic downbeat nystagmusK Hufner
Department of Neurology, Klinikum Grosshadern, Neurologisches Forschungshaus, Munich, Germany
Neurology 69:1128-35. 2007..Forty percent of patients with DBN are classified as having idiopathic DBN, because no underlying pathology can be demonstrated by conventional MRI or laboratory tests...
Opsoclonus in three dimensions: oculographic, neuropathologic and modelling correlatesA M Wong
Division of Neurology, University Health Network, Toronto Western Hospital, Toronto, Ontario, Canada
J Neurol Sci 189:71-81. 2001..Malfunction of Purkinje cells in the dorsal vermis, which inhibit the FOR, may cause opsoclonus by disinhibiting it...
Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3T M Bosley
Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Neurology 64:1196-203. 2005....
Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosisRim Amouri
Laboratoire de Neurobiologie Moleculaire et de Neuropathologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia
J Mol Neurosci 39:337-41. 2009..This study extends the molecular spectrum of the ROBO3 gene and the geographic origin of patients with ROBO3 gene mutations, and underlines the homogeneity of the motor ocular syndrome whatever type of mutation is encountered...
Diagnostic yield of the evaluation of isolated third nerve palsy in adultsKara L Schultz
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
Can J Ophthalmol 42:110-5. 2007..We aim to define diagnostic yield for neuroimaging of third nerve palsy (TNP) by degree of internal and external dysfunction using previously published imaging guidelines...
Saccadic burst cell membrane dysfunction is responsible for saccadic oscillationsAasef G Shaikh
Department of Neurology, The Johns Hopkins University, Baltimore, Maryland 21287, USA
J Neuroophthalmol 28:329-36. 2008..Our simulations suggest that alterations in membrane properties that lead to an increase in PIR, a reduction in external glycinergic inhibition, or both can cause saccadic oscillations...
Therapeutic considerations for eye movement disordersA Straube
Department of Neurology, University of Munich, Munich, Germany
Dev Ophthalmol 40:175-92. 2007..Finally, anticonvulsants like carbamazepine are the drugs of choice for disorders involving a nerve-blood vessel contact that induces symptoms of vestibular paroxysmia or superior oblique myokymia...
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3W-M Chan
J Med Genet 43:e11. 2006..More comprehensive examinations of parents and siblings of HGPPS patients are required to determine if the incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations is greater than in the general population...
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disordersAlexander E Volk
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
Graefes Arch Clin Exp Ophthalmol 248:1351-7. 2010..We screened for CHN1 mutations in patients with various congenital ocular motility disorders.
Synergistic convergence in congenital extraocular muscle misinnervationChristina Pieh
Arch Ophthalmol 126:574-6. 2008
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSFB E Assmann
Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
Neurology 62:1872-4. 2004..Pyramidal tract signs also emerged in the course of the disease in two patients. This combination of symptoms and biochemical findings suggests a unique pathogenic mechanism...
Smooth pursuit in patients with downbeat nystagmusStefan Glasauer
Center for Sensorimotor Research, Department of Neurology, Ludwig Maximilian University, Munich, Germany
Ann N Y Acad Sci 1039:532-5. 2005....
Ophthalmological findings in Joubert syndromeV Sturm
Department of Ophthalmology, University Hospital of Zurich, Zurich, Switzerland
Eye (Lond) 24:222-5. 2010..It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings...
A randomized clinical trial of treatments for convergence insufficiency in childrenMitchell Scheiman
Eye Institute, Pennsylvania College of Optometry, Philadelphia 19141, USA
Arch Ophthalmol 123:14-24. 2005..To compare vision therapy/orthoptics, pencil push-ups, and placebo vision therapy/orthoptics as treatments for symptomatic convergence insufficiency in children 9 to 18 years of age...
Eye movement abnormalities in Joubert syndromeAvery H Weiss
Division of Ophthalmology, Children s Hospital and Regional Medical Center, Seattle, Washington 98115, USA
Invest Ophthalmol Vis Sci 50:4669-77. 2009..The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome...
Unidirectional startle responses and disrupted left-right co-ordination of motor behaviors in robo3 mutant zebrafishH A Burgess
Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 6058, USA
Genes Brain Behav 8:500-11. 2009..Moreover, we show that twitch twice mutants exhibit normal visual acuity but display defects in horizontal eye movements, suggesting a specific and critical role for twitch twice/robo3 in sensory-guided behavior...
Oculomotility disorders arising from disruptions in brainstem motor neuron developmentElizabeth C Engle
Program in Genomics, Department of Neurology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Arch Neurol 64:633-7. 2007....
Acquired simulated brown syndrome following surgical repair of medial orbital wall fractureJong-uk Hwang
Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Korean J Ophthalmol 19:80-3. 2005..Postoperatively, the patient was asymptomatic in all diagnostic gaze positions...
Patients with horizontal gaze palsy and progressive scoliosis due to ROBO3 E319K mutation have both uncrossed and crossed central nervous system pathways and perform normally on neuropsychological testingG Amoiridis
Department of Neurology, University of Crete, PO Box 2208, 71003 Heraklion, Greece
J Neurol Neurosurg Psychiatry 77:1047-53. 2006..Although there is evidence for uncrossed cuneatal and corticospinal tracts in HGPPS, it is unclear whether other central nervous system pathways are involved...
A new familial disease of saccadic oscillations and limb tremor provides clues to mechanisms of common tremor disordersAasef G Shaikh
Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
Brain 130:3020-31. 2007....
Are orthoptic exercises an effective treatment for convergence and fusion deficiencies?S Aziz
Tennent Institute of Ophthalmology, Gartnavel General Hospital, Glasgow, UK
Strabismus 14:183-9. 2006..To investigate whether orthoptic exercises are an effective way to influence the near point of convergence, fusion range and asthenopic symptoms...
Joubert syndrome with associated corpus callosum agenesisN Zamponi
Pediatric Neurology Department, Children's Hospital G. Salesi, Ancona, Italy
Eur J Paediatr Neurol 6:63-6. 2002..Nevertheless, the hypothesis of a developmental abnormality of midline structures extended to the supratentorial compartment is rather attractive...
Pontine warning syndromeGustavo Saposnik
Stroke Research Unit, Division of Neurology, Department of Medicine, St Michael s Hospital, University of Toronto, 55 Queen St E, Ste 931, Toronto ONM5C1R6, Canada
Arch Neurol 65:1375-7. 2008..Little is known about stroke mechanisms in patients with fluctuating symptoms and the role of branch atherosclerotic disease...
Disruption of smooth pursuit eye movements in cirrhosis: relationship to hepatic encephalopathy and its treatmentSara Montagnese
Centre for Hepatology, Department of Medicine, Hampstead Campus, Royal Free and University College Medical School, Rowland Hill Street, Hampstead, London, United Kingdom
Hepatology 42:772-81. 2005..Treatment status confounds the classification of neuropsychiatric status and should be taken into account when categorizing these patients...
Randomised clinical trial of the effectiveness of base-in prism reading glasses versus placebo reading glasses for symptomatic convergence insufficiency in childrenM Scheiman
Eye Institute, Pennsylvania College of Optometry, 1200 West Godfrey Ave, Philadelphia, PA 19141, USA
Br J Ophthalmol 89:1318-23. 2005..To compare base-in prism reading glasses with placebo reading glasses for the treatment of symptomatic convergence insufficiency (CI) in children aged 9 to <18 years...
Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex?Vasumathy Vedantham
Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
Indian J Ophthalmol 55:150-1. 2007..Computerized search using Medline did not reveal any such previously reported association...
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disordersJoel Fluss
Division of Pediatric Neurology, The Hospital for Sick Children, University of Toronto, Ontario, Canada
J Child Neurol 21:320-4. 2006..We report a case of Joubert syndrome diagnosed prenatally using fetal MRI. We also discuss the etiology of Joubert syndrome in view of the recent genetic advances and murine models of cerebellar dysgenesis...
Ophthalmic features of Joubert syndromeArif O Khan
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia
Ophthalmology 115:2286-9. 2008..The objective of the current study is to describe the ophthalmic phenotype in a cohort of patients with Joubert syndrome for whom the diagnosis was made using current diagnostic criteria...
Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosisSven Haller
Institute of Radiology, Department of Neuroradiology, University Hospital Basel, Basel, Switzerland
Neuroradiology 50:453-9. 2008..This rare disease is of particular interest because the absence, or at least reduction, of crossing of the ascending lemniscal and descending corticospinal tracts in the medulla predicts abnormal ipsilateral sensory and motor systems...
Ocular and oculomotor signs in Joubert syndromeR J Tusa
Bascom Palmer Eye Institute, University of Miami, FL 33101, USA
J Child Neurol 14:621-7. 1999....
The effectiveness of pencil pushups treatment for convergence insufficiency: a pilot studyMichael Gallaway
Pennsylvania College of Optometry, Philadelphia 19141 3322, USA
Optom Vis Sci 79:265-7. 2002..To study the effectiveness of pencil pushups treatment (PPT) for the treatment of convergence insufficiency in a clinical situation...
A survey of treatment modalities for convergence insufficiencyMitchell Scheiman
Pennsylvania College of Optometry, Philadelphia 19141, USA
Optom Vis Sci 79:151-7. 2002..The purpose of this study was to investigate the care process for Cl by surveying eyecare professionals regarding the most common treatment modalities used by both optometrists and ophthalmologists across the United States...
Cognition, behavior, and development in Joubert syndromeE B Fennell
Department of Clinical and Health Psychology, University of Florida, Gainesville 32610 0165, USA
J Child Neurol 14:592-6. 1999..Future directions of research with this rare disorder are suggested...
Clinical features and revised diagnostic criteria in Joubert syndromeB L Maria
Department of Pediatrics, University of Florida, Gainesville, USA
J Child Neurol 14:583-90; discussion 590-1. 1999..We propose a revision in diagnostic criteria for Joubert syndrome...
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significanceB L Maria
Department of Pediatrics, University of Florida, Gainesville, USA
J Child Neurol 14:368-76. 1999..A better understanding of the clinical, radiologic, and pathologic features of Joubert syndrome should help uncover the genetic basis for the syndrome...
Acquired Pseudo-Brown's syndrome immediately following Ahmed valve glaucoma implantD K Coats
Cullen Eye Institute, Baylor College of Medicine, Texas Children s Hospital, Houston 77030, USA
Ophthalmic Surg Lasers 30:396-7. 1999..Implant-orbital disproportion can produce a pseudo-Brown's syndrome. Surgeons are encouraged to perform forced duction testing at the time of glaucoma implant placement to detect and prevent this complication...
Efficacy of treatment for convergence insufficiency using vision therapyPaul Adler
Ophthalmic Physiol Opt 22:565-71. 2002..The study also evaluates the associated symptoms before and after therapy...
Self-control during response conflict by human supplementary eye fieldMasud Husain
Imperial College, Division of Neuroscience and Psychological Medicine, Charing Cross Hospital, London W6 8RF, UK
Nat Neurosci 6:117-8. 2003
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati
IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
Am J Hum Genet 81:104-13. 2007..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
Neuropathology of Joubert syndromeA T Yachnis
Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine and UF Brain Institute, Gainesville 32610 0275, USA
J Child Neurol 14:655-9; discussion 669-72. 1999..The latter could explain certain clinical features of the syndrome, including episodic hyperpnea and oculomotor apraxia...
Long-term results of silicone expander for moderate and severe Brown syndrome (Brown syndrome "plus")D R Stager
UT Southwestern Medical School and the Pediatric Ophthalmology, PA, Dallas, Texas 75225, USA
J AAPOS 3:328-32. 1999..Dr Kenneth Wright has introduced a procedure of superior oblique muscle tenotomy with a silicone expander to reduce the incidence of overcorrection...
Hemispheric asymmetry of gaze deviation and relationship to neglect in acute strokeJ M Ringman
Department of Neurology, University of California, Los Angeles, CA 90095 1769, USA
Neurology 65:1661-2. 2005..There was no difference in its rate of co-occurrence with neglect between right- and nonright-handed patients...
Neuro-ophthalmologic manifestations of paraneoplastic syndromesMelissa W Ko
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
J Neuroophthalmol 28:58-68. 2008..Most of these disorders are related to immunologic mechanisms presumably triggered by the neoplastic expression of neuronal proteins. Accurate recognition is essential to appropriate management...
Smooth pursuit eye movements in 1,087 men: effects of schizotypy, anxiety, and depressionNikolaos Smyrnis
University Mental Health Research Institute, Athens, Greece
Exp Brain Res 179:397-408. 2007....
Abducens-oculomotor synkinesis associated with internuclear ophthalmoplegia and acquired abducens nerve palsySorot Wutthiphan
Priest Hospital, Bangkok, Thailand
J Pediatr Ophthalmol Strabismus 43:246-9. 2006..Weakening surgery on the medial rectus muscle did not eliminate the synergistic movement. The mechanism responsible for the abducens-oculomotor synkinesis is discussed...
Reexploration and inferior oblique myectomy temporal to the inferior rectus to treat persistent inferior oblique overactionDavid M Squirrell
Department of Ophthalmology, Royal Hallamshire Hospital, Glossop Road, Sheffield, England
J AAPOS 11:48-51. 2007..We describe the results of reexploration and myectomy of the IO muscle using a standard inferotemporal approach to treat this clinical entity...
Taking the temperature of MS with INOR John Leigh
Neurology 70:1063-4. 2008
Superior oblique tendon incarceration syndromeBurton J Kushner
Department of Ophthalmology and Visual Sciences, University of Wisconsin Hospital and Clinics, 2870 University Ave, Suite 206, Madison, WI 53705, USA
Arch Ophthalmol 125:1070-6. 2007..To describe the clinical features, etiology, and management of superior oblique tendon incarceration syndrome...
Traumatic tear of the inferior rectus muscle treated with inferior oblique anterior transpositionKatyanne Dantas Godeiro
Henry C Witelson Ocular Pathology Laboratory, Department of Ophthalmology, McGill University, Lyman Duff Building, 3775 University Street, Room 216, Montreal, QC, Canada, H3A 2B4
Int Ophthalmol 26:185-9. 2005..To report a case of traumatic tear of the inferior rectus muscle treated with inferior oblique anterior transposition (IOAT)...
"Inverted Brown pattern": a tight inferior oblique muscle masquerading as a superior oblique muscle underaction--clinical characteristics and surgical managementAhmed Awadein
The Zanvyl Krieger Children's Eye Center at the Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-9028, USA
J AAPOS 10:565-72. 2006..In such cases, IO muscle weakening yields better results than contralateral inferior rectus muscle recession, even though there is no significant IO muscle overaction preoperatively...
Visual function and execution of microsaccades related to reading skills, in cerebral palsied childrenNikos Kozeis
Department of Ophthalmology, Hippokrateion Hospital, Thessaloniki, Greece
Int J Neurosci 116:1347-58. 2006..It is also suggested that microsaccadic skills of CP children is an identifiable factor compounding the adverse effects of mental retardation on reading skills...
Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imagingJae Hyoung Kim
Department of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
Ophthalmology 112:728-32. 2005..CONCLUSIONS: In both patients with CFEOM and synergistic divergence, the oculomotor nerve was hypoplastic bilaterally, and the abducens nerve was absent on the side exhibiting synergistic divergence...
Ocular and oculomotor findings of Joubert syndromeKadircan H Keskinbora
J Pediatr Ophthalmol Strabismus 45:5-6. 2008
Teaching NeuroImage: one-and-a-half syndromePatricio S Espinosa
Department of Neurology, University of Kentucky College of Medicine, Lexington, KY, USA
Neurology 70:e20. 2008
Dissociated palsy of vertical saccades: loss of voluntary and visually guided saccades with preservation of reflexive vestibular quick phasesJi Hoon Kang
Department of Neurology, Cheju National University College of Medicine, Cheju, Republic of Korea
J Neuroophthalmol 28:97-103. 2008....
Latency of saccades and vergence eye movements in dyslexic childrenMaria Pia Bucci
IRIS, FRE 3154, CNRS, Pôle chirurgie ORL OPH, Hopital Robert Debre, 48 Bld Serurier, 75019 Paris, France
Exp Brain Res 188:1-12. 2008..Difficulties in both voluntary and reflexive control shifts of visual attention from near to far distance in dyslexics could be at the origin of these findings...
Teaching NeuroImage: Convergence spasm associated with midbrain compression by cerebral aneurysmKonrad P Weber
Department of Neurology, Royal Prince Alfred Hospital, Sydney, Australia
Neurology 70:e49-50. 2008
Neural activation associated with corrective saccades during tasks with fixation, pursuit and saccadesSven Haller
Institute of Radiology, Department of Neuroradiology, University Hospital Basel, CH 4031, Basel, Switzerland
Exp Brain Res 184:83-94. 2008....
Ocular motility and Wilson's disease: a study on 34 patientsI Ingster-Moati
université Paris 7 Diderot, Assistance Publique Hopitaux de Paris, Hopital Necker, Department of Ophthalmology, INSERM, U669, Paris, France
J Neurol Neurosurg Psychiatry 78:1199-201. 2007..The excessive accumulation of copper in the brain induces an extrapyramidal syndrome. Oculomotor abnormalities occur in most extrapyramidal disorders but have rarely been studied in Wilson's disease...
Linear nondisplaced orbital fractures with muscle entrapmentMarc R Criden
Department of Ophthalmology, Case Western Reserve University School of Medicine, Rainbow Babies and Children s Hospital, Cleveland, Ohio, USA
J AAPOS 11:142-7. 2007..This study reviews the clinical findings, radiologic findings and interpretations, preoperative and postoperative ocular motility, and outcomes in this subset of orbital fracture patients treated with early surgical repair...
Wall-eyed bilateral internuclear ophthalmoplegia from lesions at different levels in the brainstemChien Ming Chen
Section of Neurology, Department of Internal Medicine, Feng Yuan Hospital, Department of Health, Executive Yuan, Taiwan, Republic of China
J Neuroophthalmol 27:9-15. 2007..In a study of the clinical and imaging features of four patients with WEBINO, we found that that three of four lesions involved the midbrain but not necessarily the medial rectus subnuclei...
Pearls & Oy-sters: The medial longitudinal fasciculus in ocular motor physiologyT C Frohman
Department of Neurology, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Blvd, Dallas, TX75235, USA
Neurology 70:e57-67. 2008..To review the role played by the medial longitudinal fasciculus (MLF) in ocular motor physiology and to characterize a number of syndromes that result from lesions in this eloquent brainstem tract system...
Suppression of saccadic intrusions in hereditary ataxia by memantineA Serra
Veterans Affairs Medical Center, Case Western Reserve University, Cleveland, OH, USA
Neurology 70:810-2. 2008
Extraocular muscle hypertrophy in myotonia congenitaBradley Wakeman
Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
J AAPOS 12:294-6. 2008..Esotropia and reduced saccadic velocities have been reported in the dominant form of MC. We report two cases in which orbital magnetic resonance imaging (MRI) imaging showed extraocular muscle hypertrophy...
Hypoplastic inferior rectus muscle in association with accessory extraocular muscle and globe retractionSeyhan B Ozkan
Department of Ophthalmology, Adnan Menderes University, Aydin, Turkey
J AAPOS 11:488-90. 2007..We present a case with bilateral hypoplasia of the inferior rectus muscle with an accessory extraocular muscle in association with globe retraction and lambda-pattern exodeviation...
Symptomatic convergence insufficiency. Interview by Leonard B. NelsonKathleen Mahon
J Pediatr Ophthalmol Strabismus 44:202-6. 2007
Resolution of superior oblique myokymia with memantineSaurabh Jain
Leicester Royal Infirmary, Leicester, United Kingdom
J AAPOS 12:87-8. 2008..After a drug holiday, memantine therapy was initiated resulting in a substantial improvement in her symptoms with far fewer side effects and stability on long-term maintenance therapy...
Square wave jerks in children and adolescentsMichael S Salman
Section of Pediatric Neurology, Children s Hospital, University of Manitoba, Winnipeg, Manitoba, Canada
Pediatr Neurol 38:16-9. 2008..The prevalence of square wave jerks is high in children and adolescents. This finding may be a feature of the less mature brain, and may reflect an inability to suppress unwanted supranuclear triggers for saccades...
Wall-eyed bilateral internuclear ophthalmoplegia in a patient with progressive supranuclear palsyMunetaka Ushio
Department of Otolaryngology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan
J Neuroophthalmol 28:93-6. 2008....
Selective saccadic palsy after cardiac surgeryScott D Z Eggers
Department of Neurology, Mayo Clinic College of Medicine, 200 First St. SW, Rochester, MN 55905, USA
Neurology 70:318-20. 2008
Modeling Uhthoff's phenomenon in MS patients with internuclear ophthalmoparesisS L Davis
Institute for Exercise and Environmental Medicine, Presbyterian Hospital of Dallas, TX, USA
Neurology 70:1098-106. 2008....
Fibrotic superior oblique and superior rectus muscles with an accessory tissue bandSeyhan B Ozkan
Adnan Menderes University, Department of Ophthalmology, Aydin, Turkey
J AAPOS 11:491-4. 2007..To the best of our knowledge, there is only one partially similar case in the literature with coexistence of congenitally fibrotic superior rectus and superior oblique muscles, and the features of that case differ from those of our case...
Active management in patients with ocular manifestations of myasthenia gravisC R Bentley
Moorfields Eye Hospital, London, UK
Eye 15:18-22. 2001..Active intervention should be considered when deviations become stable. To our knowledge this is the first report of the use of botulinum toxin in such patients...
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard S Chang
Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
Ann Neurol 53:596-606. 2003..Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed...
Medial rectus muscle incarceration in pediatric medial orbital wall trapdoor fracturesT J McCulley
Stanford University School of Medicine, Department of Ophthalmology, Stanford, California 94304 5353, USA
Eur J Ophthalmol 14:330-3. 2004..We describe two cases of orbital trapdoor fractures with medial rectus muscle incarceration...
Internuclear ophthalmoplegia: causes and long-term follow-up in 65 patientsI Bolaños
Department of Neuroophthalmology, Instituto Nacional de Neurologia y Neurocirugia Manuel Velasco Suarez, Mexico City, Mexico
Acta Neurol Scand 110:161-5. 2004..To analyze the causes and long-term clinical outcome of internuclear ophthalmoplegia (INO) in a consecutive series of 65 patients...
[The effect of weakening inferior oblique muscles on the status of ocular torsion]Guang huan Mai
Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou 510060, China
Zhonghua Yan Ke Za Zhi 40:243-6. 2004..To understand the clinical significance of subjective and objective examination of cyclodeviations and investigate the effect of weakening inferior oblique muscles on the status of ocular torsion...
Surgical treatment of upgaze palsy in Parinaud's syndromeEdward G Buckley
Pediatric Department, Duke University Eye Center, Durham, NC 27710, USA
J AAPOS 8:249-53. 2004..There are only a few reports on the treatment of this problem in the literature. Patients with Parinaud's syndrome may also have retraction nystagmus and convergence on attempted upgaze that further complicates the treatment...
[Comments on Cogan's syndrome (congenital oculomotor apraxia) based on a case]L De Benito
, , Madrid,
Arch Soc Esp Oftalmol 79:189-92. 2004..There have been cases associated with neurological misdevelopment, systemic diseases, metabolic deficits and chromosomic abnormalities...
Quantitative evaluation of ocular motility in blow-out fractures for selection of nonsurgically managed casesYasuhiro Nishida
Department of Ophthalmology, Shiga University of Medical Science, Tsukinowa, Otsu, Shiga, Japan
Am J Ophthalmol 137:777-9. 2004..To clarify in which cases of blow-out fractures ocular motility will naturally recover...
Large-segment superior oblique tendon expanders in the management of severe congenital Brown syndromeAbdulaziz H Awad
Department of Medical Education, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
J AAPOS 7:274-8. 2003..The use of a large-segment (10- to 12-mm) band seems to be an appropriate choice when dealing with patients having primary-position hypotropia > 20 prism diopters...
Acquired brown syndrome secondary to superior oblique muscle cysticercosisVenkateshwar B Rao
Department of Pediatric Ophthalmology and Strabismus, Jasti V. Ramanamma Children's Eye Care Centre, L.V. Prasad Eye Institute, Hyderabad, India
J AAPOS 7:23-7. 2003..Awareness of this condition, which leads to early diagnosis and institution of prompt medical treatment, results in a successful clinical outcome...
Ocular torsion produced by unilateral chemical inactivation of the cerebellar flocculus in alert catsShinki Chin
Department of Ophthalmology and Visual Sciences, Hokkaido University, Sapporo, Japan
Curr Eye Res 25:133-8. 2002..Muscimol infusion into the caudal flocculus did not induce consistent effects on ocular torsion. CONCLUSION: The cerebellar flocculus plays a key role in the maintenance of torsional eye position...
[Eye movement: from basic semiology to cognitive neuroscience]Charles Pierrot-Deseilligny
INSERM 679 et Service de Neurologie 1, , , 75651 Paris Cedex 13
Bull Acad Natl Med 189:1505-15; discussion 1515-7. 2005..Eye movements can be used for bedside diagnostic purposes, but also for sophisticated laboratory studies designed to explore the universe of cognition...
What is pathological with gaze shift fragmentation in Parkinson's disease?Hubert Kimmig
Neurologische Universitatsklinik, Breisacher Strasse 64, 79106 Freiburg, Germany
J Neurol 249:683-92. 2002..Thus, only the abnormally high incidence of fragmentation, and of the associated amplitude reduction of the primary saccades, rather than the phenomenon per se, can be used as a diagnostic criterion in early stages of PD...
Cerebellar activation in opsoclonus: an fMRI studyC Helmchen
Department of Neurology, University of Lubeck, Germany
Neurology 61:412-5. 2003..The results support a crucial role of the fastigial nucleus in opsoclonus...
Tendon surgery in Brown's syndromeR Maggi
Bambino Gesu Children's Hospital, Rome, Italy
J Pediatr Ophthalmol Strabismus 39:33-8. 2002..Our findings suggest that delayed development of the trochlea may be a possible cause of Brown's syndrome...
Extraocular muscle cysticercosis - a clinical challenge to the ophthalmologistsPadmaja Minakshi Sundaram
Department of Neuro Ophthalmology, Medical Research Foundation, Sankara Nethralaya
Orbit 23:255-62. 2004..To report our experience with extraocular myocysticercosis, to highlight the role of ultrasound and orbital computerized tomography (CT) scan in these cases and to discuss the management...
Bilateral acquired Brown syndrome in systemic sclerodermaAcun Gezer
Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Capa 34390, Istanbul, Turkey
J AAPOS 9:195-7. 2005
Bilateral internuclear ophthalmoplegia in progressive supranuclear palsy with an overriding oculocephalic maneuverAlexander C Flint
Neurological Institute of New York, New York City, New York, USA
Mov Disord 20:1069-71. 2005..In addition to being an unusual finding in the clinical setting of PSP, this phenomenon has interesting implications for the functional control of conjugate horizontal gaze...
Antielevation syndrome after unilateral anteriorization of the inferior oblique muscleYoonae A Cho
Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea
Korean J Ophthalmol 20:118-23. 2006..To report antielevation syndrome with restriction of elevation on abduction in the operated eye and overaction (OA) of the inferior oblique muscle (IO) of the contralateral eye after unilateral IO anteriorization (AT)...
[Visual-oculomotor and vestibular-oculomotor abnormalities in Parkinson's disease]Henryk Kaźmierczak
Katedra i Klinika Otolaryngologii Collegium Medicum im L Rydygiera w Bydgoszczy Uniwersytetu Mikołaja Kopernika w Toruniu
Otolaryngol Pol 60:21-4. 2006..The results show that visual reflexes are often disturbed in Parkinson's disease and suggest the possibility that subcortical neurons, not thalamus are engaged in reflex eye movements...
Superior oblique posterior tenectomy in patients with Brown syndrome with small deviations in the primary positionFederico G Velez
Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095, USA
J AAPOS 10:214-9. 2006..SO posterior tenectomy moderately weakens abduction and depression while preserving most of the torsional action of the SO muscle...
Surgical outcomes in correction of Brown syndromeYoonae A Cho
Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea
Korean J Ophthalmol 20:33-40. 2006..To evaluate the outcomes of surgery for Brown syndrome...
Canine tooth syndrome due to superior oblique myocysticercosisPramod Kumar Pandey
Strabismus Service, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi 110002, India
J Pediatr Ophthalmol Strabismus 43:185-7. 2006..Oral treatment was prescribed. MRI revealed a collapsed cyst. Ocular motility improved, but levoelevation diplopia persisted...
Improving antisaccade performance in adolescents with attention-deficit/hyperactivity disorder (ADHD)Canan Karatekin
Institute of Child Development, University of Minnesota, 51 E River Road, Minneapolis, MN 55455, USA
Exp Brain Res 174:324-41. 2006..The findings suggest that cognitive scaffolds can ameliorate at least some of the inhibition deficits in adolescents with ADHD...
Eye movement abnormalities in stiff person syndromeJohn R Economides
Beckman Vision Center, University of California, San Francisco, CA 94143-0730, USA
Neurology 65:1462-4. 2005..There was no evidence of ocular myasthenia, indicating that abnormalities of ocular motor function can occur as a primary manifestation of SPS, perhaps from depletion of GABA...
Cerebellar skew deviation and the torsional vestibuloocular reflexAgnes M F Wong
Division of Neurology, Department of Ophthalmology and Vision Science, University Health Network, University of Toronto, Ontario, Canada
Neurology 65:412-9. 2005....
High-resolution magnetic resonance imaging demonstrates varied anatomic abnormalities in Brown syndromeRahul Bhola
Jules Stein Eye Institute, David Geffen School of Medicine, University of California-Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095-7002, USA
J AAPOS 9:438-48. 2005..Management in Brown syndrome should be tailored to the pathophysiology of the individual patient...
Research Grants
- FUNCTIONAL RESPONSES OF EXTRAOCULAR EYE MUSCLES TO T3Neal Rubinstein; Fiscal Year: 2005..causal relationship between the organization of MyHC isoforms and the behavior of these atypical muscles and to establish a rationale for alternative surgical and pharmacological therapies of ocular motility disorders.
- Motion Perception in SchizophreniaGunvant Thaker; Fiscal Year: 2007..The proposed project is a collaborative effort--involving clinical scientists studying schizophrenia pathophysiology and basic scientists studying motion perception and eye movements. ..
- SARCOLEMMAL ORGANIZATION OF EXTRACULAR MUSCLEJohn Porter; Fiscal Year: 2004..An overall knowledge of the properties and regulation of the EOM sarcolemma will be important for understanding and treating ocular motility disorders in myasthenia gravis, congenital fibrosis of EOM, and strabismus.
- PRIMATE SMOOTH EYE MOVEMENTSMICHAEL MUSTARI; Fiscal Year: 2002..This understanding is necessary for the diagnosis and management of ocular-motility disorders. ..
- CELL AND MOLECULAR DIVERSITY OF EXTRAOCULAR MUSCLEJohn Porter; Fiscal Year: 1999..knowledge of EOM properties and adaptive/maladaptive responses in disease will provide a mechanistic understanding of ocular motility disorders that occur in isolation from or in conjunction with those of other skeletal muscles.
- Convergence Insuffiency Treatment TrialMitchell Scheiman; Fiscal Year: 2006..It includes the budget for the Study Chair's office, revised budgets for the clinical centers, the results of pilot studies funded by an NEI Clinical Trial Planning Grant, and the CITT Manual of Procedures. ..
- fMRI of Eye Movement Phenotype in SchizophreniaL Hong; Fiscal Year: 2007....
- COLLABORATIVE OBSERVATIONAL STUDY OF MYOPIA IN COMET CHILDRENMitchell Scheiman; Fiscal Year: 2007..In addition to PCO, the other clinical centers are located at Colleges of Optometry in Boston, Houston, and Birmingham, with the Study Chair in Boston and the Coordinating Center at Stony Brook. ..
- Bipolar & Schizophrenia Consortium for Parsing Intermediate PhenotypesGunvant Thaker; Fiscal Year: 2009....
- Shared Neural Circuitry in Comorbid Schizophrenia and Nicotine AddictionL Elliot Hong; Fiscal Year: 2010....
- Bipolar & Schizophrenia Consortium for Parsing Intermediate PhenotypesGunvant Thaker; Fiscal Year: 2007....
- Identifying molecular path of behavioural phenotype in schizophreniaL Hong; Fiscal Year: 2007..This project aims to identify genes and gene products associated with one of these core deficits called eyetracking abnormality in schizophrenia so that drugs can be developed to treat these core physiological and cognitive deficits. ..
- Neural Oscillatory Biomarkers for Genetics and Animal Models of SchizophreniaL Elliot Hong; Fiscal Year: 2010....
- RESEARCH TRACK RESIDENCY TRAINING PROGRAMGunvant Thaker; Fiscal Year: 2007....
- FAMILIAL SCHIZOPHRENIA SPECTRUM PERSONALITY DISORDERSGunvant Thaker; Fiscal Year: 2007..Clinical information, electrophysiological and cognitive measures will be collected and compared among the groups using standard family case control analytic procedures. ..
- Bipolar & Schizophrenia Consortium for Parsing Intermediate PhenotypesGunvant K Thaker; Fiscal Year: 2010....
- FAMILIAL SCHIZOPHRENIA SPECTRUM PERSONALITY DISORDERSGunvant Thaker; Fiscal Year: 2001..Other neurocognitive measures will be compared in these four groups. And we will explore the ability of eye tracking measures alone, cognitive measures alone and the measures in combination in accurately predicting relative status. ..
- Liability Markers for Deficit Schizophrenia?L Hong; Fiscal Year: 2004..We plan to use the preliminary data collected from this grant support to guide our full-scale search for phenotypic markers specifically associated with the liability for deficit schizophrenia and subsequent molecular genetic studies. ..
- Genetics of Familial Episodic AtaxiaJoanna C Jen; Fiscal Year: 2010..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
- Short-term Training Students-Health Professional SchoolsKENNETH CIUFFREDA; Fiscal Year: 2006..Trainees will consist of optometry students who have just completed either their first or second professional years, and have done well academically (3.5 gpa or better). All will have an undergraduate degree, generally in the sciences. ..
- Integrating Quality Control: Studies of CHIP in Age-related NeurodegenerationHenry Paulson; Fiscal Year: 2009..Understanding this machinery may suggest routes to therapy for a large range of sporadic and hereditary neurodegenerative diseases that occur as we age. ..
- Mechanisms of Polyglutamine NeurodegenerationHenry L Paulson; Fiscal Year: 2010..This grant will explore the basis of SCA3 in order that we can ultimately develop therapies for this fatal disease based on a better understanding of disease mechanisms. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth Engle; Fiscal Year: 2007..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
- Genetic Etiologies of Horizontal StrabismusElizabeth Engle; Fiscal Year: 2007..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
- Genetic Etiologies of Horizontal StrabismusElizabeth Engle; Fiscal Year: 2007..And (5) Initiating structural and functional characterization of the horizontal CCDD genes and their protein products. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth Engle; Fiscal Year: 2009..Aim 3: Define the cellular consequences of the R954W amino acid substitution on the developing and mature ocular motor axis in mice. Aim 4: Identify KIF21A protein binding partners. ..
- Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)Joanna C Jen; Fiscal Year: 2010..abstract_text> ..
- OCULAR MOTOR AND NEUROANATOMIC STUDIES OF SCHIZOPHRENIABRETT CLEMENTZ; Fiscal Year: 2003..In this regard, it will be especially important to refine stimulus conditions to the point where measurement error is reduced as much as is practically feasible, a goal toward which we will aspire with our proposed research. ..
- CONVERGENCE INSUFFICIENCY TREATMENT TRIALMarjean Kulp; Fiscal Year: 2006..S. The Study Chair is located at the Pennsylvania College of Optometry and the national Data Coordinating Center is located at The Ohio State University Optometry Coordinating Center. ..
- Mechanisms of Polyglutamine NeurodegenerationHenry Paulson; Fiscal Year: 2007..They may also shed light on the role of protein quality control, and particularly of de-ubiquitinating enzymes, in age-related neurodegenerative diseases characterized by protein misfolding and aggregation. ..
- Outcome Measures in Idiopathic Intracranial HypertensionDeborah Friedman; Fiscal Year: 2007..Acquire the training, mentoring and experience necessary to conduct independent, funded clinical research in ophthalmologic and neurological disorders Obtain a Masters Degree in Public Health/Clinical Investigator track ..
- THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPSJoanna Jen; Fiscal Year: 2009..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
- Genetic and anatomic basis of the fibrosis syndromesElizabeth Engle; Fiscal Year: 2005..These data will be invaluable to our understanding of the developmental roles of these genes, and should also contribute to improved therapy of the fibrosis syndromes. ..
- CONVERGENCE INSUFFICIENCY TREATMENT TRIALMarjean Kulp; Fiscal Year: 2005..In addition to TOSUCO, there are 8 other optometric/ophthalmologic clinic sites across the U.S., Study Chair (Philadelphia) and the national Coordinating Center (also located at TOSUCO). ..
- Study of Carotid Occlusion and Neurocognition (RECON)RANDOLPH MARSHALL; Fiscal Year: 2007....
- MEG STUDIES OF P50 SUPPRESSION IN SCHIZOPHRENIABRETT CLEMENTZ; Fiscal Year: 2007..In addition, dysfunction of left auditory cortex impedes proper inter-hemispheric communication, which interferes with the ability to generate normal recognition-type responses measured during oddball-type paradigms. ..
- MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIAJoanna Jen; Fiscal Year: 2002..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
