4,887 results match your criteria nystagmus ocular


Quantitative analysis of the biomechanical response of semicircular canals and nystagmus under different head positions.

Hear Res 2021 Jun 6;407:108282. Epub 2021 Jun 6.

School of Information and Communication Engineering, Dalian University of Technology, Dalian 116024, China. Electronic address:

The semicircular canals (SCCs) in the vestibular system can sense angular motion of the head, which performs a crucial role in maintaining the human's sense of balance. The different spatial orientations of the head affect the response of human SCCs to rotational movement. In this study, we combined the numerical model of bilateral human SCCs with vestibulo-ocular reflex experiments, and quantitatively investigated the responses of SCCs to constant angular acceleration when the head was in different left-leaning positions, including the head tilted 0°, 15°, 30°, 45°, 60°, 70°, 80°, and 90° to the left. Read More

View Article and Full-Text PDF

Longitudinal genotype-phenotype analysis in 86 PAX6-related aniridia patients.

JCI Insight 2021 Jun 8. Epub 2021 Jun 8.

Department of Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.

Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterised by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma and aniridia related keratopathy (ARK). Genotype-phenotype correlations have previously been described, however detailed longitudinal studies of aniridia are less commonly reported. We identified eighty-six patients from sixty-two unrelated families with molecularly confirmed heterozygous PAX6 variants from a United Kingdom (UK)-based single-centre ocular genetics service. Read More

View Article and Full-Text PDF

Cerebellitis in a human T-lymphotropic virus type 1 carrier: a case report.

BMJ Case Rep 2021 Jun 7;14(6). Epub 2021 Jun 7.

Department of Neurology, Tokai University School of Medicine, Isehara, Kanagawa, Japan.

Human T-lymphotropic virus type I (HTLV-I) is a retrovirus associated with adult T-cell lymphoma (ATL) and HTLV-I-associated myelopathy/tropical spastic paraparesis (HAM/TSP). In addition to HAM/TSP and ATL, HTLV-I-associated encephalopathy and cerebellar involvement have been reported. We report a case of an 87-year-old Japanese woman presenting with progressive dysarthria and gait disturbance. Read More

View Article and Full-Text PDF

Prevalence of Vestibular Disorders in Independent People Over 50 That Experience Dizziness.

Front Neurol 2021 20;12:658053. Epub 2021 May 20.

Balance and Vision Laboratory, Neuroscience Research Australia, Sydney, NSW, Australia.

People aged over 50 are the most likely to present to a physician for dizziness. It is important to identify the main cause of dizziness in order to develop the best treatment approach. Our goal was to determine the prevalence of benign paroxysmal positional vertigo (BPPV), and peripheral and central vestibular function in people that had experienced dizziness within the past year aged over 50. Read More

View Article and Full-Text PDF

Analysis of anomalous head posturing in patients with infantile nystagmus syndrome.

J AAPOS 2021 Jun 1. Epub 2021 Jun 1.

Akron Children's Hospital Vision Center, Akron, Ohio; The Considine Research Institute, Akron Children's Hospital, Akron, Ohio.

Purpose: To investigate anomalous head posturing in patients with INS.

Methods: This was a prospective, cohort analysis of clinical and anomalous head posture (AHP) data in 34 patients with INS and an AHP. Particular outcome measures included measurement of AHP in three dimensions of pitch (anterior posterior flexion/extension), yaw (lateral rotation), and roll (lateral flexion) during best-corrected binocular acuity testing and during their subjective sense of straight. Read More

View Article and Full-Text PDF

Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Sci Rep 2021 Jun 2;11(1):11572. Epub 2021 Jun 2.

Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Read More

View Article and Full-Text PDF

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Eur J Ophthalmol 2021 Jun 2:11206721211021291. Epub 2021 Jun 2.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients' ocular manifestations to provide a basis for future clinical trials and improve MSS patients' ophthalmologic care.

Case Description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. Read More

View Article and Full-Text PDF

Expanding the Phenotypic Spectrum of Mutations: From Congenital Cataracts to Nystagmus.

Genes (Basel) 2021 May 9;12(5). Epub 2021 May 9.

Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.

Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the gene. The clinical phenotype of mutations is highly variable, making the genotype-phenotype correlations difficult to establish.

Methods: we describe the phenotype of eight patients from seven unrelated families with confirmed mutations in , and very different clinical manifestations. Read More

View Article and Full-Text PDF

Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome.

Nephron 2021 May 31:1-6. Epub 2021 May 31.

Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.

Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases. Read More

View Article and Full-Text PDF

The differential diagnostic value of a battery of oculomotor evaluation in Parkinson's Disease and Multiple System Atrophy.

Brain Behav 2021 May 30:e02184. Epub 2021 May 30.

Department of Neurology, Peking University First Hospital, Beijing, China.

Introduction: Clinical diagnosis of Parkinsonism is still challenging, and the diagnostic biomarkers of Multiple System Atrophy (MSA) are scarce. This study aimed to investigate the diagnostic value of the combined eye movement tests in patients with Parkinson's disease (PD) and those with MSA.

Methods: We enrolled 96 PD patients, 33 MSA patients (18 with MSA-P and 15 with MSA-C), and 40 healthy controls who had their horizontal ocular movements measured. Read More

View Article and Full-Text PDF

Neuroophthalmic Manifestations of Intracranial Tumours in Children.

Case Rep Ophthalmol Med 2021 15;2021:7793382. Epub 2021 May 15.

Department of Neurosurgery, Dr. D.Y. Patil Medical College and Hospital, Pimpri, Pune, Maharashtra, India.

Background: All children between 0 and 16 years presenting with brain tumours confirmed by Magnetic Resonance Imaging (MRI) and treated surgically in our institute were included in this study.

Objective: The aim of this study is to evaluate the neuroophthalmic and clinical characteristics of intracranial space occupying lesions in children.

Methods: Neuroophthalmic manifestations along with location of the tumour by contrast-enhanced MRI, type of surgical intervention, and postoperative histopathological diagnosis were evaluated. Read More

View Article and Full-Text PDF

Atypical neurological manifestations in Wernicke's encephalopathy due to hyperemesis gravidarum.

Nutr Neurosci 2021 May 27:1-6. Epub 2021 May 27.

Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Objectives: Hyperemesis gravidarum is known to induce nutritional, water and electrolyte deficiencies which can be fatal if not treated urgently. Thiamine deficiency may lead to a constellation of neurological symptoms that include Wernicke encephalopathy. Moreover, Wernicke encephalopathy is typically manifested as ocular paresis, ataxia and confusion. Read More

View Article and Full-Text PDF

Management of albinism: French guidelines for diagnosis and care.

J Eur Acad Dermatol Venereol 2021 Jul 27;35(7):1449-1459. Epub 2021 May 27.

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Read More

View Article and Full-Text PDF

Outcomes of Bilateral Congenital and Developmental Cataracts Following IOL Implantation in Preschool Children.

J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):180-187. Epub 2021 May 1.

Purpose: To evaluate the different ocular outcomes and the potential factors affecting visual acuity in bilateral congenital cataracts and developmental cataracts after intraocular lens implantation in preschool children.

Methods: In a retrospective study, 86 eyes (51 congenital and 35 developmental cataract cases) of 43 children aged 6 years and younger who were diagnosed as having bilateral cataracts and underwent cataract aspiration combined with primary or secondary foldable intraocular lens implantation between 2003 and 2018 were reviewed. A minimum of 1 year of follow-up was required. Read More

View Article and Full-Text PDF

Clinical and Electrophysiological Outcomes After Eye Muscle Surgery in 81 Adults With Infantile Nystagmus Syndrome.

J Pediatr Ophthalmol Strabismus 2021 Mar-Apr;58(2):93-104. Epub 2021 Mar 1.

Purpose: To characterize the effects of eye muscle surgery on patients older than 18 years with infantile nystagmus syndrome (INS) who have had only optical treatment.

Methods: This was a prospective, single-center, interventional case series analysis of clinical and electro-phyisological data before and after surgery. Outcome measures included: clinical characteristics, surgical procedure, and preoperative and postoperative binocular best corrected visual acuity (BCVA) in the null position, anomalous head posture (AHP), contrast sensitivity, strabismic deviation, and nystagmus acuity function (NAFX). Read More

View Article and Full-Text PDF

Primary intracranial germ cell tumour originating from right brachium Pontis with hypertrophic Olivary degeneration: a case report.

BMC Neurol 2021 May 25;21(1):210. Epub 2021 May 25.

Department of Radiation Oncology, Beijing Tiantan Hospital, Capital Medical University, 119, South 4th Ring West Road, Fengtai District, Beijing, China.

Background: Primary right brachium pontis germinoma with hypertrophic olivary degeneration (HOD) is extremely rare. A preoperative diagnosis is challenging due to the absence of characterized clinical and neuroimaging features, and biopsy should be considered.

Case Presentation: A 20-year-old male patient presented with a case of primary intracranial germinoma originating from right brachium pontis with HOD manifesting as ocular myoclonus, nystagmus in both eyes, ataxic gait and incoordination of the limbs. Read More

View Article and Full-Text PDF

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Dev Med Child Neurol 2021 May 24. Epub 2021 May 24.

Department of Neurology, CDKL5 Center of Excellence, Boston Children's Hospital, Boston, MA, USA.

Aim: To characterize the neuro-ophthalmological phenotype of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a reproducible, quantitative outcome measure.

Method: We retrospectively analyzed clinical data from patients with CDD. Complete neuro-ophthalmological assessments, including visual acuity, were evaluated. Read More

View Article and Full-Text PDF

A novel variant in PAX6 as the cause of aniridia in a Chinese family.

BMC Ophthalmol 2021 May 20;21(1):225. Epub 2021 May 20.

Department of Ophthalmology, Chinese PLA General Hospital, 100853, Beijing, China.

Background: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly.

Methods: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation. Read More

View Article and Full-Text PDF

The best thickness of cornea graft from SMILE surgery as patch graft in glaucoma drainage implant surgery.

Medicine (Baltimore) 2021 May;100(20):e25828

Xiamen University Affiliated Xiamen Eye Center, Xiamen.

Objective: The aim of this study was to determine the best thickness of corneal slices acquired from femtosecond laser surgery-small incision lenticule extraction (SMILE surgery) as patch graft in glaucoma drainage implantation surgery.

Methods: This study is a prospective randomized study. Patients who received glaucoma drainage implantation from September 2016 to November 2018 were observed. Read More

View Article and Full-Text PDF

Modeling the interaction among three cerebellar disorders of eye movements: periodic alternating, gaze-evoked and rebound nystagmus.

J Comput Neurosci 2021 May 18. Epub 2021 May 18.

Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

A woman, age 44, with a positive anti-YO paraneoplastic cerebellar syndrome and normal imaging developed an ocular motor disorder including periodic alternating nystagmus (PAN), gaze-evoked nystagmus (GEN) and rebound nystagmus (RN). During fixation there was typical PAN but changes in gaze position evoked complex, time-varying oscillations of GEN and RN. To unravel the pathophysiology of this unusual pattern of nystagmus, we developed a mathematical model of normal function of the circuits mediating the vestibular-ocular reflex and gaze-holding including their adaptive mechanisms. Read More

View Article and Full-Text PDF

Involuntary "Voluntary" Nystagmus.

J Neuroophthalmol 2021 Apr 26. Epub 2021 Apr 26.

New Jersey Neuroscience Institute, Edison, NJ.

Background: Voluntary nystagmus is a common phenomenon in the general population and is believed to be under voluntary control. Some patients have an eye movement disorder indistinguishable from voluntary nystagmus and yet have no control over these movements.

Methods: Four patients with involuntary eye movements consisting of spontaneous or induced bursts of saccadic eye movements with no intersaccadic interval are described. Read More

View Article and Full-Text PDF

Mild Bilateral Internuclear Ophthalmoplegia: The Diagnostic Role of the Vertical Posterior Canal Vestibulo-Ocular Reflex in Acute Brainstem Demyelination, a Clinical-Radiologic Correlation.

J Neuroophthalmol 2021 Apr 26. Epub 2021 Apr 26.

Department of Neurology, University of Illinois College of Medicine, Peoria, Illinois and the Illinois Neurologic Institute, Saint Francis Medical Center, Peoria, Illinois.

Background: The ocular signs of internuclear ophthalmoplegia (INO) with slow, restricted adduction of one eye and abduction nystagmus of the contralateral eye are easily recognized and have a high localizing/lateralizing value. However, subtle INO is difficult to diagnose. Recent reports identified novel vestibular abnormalities in unilateral and bilateral INO. Read More

View Article and Full-Text PDF

Safety and improved efficacy signals following gene therapy in childhood blindness caused by mutations.

iScience 2021 May 11;24(5):102409. Epub 2021 Apr 11.

Department of Pediatrics, Division of Cellular and Molecular Therapy, University of Florida College of Medicine, Gainesville, FL, USA.

A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the gene is underway, and early results are summarized. A recombinant adeno-associated virus serotype 5 (rAAV5) vector carrying the human gene was delivered by subretinal injection to one eye in three adult patients with severe visual loss, nystagmus, but preserved retinal structure. Safety and efficacy parameters were monitored for 9 months post-operatively. Read More

View Article and Full-Text PDF

Stroke Prediction Based on the Spontaneous Nystagmus Suppression Test in Dizzy Patients: A Diagnostic Accuracy Study.

Neurology 2021 May 13. Epub 2021 May 13.

Department of Otorhinolaryngology, Head and Neck Surgery, Inselspital, University Hospital Bern and University of Bern, Bern, Switzerland.

ObjectiveFailure of fixation suppression of spontaneous nystagmus is sometimes seen in patients with vestibular strokes involving the cerebellum or brainstem, however, the accuracy of this test for the discrimination between peripheral and central causes in patients with an acute vestibular syndrome (AVS) is unknown.MethodsPatients with AVS were screened and recruited (convenience sample) as part of a prospective cross-sectional study in the Emergency Department between 2015-2020. All patients received neuroimaging which served as a reference standard. Read More

View Article and Full-Text PDF

Gaze-holding and anti-GAD antibody: prototypic heterogeneous motor dysfunction in immune disease.

Cerebellum 2021 May 11. Epub 2021 May 11.

Department of Neurology, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Cleveland, OH, 44110, USA.

The variability in motor dysfunction is not uncommon in autoimmune disorders. Antibody-mediated system-wide malfunction or effects on the neural network shared by two independent pathophysiological processes can cause such heterogeneity. We tested this prediction for motor dysfunction during gaze holding in 11 patients with increased titers of glutamic acid decarboxylase (anti-GAD) antibody. Read More

View Article and Full-Text PDF

Visual outcomes in children with syndromic craniosynostosis: a review of 165 cases.

Eye (Lond) 2021 May 10. Epub 2021 May 10.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

Objective: To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes.

Methods: We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. Read More

View Article and Full-Text PDF

Clinical, oculographic, and vestibular test characteristics of vestibular migraine.

Cephalalgia 2021 May 2:3331024211006042. Epub 2021 May 2.

Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Background: We characterise the history, vestibular tests, ictal and interictal nystagmus in vestibular migraine.

Method: We present our observations on 101 adult-patients presenting to an outpatient facility with recurrent spontaneous and/or positional vertigo whose final diagnosis was vestibular migraine (n = 27) or probable vestibular migraine (n = 74). Ictal and interictal video-oculography, caloric and video head impulse tests, vestibular-evoked myogenic potentials and audiometry were performed. Read More

View Article and Full-Text PDF

Afferent and Efferent Neuro-Ophthalmic Complications of Coronavirus Disease 19.

J Neuroophthalmol 2021 06;41(2):154-165

Department of Ophthalmology and Visual Sciences (AKT), University of Iowa Hospital and Clinics, University of Iowa Carver College of Medicine, Iowa City, Iowa; Departments of Ophthalmology and Neurology (MD), New York- Presbyterian Hospital, Weill Cornell Medical College, New York City, New York; Department of Ophthalmology (BKC), Massachusetts Eye & Ear; and Department of Neurology (BKC), Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Purpose: To provide a summary of the neuro-ophthalmic manifestations of coronavirus disease 19 (COVID-19) documented in the literature thus far.

Methods: The PubMed and Google Scholar databases were searched using the keywords: Neuro-Ophthalmology, COVID-19, SARS-CoV-2, and coronavirus. A manual search through reference lists of relevant articles was also performed. Read More

View Article and Full-Text PDF

Left Ponto-Mesencephalic Infarcts Causing an Ocular Tilt Reaction With Ipsilesional Torsional Nystagmus [TN] and Lateral Alternating Skew Deviation [LASD].

Ann Indian Acad Neurol 2021 Jan-Feb;24(1):87-89. Epub 2020 Jun 5.

Department of Neurology, Aster Medcity, Kothad, Kochi, Kerala, India.

View Article and Full-Text PDF

Acute Acquired Comitant Esotropia: Etiology, Clinical Course, and Management.

Clin Ophthalmol 2021 15;15:1567-1572. Epub 2021 Apr 15.

Department of Ophthalmology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Purpose: To identify the etiologies, clinical course and management of acute acquired comitant esotropia in Ramathibodi Hospital, Thailand.

Methods: Thirty patients who were diagnosed with acute acquired comitant esotropia at Ramathibodi Hospital from January 1 2017 to December 31 2019 were identified using electronic medical records, from which demographic, etiology, clinical course and management, laboratory, and neuroimaging data were collected.

Results: The etiologies of acute acquired comitant esotropia were Swan (16. Read More

View Article and Full-Text PDF