Classification of vestibular signs and examination techniques: Nystagmus and nystagmus-like movements.

This paper presents a classification and definitions for types of nystagmus and other oscillatory eye movements relevant to evaluation of patients with vestibular and neurological disorders, formulated by the Classification Committee of the Bárány Society, to facilitate identification and communication for research and clinical care. Terminology surrounding the numerous attributes and influencing factors necessary to characterize nystagmus are outlined and defined. The classification first organizes the complex nomenclature of nystagmus around phenomenology, while also considering knowledge of anatomy, pathophysiology, and etiology. Nystagmus is distinguished from various other nystagmus-like movements including saccadic intrusions and oscillations.View accompanying videos at http://www.jvr-web.org/ICVD.html.

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder? / Sincinesia troclear-oculomotora: outro distúrbio congênito de denervação craniana?

ABSTRACT This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

RESUMO Este relato descreve um fenômeno incomum. Uma menina de 6 anos com sincinesia troclear-oculomotora apresentou co-contração do oblíquo superior e do levantador da pálpebra. A literatura foi revisada e especulou-se a possibilidade de classificar essa desordem como um distúrbio da congenital cranial dysinnervation disorder.

Trochlear-oculomotor synkinesis: another congenital cranial dysinnervation disorder?

This report documents an unusual phenomenon. A 6-year-old girl with trochlear-oculomotor synkinesis presented with superior oblique and palpebral levator co-contraction. The literature was reviewed and the possibility of classifying this entity as a congenital cranial dysinnervation disorder was speculated.

[Sensory and motor clinical presentation of congenital retraction syndromes: Stilling-Duane and Brown syndrome]. / Aspects cliniques sensoriels et moteurs des syndromes de rétractions congénitaux : syndrome de Stilling-Duane et syndrome de Brown.

INTRODUCTION: Congenital Brown syndrome and Stilling-Duane syndrome, two rare causes of strabismus are caused by fibrosis of one or more extraocular muscles. This series aims to report the clinical sensory and motor features of patients with Brown or Stilling-Duane syndrome. METHODS: Seventeen patients' records were retrospectively assessed for: the ocular deviation in primary position and in the 9 positions of gaze, head tilt, visual acuity and binocular vision. RESULTS: Eleven patients with Stilling-Duane syndrome had a mean age of 12 years, and monocular involvement, most frequently of type I. The ocular deviation was variable; 16 patients had an abnormal head position, while 50 % presented with amblyopia, and only 37 % achieved fusion in the compensatory head posture. Six patients presented with congenital Brown syndrome at mean age of 6 years. Three had a moderate form, 3 had a severe form with vertical deviation in primary position, compensatory head position, amblyopia and binocular vision impairment. DISCUSSION: The motility impairments depend highly on the identified syndrome, its classification and its severity. Therefore, these two retraction syndromes present some common features. Strabismus in primary position may lead to amblyopia and binocular vision impairment. CONCLUSION: Clinical motility and sensory assessment is essential, though difficult, to establish the diagnosis and the management of patients with retraction syndromes.

[Conservative and surgical treatment of convergence excess]. / Konservative und chirurgische Therapie des Konvergenzexzesses.

Convergence excess is a common finding especially in pediatric strabismus. A detailed diagnostic approach has to start after full correction of any hyperopia measured in cycloplegia. It includes measurements of manifest and latent deviation at near and distance fixation, near deviation after relaxation of accommodation with addition of +3 dpt, assessment of binocular function with and without +3 dpt as well as the accommodation range. This diagnostic approach is important for the classification into three types of convergence excess, which require different therapeutic approaches: 1) hypo-accommodative convergence excess is treated with permanent bifocal glasses, 2) norm-accommodative patients should be treated with bifocals which can be weaned over years, especially in patients with good stereopsis and 3) non-accommodative convergence excess and patients with large distance deviations need a surgical approach. The most effective operations include those which reduce the muscle torque, e. g. bimedial Faden operations or Y­splitting of the medial rectus muscles.

Grave complicación en el transcurso de una cirugía de estrabismo / Severe complication during strabismus surgery

CASO CLÍNICO: Paciente de 4 años de edad, que como consecuencia de una inyección de triamcinolona subtenoniana en la región de la tróclea del ojo derecho al finalizar una cirugía para el síndrome de Brown presenta un hematoma orbitario inmediato que al cabo de una semana, cuando se pudo explorar mejor, puso en evidencia la presencia de una mancha rojo-cereza secundaria a la embolización de la arteria central de la retina por cristales de triamcinolona. DISCUSIÓN: La triamcinolona es un antiinflamatorio de uso corriente en oftalmología para el tratamiento de afecciones variadas. Aunque excepcional, se ha descrito que su utilización puede provocar embolizaciones por entrada del esteroide en la circulación

CLINICAL CASE: A 4-year-old patient, who presented with an immediate orbital haematoma as a result of a subtenon injection of triamcinolone in the trochlear region of the right eye on finishing a surgical procedure for Brown's syndrome. After one week, when it could be examined better, the presence of a cherry red spot was observed due to the embolisation of the central artery of the retina by triamcinolone crystals. DISCUSSION: Triamcinolone is an anti-inflammatory drug currently used in Ophthalmology for the treatment of various conditions. Although exceptional, it has been described that its use may provoke embolisations due to the entry of the steroid into the circulation

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.

Relationship between clinical signs and symptoms of convergence insufficiency.

PURPOSE: The percentage of children who are symptomatic has been shown to increase with the number of signs of convergence insufficiency (CI). Our goal was to investigate whether there is a relationship between the severity of the clinical signs of CI and symptom level reported in children with a three-sign symptomatic CI. METHODS: The Convergence Insufficiency Treatment Trial enrolled 221 children with symptomatic CI from ages 9 to 17 years. Inclusion criteria included the following three signs of CI: (1) exophoria at near at least 4Δ greater than at distance, (2) insufficient positive fusional vergence (PFV) at near, and (3) a receded near point of convergence (NPC) of 6 cm break or greater. The relationships between the severity of each sign of CI (mild, moderate, and severe) and the level of symptoms as measured by the Convergence Insufficiency Symptom Survey (CISS) at baseline were evaluated. RESULTS: Mean CISS scores were not significantly different between mild, moderate, and severe exophoria (p = 0.60), PFV blur (p = 0.99), Sheard's criterion (p = 0.89), or NPC break (p = 0.84). There was also no difference between the frequency of subjects scoring at mild, moderate, or severe levels on the CISS and the severity of each sign of CI. Correlations between individual clinical signs and the CISS score were very low and not statistically significant. CONCLUSIONS: Among symptomatic children with a CISS score of 16 or higher and three clinical signs of CI, there is no further association between the severity of the clinical signs and their level of symptoms.

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

IMPORTANCE: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE: To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN Family study of ambulatory patients. Electro-oculographic and genetics studies were performed in 2 referral university centers. SETTING: Primary care institutional center in Spain. PARTICIPANTS: Thirty-six participants from a large Spanish kindred were clinically examined, and 33 family members were genetically examined. Detailed clinical data were obtained from 9 affected relatives. Two ataxic siblings and 2 asymptomatic family members were examined using an enhanced clinical protocol for a follow-up period of 7 years. MAIN OUTCOMES AND MEASURES: High-density genome-wide single-nucleotide polymorphism arrays, along with microsatellite analysis, and genetic linkage studies were performed. Whole-exome sequencing was used for 2 affected relatives. For most patients, the initial symptoms included falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. For all 9 affected relatives, we observed altered vertical eye movements, as initial ocular signs for 3 of them and for the 2 asymptomatic family members, all having inherited the risk haplotype. Neuroimaging showed isolated cerebellar atrophy. RESULTS: Initial genome-wide linkage analysis revealed suggestive linkage to chromosome 1p32. Multipoint analysis and haplotype reconstruction further traced this SCA locus to a 0.66-cM interval flanked by D1S200 and D1S2742 (z(max) = 6.539; P < .0001). The causative mutation was unidentified by exome sequencing. CONCLUSIONS AND RELEVANCE: We report a new subtype of SCA presenting in patients as slow progressing ataxia with altered vertical eye movements linked to a 11-megabase interval on 1p32. The Human Genome Nomenclature Committee has assigned this subtype of ataxia the designation SCA37.

High-throughput classification of clinical populations from natural viewing eye movements.

Many high-prevalence neurological disorders involve dysfunctions of oculomotor control and attention, including attention deficit hyperactivity disorder (ADHD), fetal alcohol spectrum disorder (FASD), and Parkinson's disease (PD). Previous studies have examined these deficits with clinical neurological evaluation, structured behavioral tasks, and neuroimaging. Yet, time and monetary costs prevent deploying these evaluations to large at-risk populations, which is critically important for earlier detection and better treatment. We devised a high-throughput, low-cost method where participants simply watched television while we recorded their eye movements. We combined eye-tracking data from patients and controls with a computational model of visual attention to extract 224 quantitative features. Using machine learning in a workflow inspired by microarray analysis, we identified critical features that differentiate patients from control subjects. With eye movement traces recorded from only 15 min of videos, we classified PD versus age-matched controls with 89.6 % accuracy (chance 63.2 %), and ADHD versus FASD versus control children with 77.3 % accuracy (chance 40.4 %). Our technique provides new quantitative insights into which aspects of attention and gaze control are affected by specific disorders. There is considerable promise in using this approach as a potential screening tool that is easily deployed, low-cost, and high-throughput for clinical disorders, especially in young children and elderly populations who may be less compliant to traditional evaluation tests.

Fractured orbital wall reconstruction with an auricular cartilage graft or absorbable polyacid copolymer.

OBJECTIVE: The objective of the study was to compare the functional and aesthetic results of fractured orbital wall reconstruction with an auricular cartilage graft or absorbable polyacid copolymer. MATERIALS AND METHODS: Twenty patients with blow-out orbital fracture/orbital floor associated or not with the medial wall were assessed by the same craniofacial surgical group. All were evaluated preoperatively and postoperatively by an ophthalmologist for diplopia, enophthalmos, exophthalmos, sensitivity, ophthalmic reflexes, intraocular pressure, and visual field.The patients were subjected to a preoperative facial multislice computed tomographic scan, repeated 6 months after surgery. Eight patients underwent reconstruction with an auricular cartilage graft, and 12 patients, with blade absorbable polyacid copolymer. Subtarsal access was used for all patients. RESULTS: Two patients showed temporary ectropion, 1 in each group. All patients presented satisfactory ocular function, and all tests revealed good orbital delineation, orbital symmetry, periorbital sinus individualization, and reduction of blow-out. CONCLUSIONS: The blow-out orbital wall reconstruction can be performed with the use of an auricular cartilage or with a blade absorbable copolymer without differences regarding functional or aesthetic complications and sequelae.

Nystagmus and saccadic intrusions.

We review current concepts of nystagmus and saccadic oscillations, applying a pathophysiological approach. We begin by discussing how nystagmus may arise when the mechanisms that normally hold gaze steady are impaired. We then describe the clinical and laboratory evaluation of patients with ocular oscillations. Next, we systematically review the features of nystagmus arising from peripheral and central vestibular disorders, nystagmus due to an abnormal gaze-holding mechanism (neural integrator), and nystagmus occurring when vision is compromised. We then discuss forms of nystagmus for which the pathogenesis is not well understood, including acquired pendular nystagmus and congenital forms of nystagmus. We then summarize the spectrum of saccadic disorders that disrupt steady gaze, from intrusions to flutter and opsoclonus. Finally, we review current treatment options for nystagmus and saccadic oscillations, including drugs, surgery, and optical methods. Examples of each type of nystagmus are provided in the form of figures.

Eye movement abnormalities in multiple sclerosis.

Patients with multiple sclerosis commonly describe visual symptoms that result from several eye movement abnormalities that occur from disruption of critical pathways in the brainstem, cerebellum, and cerebral hemispheres. These abnormalities include internuclear ophthalmoplegia, ocular motor palsy, ocular misalignment, pathologic nystagmus, impaired saccades, saccadic intrusions, and impaired pursuit. Detailed knowledge of these problems and their neuroanatomic localization will aid the physician by guiding diagnosis and therapeutic decision making.

Blow-out fractures: patterns of ocular motility and effect of surgical repair.

The decision to repair an orbital blow-out fracture depends on several factors, but evidence for the optimum timing of surgery is not clear. We retrospectively studied all patients with orbital injuries who were referred to the eye department at a Scottish teaching hospital over a 10-year period from 1997 to 2006. We aimed to document the incidence and pattern of disturbances of ocular motility after blow-out fractures, and identify the rates of early and late resolution of these deficits, both spontaneously and after surgical repair. We found that most patients with blow-out fractures had a motility defect for an acute phase; approximately one third of which resolved spontaneously within 2 weeks. Recovery of motility after orbital surgery occurred in less than half the patients, and was not immediate. Continuing recovery also occurred in those who did not undergo surgery. Entrapment of muscle or tissue is not the only cause of motility disturbance after blow-out fractures, and orbital surgery is only one aspect of management in those patients with persistent motility defects.

Comparison of conchal cartilage graft with nasal septal cartilage graft for reconstruction of orbital floor blowout fractures.

Our aim was to compare autogenous nasal septal cartilage and conchal cartilage as grafts for reconstruction of orbital blowout fractures. Twenty-two patients with blowout fractures were randomly assigned to two groups for treatment with a graft of nasal septal cartilage or conchal cartilage. Patients were evaluated for the presence of enophthalmos, diplopia, dysfunction of the infraorbital nerve, and restriction of the ocular muscles. Patients with enophthalmos of more than 2 mm were included in the study, and were followed up postoperatively at 10 days, 1 month, and 3-6 months. The patients treated with a nasal septal cartilage graft had significantly better correction of enophthalmos than those treated with conchal cartilage (p=0.02) after 10 days (p=0.02), 1 month (p=0.004), and 3-6 months (p=0.001). There was significantly less residual enophthalmos in the nasal septal graft group after 1 month (0.91 compared with 1.72 mm, p=0.02), and after 3-6 months (1.0 compared with 2.54 mm, p=0.008). Correction of enophthalmos was considerably better in patients who were operated on within 4 weeks of injury. We think that nasal septal cartilage is a better graft than conchal cartilage for reconstruction of blowout fractures. The time to intervention (the earlier the better) is a critical point in the correction of enophthalmos.

Atrofia cortical posterior / Posterior cortical atrophy. Report of five cases

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51 and 55years and three females aged 50, 54 and 56 years, with posterior cortical atrophy. Ophthalmologic study was normal in all. Presenting signs and symptoms were visual ataxia, simultagnosia, agraphia, acalculia, spatial disorientation and unilateral neglect (Balint's and Gerstmann's syndromes). Apperceptive visual agnosia, aphasia, apraxia and alexia were also observed. One female had cortical blindness. Structural images were inconclusive, but PET scan and SPECT disclosed functional impairments in occipitotemporal or occipitoparietal areas.

[Posterior cortical atrophy. Report of five cases]. / Atrofia cortical posterior.

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51 and 55years and three females aged 50, 54 and 56 years, with posterior cortical atrophy. Ophthalmologic study was normal in all. Presenting signs and symptoms were visual ataxia, simultagnosia, agraphia, acalculia, spatial disorientation and unilateral neglect (Balint's and Gerstmann's syndromes). Apperceptive visual agnosia, aphasia, apraxia and alexia were also observed. One female had cortical blindness. Structural images were inconclusive, but PET scan and SPECT disclosed functional impairments in occipitotemporal or occipitoparietal areas.

A case of disturbed vertical gaze.

A 10-month-old boy with vertical ocular motor apraxia (OMA) is presented. An optokinetic projector confirmed absence of downward saccades. No case of idiopathic vertical OMA has previously been described. A review of the MRI, initially reported as normal, showed pathology in areas known to be involved with vertical eye movements: the cerebellum and thalamus.