NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review / 中南大学学报(医学版)

More than 100 genes located on the X chromosome have been found to be associated with X-linked intellectual disability (XLID) to date, and NEXMIF is a pathogenic gene for XLID. In addition to intellectual disability, patients with NEXMIF gene mutation can also have other neurological symptoms, such as epilepsy, abnormal behavior, and hypotonia, as well as abnormalities of other systems. Two children with intellectual disability and epilepsy caused by NEXMIF gene mutation were treated in the Department of Pediatrics, Xiangya Hospital, Central South University from March 8, 2017 to June 20, 2020. Patient 1, a 7 years and 8 months old girl, visited our department because of the delayed psychomotor development. Physical examination revealed strabismus (right eye), hyperactivity, and loss of concentration. Intelligence test showed a developmental quotient of 43.6. Electroencephalogram showed abnormal discharge, and cranial imaging appeared normal. Whole exome sequencing revealed a de novo heterozygous mutation, c.2189delC (p.S730Lfs*17) in the NEXMIF gene (NM_001008537). During the follow-up period, the patient developed epileptic seizures, mainly manifested as generalized and absent seizures. She took the medicine of levetiracetam and lamotrigine, and the seizures were under control. Patient 2, a 6-months old boy, visited our department due to developmental regression and seizures. He showed poor reactions to light and sound, and was not able to raise head without aid. Hypotonia was also noticed. The electroencephalogram showed intermittent hyperarrhythmia, and spasms were monitored. He was given topiramate and adrenocorticotrophic hormone (ACTH). Whole exome sequencing detected a de novo c.592C>T (Q198X) mutation in NEXMIF gene. During the follow-up period, the seizures were reduced with vigabatrin. He had no obvious progress in the psychomotor development, and presented strabismus. There were 91 cases reported abroad, 1 case reported in China, and 2 patients were included in this study. A total of 85 variants in NEXMIF gene were found, involving 83 variants reported in PubMed and HGMD, and the 2 new variants presented in our patients. The patients with variants in NEXMIF gene all had mild to severe intellectual disability. Behavioral abnormalities, epilepsy, hypotonia, and other neurological symptoms are frequently presented. The phenotype of male partially overlaps with that of female. Male patients often have more severe intellectual disability, impaired language, and autistic features, while female patients often have refractory epilepsy. Most of the variants reported so far were loss-of-function resulted in the reduced protein expression of NEXMIF. The degree of NEXMIF loss appears to correlate with the severity of the phenotype.

Surgical results of strabismus correction in patients with myelomeningocele / Resultados cirúrgicos da correção do estrabismo em pacientes com mielomeningocele

Purpose: Myelomeningocele is one of the most common birth defects. It is associated with severe neurological deficiencies, and ocular changes, such as strabismus, are very common. The purpose of this study was to describe indications for strabismus surgery in patients with myelomeningocele and to evaluate the results achieved with surgical correction. Methods: We retrospectively reviewed records of all patients with myelomeningocele who underwent surgery for strabismus correction in a 5-year period in an institution for disabled children. Results: The main indications for strabismus surgery were esotropia and A-pattern anisotropia. Excellent surgical results were achieved in 60.9% of patients, satisfactory in 12.2%, and unsatisfactory in 26.9%. Conclusion: Patients with myelomeningocele and strabismus had a high incidence of esotropia and A-pattern anisotropia. Strabismus surgery in these patients had an elevated percentage of excellent and satisfactory results, not only for the ocular deviation, but also for improvement of head posture. .

Objetivo: A mielomeningocele é um dos mais frequentes defeitos do nascimento e está associada a disfunções neurológicas severas. Alterações oculares como estrabismo são muito comuns nesses pacientes. O objetivo deste estudo foi descrever as principais indicações de cirurgia de estrabismo em pacientes com mielomeningocele e avaliar os resultados atingidos com a correção cirúrgica. Métodos: Foi realizado estudo restrospectivo com revisão de prontuários de todos os pacientes com mielomeningocele submetidos à cirurgia para correção de estrabismo em um período de 5 anos em uma instituição de assistência a crianças deficientes. Resultados: As principais indicações para cirurgia de estrabismo foram esotropia e anisotropia com padrão em A. Resultados cirúrgicos excelentes foram alcançados em 60,9% dos pacientes, satisfatórios em 12,2% e insatisfatórios em 26,9%. Conclusão: Pacientes com mielomeningocele e estrabismo têm uma alta incidência de esotropia e anisotropia com padrão em A. A cirurgia de estrabismo nesta população teve uma elevada porcentagem de resultados excelentes e satisfatórios, não somente em relação ao desvio ocular, mas também na melhora na posição viciosa de cabeça .

A major problem in strabismus and its possible solution / Um grande problema no estrabismo e suas possíveis soluções

Purpose: One of the challenges in strabismus is to guarantee stability of the surgical corrections. Re-surgeries are often required even after careful diagnosis, planning, and execution. Several factors contribute to this undesired outcome and the existing management strategies are ineffective. The present alternative is to compensate for their consequences. Ocular rotations are evoked by muscular contractions and relaxations (active forces). During eye movement, periocular tissues are stretched, storing part of the kinetic energy, which may be posteriorly recovered (passive forces), whereas the remaining part of the energy is lost via friction and inelastic deformations (dissipative forces). A method for measuring the forces that cause post-surgery eye drift has not been reported. However, this may be indirectly determined as a function of the respective mechanical variables. The estimated ratio between the kinetic energies of a post-surgery eye drift and a normal pursuit eye movement is ~10-15. Theoretically, it can be expected that the addition of continuously acting forces of such magnitudes to the oculomotor system might prevent the undesired post-surgery eye movement. Methods: Several methods for increasing the restraining, dissipative forces to ocular rotations may be conceived. One method is to increase the friction to ocular movements, as for instance, by periocular injection of viscous substances. Another possibility is to use the forces of a magnetic field, which may stabilize the eye in a desired position without avoiding the rotations caused by greater muscular forces acting on it. It has been demonstrated that these forces neutralize the nystagmic movements, whose intensities of mechanical variables are much higher than those of a post-surgery eye drift. Some models of application of this technique are then discussed. Small magnets fixed to the orbit and metallic ferromagnetic elements fixed to the sclera to cover a suitable ...

Objetivo: Um grande problema nos estrabismos é garantir um resultado bom e estável de suas correções cirúrgicas. A necessidade de reoperações é relativamente alta, apesar de cuidadosos procedimentos diagnósticos, planejamento cirúrgico e execução tenham sido tomados. O resultado indesejado é devido a muitos fatores que ainda não são apropriadamente controlados. A alternativa atual é, então, compensar as consequências correspondentes. Rotações oculares são evocadas por contrações e relaxamentos musculares (forças ativas). Nesses movimentos oculares, tecidos perioculares são distendidos, mantendo parte da energia cinética, que pode ser posteriormente recuperada (forças passivas), enquanto outra parte é definitivamente perdida em fricção e deformações inelásticas (forças dissipativas). Não é conhecida a medida das forças que causam um desvio ocular pós-operatório, mas ela pode ser indiretamente determinada como função das respectivas variáveis mecânicas. A relação entre as energias cinéticas de um desvio ocular pós-operatório e de um movimento ocular persecutório normal pode ser então estimada como de cerca 10-15. Teoricamente, pode-se esperar que a adição de forças dessas magnitudes ao sistema oculomotor, continuadamente atuantes, possam prevenir os movimentos pós-operatórios indesejados. Métodos: Podem ser concebidas várias possibilidades de aumento das forças dissipativas, restritivas de rotações oculares. Uma é a de aumentar a fricção aos movimentos oculares como, por exemplo, por injeções perioculares de substâncias viscoelásticas. Outra possibilidade é oferecida por forças de campos magnéticos ...

Ocular aberrations in amblyopic children

To study the pattern of ocular aberrations in amblyopic children, and evaluate a possible relation to etiology and treatment outcomes of amblyopia. The WaveScan Wavefront System [AMO, Santa Ana, CA, USA] aberrometer was used to assess 75 eyes [60 children] after instillation of 1% cyclopentolate eyedrops. There were 29 males and 31 females with a mean age of 9.23 +/- 2.55 years [range, 5-14 years]. The study sample was subdivided into four groups; 16 emmetropic non-amblyopic eyes [control group]; 24 pre-treatment newly diagnosed amblyopic eyes; 16 eyes of treated amblyopes and; 19 eyes with refractory amblyopia. Amblyopes had statistically significant greater root mean square [RMS] values for whole eye aberrations, 2[nd] order aberrations, defocus [Z[0][2]] and astigmatism [Z[2][2]] compared to emmetropes [P < 0.0001]. The refractory amblyopic group showed statistically significant differences in whole eye RMS, 2[nd] order- aberrations, defocus [Z[0][2]] and astigmatism [Z[2][2]] when compared to treated amblyopic groups [P < 0.0001]. Apart from a statistically significant difference in 5[th] order RMS of pre-treated amblyopes versus the control group, no other significant differences were found in higher order aberrations [HOAs: coma, spherical, higher-order astigmatism, trefoil, or 3[rd], 4[th], 5[th] or 6[th] order terms] between emmetropes and any of the amblyopic groups. Lower order aberrations remain the major factor that affect retinal image quality and hence amblyopia development especially in ametropic eyes. This can be corrected optically. Studying HOA profile in amblyopic eyes failed to explain why refractory amblyopia does not respond to orthoptic treatments. This outcome indicates that theories of central problems in image processing and binocular interaction are likely the main cause of refractory amblyopia.

Refractive Errors and Strabismus in Down's Syndrome in Korea

PURPOSE: The aims of this study were to examine the distribution of refractive errors and clinical characteristics of strabismus in Korean patients with Down's syndrome. METHODS: A total of 41 Korean patients with Down's syndrome were screened for strabismus and refractive errors in 2009. RESULTS: A total of 41 patients with an average age of 11.9 years (range, 2 to 36 years) were screened. Eighteen patients (43.9%) had strabismus. Ten (23.4%) of 18 patients exhibited esotropia and the others had intermittent exotropia. The most frequently detected type of esotropia was acquired non-accommodative esotropia, and that of exotropia was the basic type. Fifteen patients (36.6%) had hypermetropia and 20 (48.8%) had myopia. The patients with esotropia had refractive errors of +4.89 diopters (D, +/-3.73) and the patients with exotropia had refractive errors of -0.31 D (+/-1.78). Six of ten patients with esotropia had an accommodation weakness. Twenty one patients (63.4%) had astigmatism. Eleven (28.6%) of 21 patients had anisometropia and six (14.6%) of those had clinically significant anisometropia. CONCLUSIONS: In Korean patients with Down's syndrome, esotropia was more common than exotropia and hypermetropia more common than myopia. Especially, Down's syndrome patients with esotropia generally exhibit clinically significant hyperopic errors (>+3.00 D) and evidence of under-accommodation. Thus, hypermetropia and accommodation weakness could be possible factors in esotropia when it occurs in Down's syndrome patients. Based on the results of this study, eye examinations of Down's syndrome patients should routinely include a measure of accommodation at near distances, and bifocals should be considered for those with evidence of under-accommodation.

Unilateral Recession-Resection Surgery with Inferior Displacement Combined with Augmented Anterior Transposition of Inferior Oblique Muscle

We report the effects of unilateral recession-resection surgery of the horizontal recti muscles with inferior displacement and augmented anterior transposition of the inferior oblique muscle with a posterior intermuscular suture in a patient with large exotropia and considerable hypertropia.

Botulinum toxin in the management of acquired motor fusion deficiency.

Acquired disruption of motor fusion is a rare condition characterized by intractable diplopia. Management of these patients is extremely difficult. Prisms in any combination or even surgery may not help relieve their symptoms. We describe a longstanding case of acquired motor fusion disruption which was managed successfully with botulinum toxin injection.

Estrabismo horizontal: incidencia y su relación con la ambliopía como secuela sensorial / Horizontal strabismus: incidence and the relation with amblyopia as sensorial sequelae of it

Se realizó un estudio observacional descriptivo retrospectivo de los pacientes que fueron atendidos en la consulta de Oftalmología Pediátrica del Hospital Provincial General Docente Dr Antonio Luaces Iraola, con el diagnóstico de estrabismo horizontal durante el periodo de enero a julio del 2007, con la finalidad de determinar su incidencia y la relación con la ambliopía como secuela sensorial del mismo. La información se obtuvo a través de las hojas de cargo de la consulta y las historias clínicas de los pacientes con dicho diagnóstico, la información obtenida fue resumida en tablas y gráficos. Como resultados pudimos observar que el sexo femenino fue el más afectado, los estrabismos horizontales aparecieron con mayor frecuencia en los menores de ocho años, predominaron las esotropias sobre las exotropias, la mayor parte de pacientes ambliopes eran portadores de esotropias, el componente vertical fue muy frecuente en los pacientes.

A retrospective descriptive observational study of the patients who were seen in the Paediatric Ophthalmology office of the Provincial General Docent Hospital Antonio Luaces Iraola was carried out, with the diagnosis of horizontal strabismus during the period from January to July 2007, in order to determine its incidence and the relation with amblyopia as sensorial sequelae of it. The research data was obtained from the registries of the fhysician' office and clinical histories of the patients with this diagnosis, the obtained data was summarized in graphical tables and as a result it was observed that feminine sex was the most affected, the horizontal strabismus occurred most frequently in patients younger than eight year-old, esotropies were predominated over exotropies, most of amblyopic patients were carriers of esotropies, the vertical component was very frequent in patient.

Evaluation of central, steady, maintained fixation grading for predicting inter-eye visual acuity difference to diagnose and treat amblyopia in strabismic patients.

Background: Diagnosis of amblyopia in preverbal strabismic patients is frequently made by binocular fixation preference (BFP) testing. The reports on reliability of BFP are equivocal. This study evaluated the reliability of BFP testing in patients with horizontal strabismus. Materials and Methods: This prospective observational study included patients with manifest, horizontal, comitant deviation >10 prism diopter (PD). Inter-eye acuity difference (IEAD) was calculated by converting Snellen visual acuity to logMAR and was compared with BFP testing. The fixation behavior of the non-preferred eye was evaluated by a single investigator as central or uncentral, steady or unsteady and maintained or unmaintained. Amblyopia was defined as the IEAD of >0.2 logMAR. Results: Of total 61 patients 36 were females and 36 had convergent squint, mean age 9.8 years. The correlation of BFP testing with IEAD was good for esotropia and exotropia. The sensitivity, specificity, positive and negative predictive value of central, steady, maintained (CSM) grading was 93%, 78%, 79%, and 93% respectively. Sensitivity and negative predictive values were higher in children aged four to nine years and anisometropia >1 diopter. The correlation between IEAD and lower grades of BFP testing was poor. Conclusions: CSM grading for BFP testing is useful for the detection of strabismic amblyopia but not useful to differentiate the depth of the amblyopia.

Análisis de las funciones sensoriomotoras y depresión en niños con estrabismo: primera fase / Study of depression and sensorial functions in children with strabismus: first phase

BACKGROUND: We undertook this study to demonstrate the visuomotor alterations, intelligence level and depression changes in children with recurrent strabismus. METHODS: Children with recurrent strabismus were studied with the Human Figure Test, Lauretta Bender Visuomotor Test, Intelligence Level of Weschler, WISC-R, and WPPSI. Complete exploration of strabismus was made. RESULTS: We included nine children aged 6.8 years (SD 2). Overfunction of oblique muscles and dissociated strabismus were related to recurrence of strabismus. Stereovision was present in five cases previous to recurrence (rate: 170 sec of arc), and three lost this with recurrence of strabismus. Psychological test determined difficulties in socialization and signs of aggression, including data on depression and "dullness." Bender Test showed relevant defects in fine hand movement, level: 5.4 (SD 1.7). Santucci evaluation for Bender was 3.83 (SD 2.1). Correlation coefficient between values was significant for Santucci evaluation and stereovision (0.89). Global Intelligence Coefficient was 88.1 (SD 12), which was subnormal and poorer in executive function (84). CONCLUSIONS: We have demonstrated relevant alterations in visuomotor abilities in patients with strabismus, especially related to stereovision deficiency, effect on learning, intelligence and depression.

Clinical Outcomes of Surgical Techniques in Congenital Cataracts

PURPOSE: To investigate the general clinical features of congenital cataracts and to determine their relationship to visual prognosis and surgical complications according to age at operation and surgical procedure adopted. METHOD: We retrospectively evaluated 92 eyes in 61 patients with congenital cataracts who underwent cataract surgery between January 1996 and December 2006. The demographic data, surgical technique, post-operative complications, and final visual prognosis were evaluated. RESULTS: The average age at surgery was 3.17 years (range 1 month to 11 years), and the mean follow-up was 40.02 months (range 6 to 46 months). Of the 56 eyes that could be checked for visual acuity after cataract extraction, 29 (51.7%) had a BCVA of > or =0.5 at last visit. Unilateral congenital cataracts (p=0.025) and congenital cataracts with strabismus (p=0.019) showed significantly poorer visual outcomes. Patients with nystagmus also experienced a poor visual outcome; 6 patients (67%) had a BCVA of <0.1. Posterior cataracts had the worst visual prognosis (p=0.004). No statistically significant differences in posterior capsular opacity (p=0.901) or synechia formation (p=0.449) were observed between surgical techniques, but children younger than one year showed a higher tendency for PCO and synechia formation. CONCLUSIONS: Anterior vitrectomy did not reduce postoperative complications. Higher rates of complications (PCO, posterior synechia) developed in children younger than one year of age.

Ocular defects in cerebral palsy.

There is a high prevalence of ocular defects in children with developmental disabilities. This study evaluated visual disability in a group of 200 cerebral palsy (CP) patients and found that 68% of the children had significant visual morbidity. These findings emphasize the need for an early ocular examination in patients with CP.

Efficiency of occlusion therapy for management of amblyopia in older children.

PURPOSE: To analyse results of full time occlusion therapy for amblyopia in children older than 6 years. MATERIALS AND METHODS: This was a retrospective consecutive case series analysis of children treated for amblyopia at a tertiary care center. All children received full time occlusion (FTO) for the dominant eye. RESULTS: Eighty-eight children older than 6 years at the time of initiation of therapy were included. Age at initiation of therapy ranged from 6 to 20 years (9.45 +/- 3.11 years). Forty-two children (47.7%) had strabismic amblyopia, 37 (42.0%) had anisometropic amblyopia and 9 (10.2%) had a combination of strabismic and anisometropic amblyopia. Eighty out of 88 eyes (90.0%) had improvement in visual acuity following FTO. Visual acuity (VA) improved from 0.82 +/- 0.34 at presentation to 0.42 +/- 0.34 (P < 0.001) after FTO. In children with strabismic amblyopia, VA improved from 0.81 +/- 0.42 to 0.42 +/- 0.39 (P <0.001). In children with anisometropic amblyopia, visual acuity of the amblyopic eye improved fron 0.82 +/- 0.24 to 0.36 +/- 0.29 (P< 0.001) following FTO. Out of 13 children older than 12 years, only 6 children (46.1%) had improvement in VA. Mean follow-up after complete stoppage of occlusion was 8.37 +/- 1.78 months. CONCLUSION: Occlusion therapy yields favorable results in strabismic and/or anisometropic amblyopia, even when initiated for the first time after 6 years of age. After 12 years of age, some children may still respond to occlusion of the dominant eye.

Lente intra-ocular opaca em diplopia intratável: relato de caso / Opaque intraocular lens in intractable diplopia: case report

Diplopia intratável tem sido descrita em várias situações. Métodos convencionais como prismas e correção cirúrgica do estrabismo falham em neutralizá-la. O objetivo do trabalho é documentar o caso de uma paciente com estrabismo de longa data, cuja diplopia deteriorou-se ao longo dos anos, e não foi possível resolução com cirurgia, prisma, e oclusão com óculos e lente de contato com pupila opaca. A paciente foi então submetida à facoemulsificação com implante de lente intra-ocular opaca que atingiu o objetivo desejado.

Intractable diplopia has been described in many situations but poor results are the rule with standard treatment modalities. The authors report a case of a woman with long-standing strabismus and diplopia who failed to improve following surgery, prism, and occlusive spectacles or contact lenses. Then, she was submitted to phacoemulsification and opaque intraocular lens implantation, which successfully neutralized diplopia.

Ambliopia por estrabismo: estudo retrospectivo de pacientes em hospital universitário / Strabismic amblyopia: a retrospective study on patients from a university hospital

OBJETIVO: Avaliar a influência da adesão ao tratamento, da gravidade da ambliopia e da idade de início do tratamento em pacientes com ambliopia por estrabismo submetidos à terapia oclusiva. MÉTODOS: Analisaram-se 569 prontuários de pacientes com ambliopia por estrabismo atendidos no Hospital das Clínicas da Faculdade de Medicina da USP no período de 1983 a 2000. Os critérios de exclusão foram: perda de seguimento, idade maior que 12 anos, presença de nistagmo e outras doenças oculares. Todos foram submetidos a exame oftalmológico completo com avaliação da motilidade ocular, divididos por faixas etárias e classificados quanto ao tipo de estrabismo, gravidade da ambliopia e adesão ao tratamento. Os dados foram analisados estatisticamente pelo método de Fisher. RESULTADOS: Foram incluídos 198 pacientes (34,8 por cento). Não houve diferença de adesão nos diversos grupos etários. A taxa de sucesso foi maior nos pacientes com boa adesão independente da gravidade da ambliopia. Porém a adesão ao tratamento foi menor no grupo com ambliopia grave, que foi o mais freqüente e obteve menor taxa de sucesso em nossa amostra. Não houve relação entre idade e sucesso terapêutico. CONCLUSÕES: O estudo demonstrou que a adesão ao tratamento oclusivo desempenha papel fundamental na eficácia terapêutica. Com isto, idade de início do tratamento isoladamente não teve influência no sucesso terapêutico, uma vez que foi possível obter boa adesão a despeito da idade. Além disto, os resultados foram piores nos casos de ambliopia grave, nos quais a adesão foi menor.

Profile of amblyopia in a hospital referral practice.

OBJECTIVE: Evaluation of the clinical profile and distribution of different sub-types of amblyopia in a referral eye hospital in India. METHODS: This was a prospective hospital-based observational study, evaluating the clinical profile of patients with amblyopia presenting to a referral strabismology practice. The examination included assessment of the visual acuity, the refractive status, the fixation pattern, the grade of binocularity, and evaluation of the associated strabismus, if any before treatment was started. RESULTS: The average age of the patients at presentation was 7.97?6.18 years with 81 out of 683 patients (11.8%) presenting above the age of 20 years. The best-corrected visual acuity (BCVA) was less than 6/60 in the amblyopic eye in 121 out of 733 eyes (16.5%). Strabismic amblyopia was the most common sub-type of amblyopia seen (274/733 eyes, 37.38%). Though patients with anisometropic amblyopia presented at a later age (average of 10.03+/-6.92 years), they had better visual acuity, binocular functions, and centricity of fixation at all ages, relative to other sub-types of amblyopia. The BCVA did not show any co-relation with the age of presentation [co-relation co-efficient (CF) of 0.074], refractive status of the amblyopic eye (CF of 0.078), the type of amblyopia (CF of 0.196), or the type of strabismus present (CF of 0.079). However, a very significant co-relation was seen between the BCVA and the fixation pattern of the amblyopic eye (CF of 0.817). CONCLUSIONS: Lack of knowledge and awareness about amblyopia and its appropriate timely management has been the main cause for the late presentations and significant visual impairment associated with the condition.

Parálisis unilateral de la elevación / Unilateral elevation palsy

Objetivos: analizar la incidencia y características clínicas de pacientes con parálisis unilateral de la elevación (PUE) en nuestra consulta privada. Pacientes y métodos: evaluamos las historias clínicas de 822 pacientes estrábicos estudiados consecutivamente. Estudiamos la presencia de estrabismo horizontal asociado, de inversión anómala, del fenómeno de Bell, tortícolis y ptosis o pseudoptosis. Estudiamos clínicamente los movimientos sacádicos en el plano vertical. Cuatro pacientes con doble parálisis de los elevadores (DPE) fueron operados mediante la técnica de Knapp modificada. Resultados: 7 pacientes presentaron una PUE. Seis casos correspondían a una DPE presentando hipotropia en el ojo afectado, pseudoptosis y ptosis y fénomeno de Bell negativo ipsilateral. El caso restante correspondía a una parálisis unilateral de la elevación de origen supranuclear presentando ortotropia en PPM y fenómeno de Bell positivo en el ojo afectado. Entre los casos de DPE dos estaban asociados al fenómeno de Marcus Gunn (FMG). Clínicamente no pudimos establecer diferencias en la velocidad sucádica entre ambos ejes en los 7 pacientes estudiados. Los cuatro pacientes con DPE operados mostraron ducciones pasivas normales y obtuvieron un buen alineamiento ocular en PPM. Conclusión: Las PUE son cuadros clínicos infrecuentes. La asociación de PUE y FMG confirmaría el diagnóstico de DPE.

Purpose: to analyze the incidence and clinical characteristics of patients with unilateral elevation palsy (UEP) in our private practice. Patients and methods: 822 clinical recordd of strabismus patients seen consecutively were evaluated. We studied the existence of horizontal strabismus, anomalous innervations, Bell's phenomenon, torticollis and ptosis or pseudoptosis. We studied vertical saccadic movements. Four patients with double elevator palsy (DEP) were operated with a Knapp modified procedure. Results: 7 patients had UEP. Six had double elevator paresis (DEP) presenting hypotropia of the involved eye, pseudoptosis, ptosis and ipsilateral negative Bell's phenomenon. The other case was a supranuclear elevation palsy with ortotropia in primary position and, positive Bell's phenomenon in the affected eye. Two DEP patients were associated with Marcus Gunn phenomenon (MGF). Clinically we couldn't find differences in saccadic velocity between both eyes of 7 patients. The four patients with DEP that were operated had normal passive ductions and attained good results. Conclusions: clinical causes of UEP are infrequent. The association of UEP and MGF would support DEP diagnosis.

El tortícolis en la cirugía del nistagmus congénito y la videonistagmografía / The torticollis in congenital nystagmus surgery and videonystagmography

Se analizan 66 pacientes con nistagmus congénito manifiesto, 29 de ellos con estrabismo asociado. Se analizan variables como el tipo de tortícolis, registro videonistagmográfico horizontal y vertical, la disminución en la convergencia, tipo de cirugía. En la muestra de pacientes presenta patología sensorial asociada el 40,5 por ciento. Resultados: De la muestra de 66 pacientes con nistagmus congénito, el tortícolis que aparece con más frecuencia en los pacientes estudiados es el tortícolis horizontal (89 por ciento). La técnica quirúrgica más frecuentemente utilizada fue la retroinserción amplia retroecuatorial (12-15 mm) de los músculos recto medio y recto lateral contralateral (44 por ciento). La velocidad del nistagmus horizontal registrada en la videonistagmografía (VNG) es mayor en los que tienen tortícolis horizontal que en los que no lo presentan. Si se asocia un problema mayor de nistagmus en resorte, estrabismo, parálisis oculomotora, esto puede hacer aumentar o modificar el tortícolis.- El 100 por ciento de los pacientes con nistagmus y estrabismo asociado tiene tortícolis. Conclusiones: La causa principal del tortícolis en los pacientes con nistagmus es el nistagmus por delante del estrabismo. El tortícolis de presentación más frecuente es el horizontal en el 89 por ciento de los casos. El tortícolis torsional se presenta en el 36 por ciento de los pacientes de nuestra muestra y el vertical en el 34 por ciento. El estrabismo tiene un papel clave en la aparición de tortícolis vertical y torsional en el nistagmus. Sin embargo el estrabismo está menos presente en casos de tortícolis horizontales puros. Es necesario antes de tomar una determinada actitud terapéutica en un nistagmus contar con el mayor número de datos posibles para desenmascarar los componentes del nistagmus y la presencia o no de estrabismo, y la VNG aporta gran información a este respecto, como la presencia o no de bloqueo, la disminución de la intensidad en ciertas posiciones, etc.

We analyze 66 patients with congenital manifest nystagmus, 29 of them with associated strabismus. Parameters studied were head position, type of surgery, videonistagmography registration, ocular abnormalities, frequencies. Horizontal torticollis was the most frequent head position found (89 percent), followed by torsional (36 percent) and vertical (34 percent) torticollis. No sensory nystagmus blocked in convergence (18 percent). Although sensory nistagmus never block, they to reduce their intensity by more than half in 28.6 percent of cases. The type of surgery we used the most was over one horizontal muscle and contralateral muscle in the other eye. We concluded that nystagmus is the main cause of abnormal horizontal head position. However strabismus also participate. Torsional and vertical head position is mostly caused by strabismus. Although simple clinical study is the first step to any understanding of nystagmus, videonistagmography give us some useful information. We can study with much more precision some nystagmus movements (0,2 percent) that are undetectable by visual study. It is also useful in case of blocking convergence.