Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: un desafío diagnóstico / Nystagmus secondary to albinism with ocular involvement in a female: a diagnostic challenge

INTRODUCCIÓN: El nistagmo infantil es infrecuente y representa un desafío diagnóstico para el pediatra. El albinismo es una de sus principales causas, siendo difícil de sospechar en ausencia de compromiso cutáneo evidente, especialmente en pacientes femeninas, debido a que tipo de herencia del albinismo ocular. OBJETIVO: Describir un caso de nistagmo secundario a albinismo con compromiso ocular aislado en paciente femenina, para discutir el enfoque diagnóstico pediátrico. CASO CLÍNICO: Paciente fe menino de 3 semanas de vida, sin antecedentes mórbidos, derivada a neuropediatra y oftalmólogo por movimientos oculares paroxísticos desde las 2 semanas, con estudio con electroencefalograma e imágenes cerebrales normales. A los 3 meses se confirmó translucencia iridiana, nistagmo y astigmatismo hipermetrópico. La valuación dermatológica descartó compromiso cutáneo. Evolucionó con inclinación cefálica hacia abajo y retraso del desarrollo de la coordinación, fue manejada con lentes de corrección y kinesioterapia. A los 3 años, destacaba mejoría de la agudeza visual, disminución del nistagmo y neurodesarrollo normal. La evaluación oftalmológica de ambos padres fue normal y no había antecedentes de nistagmo o albinismo en la familia. Por decisión de los padres no se realizó estudio genético. CONCLUSIÓN: El diagnóstico de nistagmo secundario a compromiso ocular del albinismo, aún en ausencia de afección cutánea, es clínico; el estudio genético permite confirmar la etiología, sin ser un examen imprescindible, a menos que se considere la planificación familiar. La pesquisa oportuna e intervención multidisciplinaria determinan un mejor pronóstico.

INTRODUCTION: Infantile nystagmus is an infrequent condition that represents a diagnostic challenge for the pediatri cian. Albinism is one of its main causes, being difficult to suspect in the absence of evident cutaneous involvement, especially in female patients, due to the inheritance type of ocular albinism. OBJECTIVE: To describe a case of nystagmus secondary to albinism with isolated ocular involvement in a female patient, in order to provide tools for pediatric approach and diagnosis. CLINICAL CASE: Three- weeks-old female patient, without morbid history, referred to a pediatric neurosurgeon and ophthal mologist due to paroxysmal eye movements since 2 weeks of age. The electroencephalogram and brain images were normal. In follow-up monitoring at 3 months, iris translucency, nystagmus, and hypermetropic astigmatism were confirmed. Dermatologic evaluation ruled out cutaneous invol vement. The patient developed cephalic downward inclination and coordination development de lay was confirmed, the patient was handled with corrective lenses and kinesiotherapy. In follow-up monitoring at 3 years, there was an improvement in visual acuity, decreased nystagmus and normal neurodevelopment. The ophthalmological evaluation of both parents was normal and there was no history of nystagmus or albinism in the family. Upon her parents' decision, no genetic study was ca rried out. CONCLUSION: The diagnosis of nystagmus secondary to ocular albinism, even in the absence of cutaneous involvement, is clinical. The genetic study allows confirming the etiology, without being an essential examination, unless family planning is considered. Timely research and multidisciplinary intervention determine a better prognosis.

Left ventricular noncompaction in a Para athlete / Miocárdio não compactado em paratleta

ABSTRACT The left ventricular noncompaction is a congenital cardiomyopathy characterized by the presence of abnormal trabeculations in the left ventricle. The present study describes the case of a 14-year-old female Para athlete, who plays goalball. She was asymptomatic, with history of congenital nystagmus and mild visual impairment, who presented nonspecific electrocardiographic abnormalities during pre-competition screening. Cardiac magnetic resonance imaging showed left ventricular non-compaction (non-compacted to compacted layer ratio equal to 2.5) and mild biventricular systolic dysfunction. Initially, the patient was excluded from sports participation and clinical follow-up was performed every three months. Patient remained asymptomatic during the one-year follow-up, with no history of unexplained syncope, marked impairment of systolic function or significant ventricular arrhythmias at the exercise stress test. Finally, she was released for competitive goalball participation and clinical follow-up was continued every 6 months. There is no consensus regarding the eligibility criteria for sports participation in cases of left ventricular non-compaction. Thus, it is prudent to individualize the decision regarding practice of sports, as well as to consider participation in competitive sports for asymptomatic individuals and with no disease repercussions.

RESUMO O miocárdio não compactado é uma cardiomiopatia congênita caracterizada pela presença de trabeculações anormais no ventrículo esquerdo. O presente estudo descreve o caso de uma paratleta de goalball, 14 anos, sexo feminino, assintomática, com história pessoal de nistagmo congênito e leve deficiência visual, que apresentou alterações eletrocardiográficas inespecíficas durante avaliação pré-participação. A ressonância magnética cardíaca evidenciou presença de não compactação miocárdica (relação entre camada não compactada/camada compactada igual a 2,5) e disfunção sistólica biventricular leve. Inicialmente, a paciente foi afastada da prática de esportes, e o seguimento clínico foi realizado a cada 3 meses. A paciente permaneceu assintomática durante o período de 1 ano de seguimento, sem história de síncope inexplicada, comprometimento significativo da função sistólica ou taquiarritmias ventriculares importantes ao teste de esforço. Por fim, ela foi liberada para prática competitiva de goalball, e o seguimento clínico foi mantido a cada 6 meses. Não há consenso quanto aos critérios de elegibilidade para a prática esportiva nos casos de miocárdio não-compactado. Assim, é prudente individualizar a decisão quanto a prática esportiva, bem como considerar a participação em esportes competitivos para indivíduos assintomáticos e sem repercussões da doença.

Congenital Nystagmus in Turner Syndrome

No abstract available.

Laser Refractive Surgery Using an Active Eye-Tracking System in Congenital Nystagmus

PURPOSE: Nystagmus is not considered a good indication for laser refractive surgery. However, we report 2 cases with congenital nystagmus that underwent a safe procedure due to improvement of laser firing rate and eye tracker. CASE SUMMARY: Two myopic patients with congenital nystagmus underwent transepithelial photorefractive keratectomy with the Schwind Amaris laser platform using an eye tracker. The laser ablations were performed under topical anesthesia without any mechanical eyeball fixation. A 30-year-old man with a history of muscle surgery at 11 years of age had a conjugate, 4 Hz right beating jerk nystagmus. His preoperative refractive error was -8.50 D sph = -0.50 D cyl x 160degrees x 20/30) in the right eye, and -6.00 D sph = -0.75 D cyl x 30degrees x 20/25) in the left eye. A 19-year-old man had a conjugate, 3 Hz pendular nystagmus. His refractive error was -5.25 D sph = -2.50 cyl x 175degrees x 20/30) in the right eye, and -4.25 D sph = -2.50 D cyl x 180degrees x 20/30) in the left eye. Both patients underwent a well-centered laser ablation without any problems. Six months after surgery, uncorrected visual acuity was 20/25 or better, and refractive error was within +/-0.50 D in all 4 eyes. In addition, the 19-year-old man showed decreased nystagmus amplitude. CONCLUSIONS: In some patients with congenital nystagmus, laser refractive surgery may be safely and accurately performed under topical anesthesia using an active tracking system. The best uncorrected visual acuity may improve in certain patients postoperatively.

Hallermann-streiff syndrome a case report from Egypt

Hallermann-Streiff syndrome [HSS] is a rare genetic disorder that is primarily characterized by distinctive malformations of the skull and facial [craniofacial] region; sparse hair [hypotrichosis]; eye abnormalities; dental defects; degenerative skin changes [atrophy], particularly in the scalp and nasal regions; and proportionate short stature. Here we describe a case with HSS

Serum lipids - a modifiable risk factor for senile cataract

To identify the role of serum lipids in patients with different types of senile cataract. It was an observational case control study in a tertiary care centre in the city of Lahore, Pakistan. Fifty patients with senile cataract and fifty control individuals were selected. History taking with ophthalmic and systemic examinations were done. Fasting serum samples were taken for estimation of lipid profile from all the subjects. In the patient group, female to male ratio was 1.63:1. 78% patients had nuclear cataract, 16% had cortical and 6% had posterior sub capsular type of senile cataract. Serum Triglycerides, cholesterol, LDL, HDL and VLDL of patients were compared with controls. The p-value of cholesterol, LDL and HDL was non-significant. Serum triglycerides and VLDL were significantly raised in patients of senile cataract [p. <0.001]. Serum Triglycerides and VLDL are modifiable risk factors in the development of senile cataract in Pakistani patients. Serum Triglycerides is the only lipid, which has shown consistent results related to cataract development in different parts of the world. Other lipids show variable results in different countries

Septo-optic dysplasia complex: clinical and radiological manifestations in Omani children

Septo-optic dysplasia [SOD], also known as de-Morsier's syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia [ONH], pituitary gland hypoplasia, and midline abnormalities of the brain including absence of septum pellucidum and corpus callosum dysgenesis. It is typically diagnosed in infancy and has a variable presentation that includes visual, neurologic, and/or hypothalamic-pituitary endocrine deficits. To demonstrate the ophthalmic, endocrine, and neurologic spectrum of SOD in five Omani children and address the crucial role of high-resolution neuroimaging for its early and accurate diagnosis. A retrospective chart review was performed in 2010 of all children in the pediatric ophthalmology database of Sultan Qaboos University Hospital [SQUH] who were diagnosed to have ONH. All relevantdemographic, ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were recorded in a data collection form. All previous neuroimaging results were reviewed by a neuro-radiologist. Five patients [four males, one female] with the diagnosis of ONH were included in the study. They presented during the period 1998-2008. All patients were born at term, with normal birth weights to healthy mothers with insignificant antenatal history. Age at presentation ranged from three months to one year. Manifestations at presentation included severe visual impairment [5/5], neonatal hypoglycemia [3/5], seizure disorder [2/5], and failure to thrive [4/5]. ONH was bilateral in 3/5 patients and unilateral in [2/5]. Brain and orbit imaging revealed varying anomalies in all patients. These included absent septum pellucidum [3/5], severe corpus callosum agenesis [1/5], ectopic pituitary [5/5], falx cerebri deficiency [1/5], optic nerve hypoplasia [5/5], optic chiasmal hypoplasia [5/5], and olfactory tract hypoplasia [1/5]. Endocrine deficits were detected in 4/5 patients [3 with panhypopituitarism, and 1 with growth hormone deficiency] and necessitated replacement therapy. SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving

Joubert Syndrome.

Joubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.

Frequency of infantile pyloric stenosis and ocular abnormalities in Turner's syndrome in Bahawalpur city

Turner's syndrome is one of the most common of all chromosomal abnormalities. Pyloric stenosis is the most common pediatric surgical disorder of infancy that requires surgery for associated emesis.4 Ocular abnormalities are common in Turner's syndrome, but are under estimated and often neglected. The study that was hospital - based observational, was conducted from September 1[st], 2005 to August 31, 2011 in the Al-Noor Hospital Yazman [Bahawalpur] in collaboration with ophthalmology department, Bahawal Victoria Hospital Bahawalpur. Laboratory investigations including electrolytes, blood gas analysis, and osmolality were done in pathology department, Quaid-e-Azam Medical College Bahawalpur. Frequency of pyloric stenosis in infants from 0 - 6 months 64.95% and infants 6 - 12 months is 35.09%, the ocular abnormalities amblyopia 19%, strabismus 23%, phoria only 43.5%, epicanthus 10%, hypertelorism 3%, ptosis 1%, nystagmus 0.5%. There is a high frequency of ocular abnormalities and pyloric stenosis in infants with karyotype XO. Timely diagnosis may save from devastating effects of ocular complications leading to blindness and life threatening alkalosis due to pyloric stenosis in infants below one year of age

Visual electrophysiology in congenital nystagmus with normal fundus.

OBJECTIVE: To identify the ophthalmic causes of congenital nystagmus with normal eye examination by visual electrophysiologic tests. MATERIAL AND METHOD: Medical records of patients who presented with nystagmus and no other neurological sign before 6 months of age with normal eye examination, between February 2004 and February 2005, were reviewed Complete ophthalmic examination and visual electrophysiologic tests were performed to identify the ophthalmic causes of congenital nystagmus. RESULTS: Thirty-four patients had met the criteria. Leber's congenital amaurosis was diagnosed in 13 patients (38.2%) by non-recordable electroretinography (ERG) and normal visual evoked potential (VEP). Idiopathic infantile nystagmus was diagnosed in 12 patients (35.3%) by normal ERG and VEP. Achromatopsia was diagnosed in 8 patients (23.5%) by flat retinal cone ERG but normal rod ERG and VEP. Rod-cone dystrophy was diagnosed in one patient (3%) by abnormal rod and cone ERG CONCLUSION: Visual electrophysiologic study is helpful to identify the ophthalmic causes of congenital nystagmus. Leber's congenital amaurosis is a common cause in congenital nystagmus.

Lowe syndrome: report of a case and brief literature review

The oculocerebrorenal syndrome of Lowe [OCRL] is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, mental retardation and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years. A 13-year-old boy was referred because of short stature. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe hypotonia, congenital cataract which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for renal tubular acidosis [Fanconi syndrome] since 8 month of age. The possibility of OCRL should be considered in boys with cataracts and glumerolar disease. As the condition can be diagnosed in first months of life, early treatment can prevent patients from various complications

case series study of leber's congenital amaurosis: Clinical description and ERG findings

To evaluate the incidence of Leber's Congenital Amaurosis [LCA] in low vision children referred to electrophysiology ward of Farabi Eye Hospital, and review the clinical features of disease and Electroretiongraphy [ERG] test values to confirm the diagnosis and severity of the disease in Iran. Prospective observational case series. Two-hundred and fifteen cases of low vision infants and young children were referred to electrophysiology ward of Farabi Eye Hospital during 18 months. Clinical LCA diagnosis was made and ERG tests were done and LCA diagnosis was confirmed. The symptoms, signs and the results of eye examination and ERG findings were recorded. The mean age of the patients was 27.43 [range, 1-120 months]. Among low vision patients fourteen percent of patients had LCA. Fifty-four percent of the patients were female. Nystagmus and low vision were the two most common clinical manifestations of these patients. Hyperopia was the main refractive error [54.80%] and mild abnormalities in fundus examinations were found in 67.70% of cases. In nearly 90% of cases consanguinity was found. ERG was flat or unrecordable in more than 90% of cases, but in less than 10% of cases with recordable curves, severe decrease in amplitude of waves was encountered. ERG confirmed LCA diagnosis in 31 out of 37 patients [positive predictive value of 83.7%]. The incidence of LCA in low vision children is similar to other studies. ERG helped in confirmation of presence or absence of overall retinal dysfunction in the majority 31/37 [83.7%] of LCA patients. It can differentiate these cases from other cases with poor vision in infantile age but genetic testing is recommended

The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus.</p><p><b>METHODS</b>Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by investigating the history of the family members and the clinical feature of each individual. The genome scan on X chromosome was performed after PCR amplification for microsatellite markers. LOD scores were calculated with Linkage 5.1. Direct DNA sequence analysis was carried out to find the gene mutation responsible for the disease.</p><p><b>RESULTS</b>A maximum LOD score of 8.55 (theta=0) was obtained with polymorphic marker DXS1047. Haplotype construction of the family defined the disease interval between DXS8059 and DXS8033. Direct DNA sequence analysis revealed a heterozygous mutation of G990T in exon 9 of the FRMD7 gene in all patients, which was not present in unaffected family members.</p><p><b>CONCLUSION</b>Congenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for this family with congenital nystagmus.</p>

A Case of Developmental Delay with Canavan's Disease: A case report

Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy and hypotonia. Seven-month old baby delivered by Caesarean section at gestational age 40 weeks was complaining of an inability to keep head up. In past history, he was treated for congenital nystagmus. Chromosomal study was normal. Brain MRI showed delay of myelination of 5 months old. During neurodevelopment treatment in our hospital about development delay, macrocephaly was observed with head circumference 46 cm (90~97 percentile). He couldn't control his head yet. Brain MRI was done when he was 12-month old. There was no myelination in whole brain compared with that of same age group. The peak elevation of N-acetylaspartic acid (NAA) was showed in magnetic resonance spectroscopy (MRS). NAA was detected as high as 29.7 mmol/molCr, we diagnosed him as Canavan's disease. So we reported this case with a brief review of related literatures.

Resultados de la cirugía del tortícolis horizontal por nistagmus ocular congénito / Surgical results of horizontal ocular torticollis present in congenital nistagmus

Objetivo: Conocer los resultados de nuestra cirugía correctora del tortícolis (T) horizontal por nistagmus ocular congénito sin estrabismo. Material y Métodos: Estudio retrospectivo de 31 casos operados con diferentes procedimientos según las características del bloqueo y magnitud del T. Según esto último, los casos se clasificaron en 5 grupos. Resultados: La corrección del T fue exitosa (T residual del 12° o menos) en 80.7 por ciento del total de casos. En dos grupos obtuvimos curación del 100 por ciento de los casos, en otros 2,77 por ciento y 75 por ciento, respectivamente. En el 5° grupo la cirugía no fue uniforme y no es posible extraer normas de sus resultados. Como complicaciones tuvimos la aparición de un pequeño estrabismo en 3 casos y 4 pacientes debieron ser reintervenidos por tortícolis residual. Conclusiones: Las publicaciones con procedimientos comparables a los nuestros son escasas o con resultados vagos. Este estudio permite sacar guías quirúrgicas cuantitativas recomendables para 4 de los 5 grupos.

Purpose: To evaluate our surgical results in horizontal ocular torticollis present in congenital nystagmus without strabismus. Methods: A retrospective review was made in 31 consecutive patients, undergoing different surgical procedures considering the so called null zone and quantity of torticollis. Cases were classified in five groups. Results: In 80.7 percent of cases a successful result was obtained, defined as a residual torticollis not greater than 12°. Two groups obtained 100 percent correction. Two other groups obtained 77 and 75 percent correction respectively. The surgery indicated in group five was too heterogeneous and therefore non conclusive. After surgery a small strabismus presented in 3 cases. Four other patients were reoperated due to remaining torticollis. Conclusions: Papers with comparable procedures are few and don't show exact or detailed results. Our review allows us to obtain guide lines at least in 4 of the 5 groups.

Novel Mutation in FRMD7 Gene in X-linked Congenital Nystagmus

BACKGROUND AND OBJECTIVES: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. To report a novel mutation in FERM domain containing 7 (FRMD7) gene in a Korean family with CN. MATERIALS AND METHODS:Genomic DNA was prepared from peripheral blood leukocytes and direct sequencing of the entire coding and adjacent intronic regions was performed to detect sequence variation of FRMD7 gene, where mutations were found recently in patients with familial CN. The family showed an X-linked pattern of inheritance without father-to-son transmission. RESULTS: Three family members with CN exhibited two sequence variations which were a novel mutation (c. 875T>C; Leu292Pro) and a polymorphism (c. 1403G>A; Arg468His, dbSNP rs#6637934). The proband was hemizygous for both variations and his mother and maternal grandmother were heterozygous carriers. CONCLUSION: This study provides an additional evidence for mutations in FRMD7 as a common cause of X-linked CN and expands its mutation spectrum.

Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families

BACKGROUND AND PURPOSE: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN. METHODS: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments. RESULTS: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings. CONCLUSIONS: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN.

Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families

BACKGROUND AND PURPOSE: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN. METHODS: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments. RESULTS: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings. CONCLUSIONS: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN.

A Case of Infantile Nystagmus in a Child with Schizencephaly

PURPOSE: Nystagmus is a rare involuntary eye movement which has no known, specific, underlying diseases. Schizencephaly is also a rare disease. A child with generalized developmental delay came to the pediatric clinic. He showed schizencephaly on MRI, and was referred to department of rehabilitation. During rehabilitative evaluation, the patient was referred to the department of ophthalmology due to esotropia. We found that the patient had little esotropia, but did have nystagmus. Therefore, we report a case of congenital nystagmus associated with schizencephaly. METHODS: A one-year-old boy showing schizencephaly on MRI and esotropia underwent examination. RESULTS: The patient did not have a remarkable past or familial history, and didn't show any other anomaly. There were no abnormal findings on slit lamp examination, and according to strabismus studies, he showed very little esotropia. He did show nystagmus. We couldn't find any significant refractive error or ocular dysfunction on cycloplegic refraction and fundus examination, respectively. Visual evoked potential showed normal findings. On MRI, ordered by the pediatrician, open-lip type schizencephaly on the right frontal lobe and absence of septum pellucidum were seen. There was no endocrinologic abnormality. CONCLUSIONS: We report the case of a child with congenital nystagmus accompanied by schizencephaly, and present a literature review.

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.