Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome / Esotropia, nistagmo e estafiloma de disco óptico na síndrome de Donnai-Barrow

ABSTRACT A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma.

RESUMO Paciente do sexo masculino, 12 anos, com diagnóstico intrauterino de síndrome de Donnai-Barrow, apresentava ao exame oftalmológico esotropia, alta miopia, nistagmo e estafiloma de disco óptico. Associado ao quadro, apresentava síndrome de Falconi e perda auditiva neurossensorial, além de alterações faciais, como hipertelorismo, inclinação inferior das fissuras palpebrais e implantação baixa das orelhas. Ressonância magnética revelou agenesia de corpo caloso. Ao nosso conhecimento, este é o primeiro caso relatado associando esotropia, nistagmo e estafiloma de disco óptico.

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations. A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations. Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma. Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

[Cervical vertigo from the perspective of an otorhinolaryngologist]. / Sheinoe golovokruzhenie: vzgliad otorinolaringologa.

At present, the skeptical attitude toward the term 'cervical vertigo' (CV) predominates in the ENT-community. Such point of view is attributable to the absence of specific CV symptoms and well-defined diagnostic criteria. The present literature review was designed to consider the results of the clinical observations and experimental investigations obtained during the past 150 years that give evidence of the possibility to regard cervical vertigo as a separate nosological entity. The characteristic signs of this condition are analyzed and systematized. Four CV variants are currently distinguished. The principles of diagnostics and treatment of cervical vertigo are discussed and general concept of CV is formulated.

Perfil do paciente albino com visão subnormal e melhoria da acuidade visual com a adaptação de recursos ópticos e/ou eletrônicos / Profile of albinism with low vision and improvement of visual acuity with the adaptation of optical and / or electronic resources

RESUMO Objetivo: Determinar o perfil do paciente albino no departamento de visão subnormal do Instituto Benjamin Constant. Ressaltar o tempo de acompanhamento, a frequência do seguimento, e a melhora visual com a adaptação de recursos ópticos e/ou eletrônicos. Métodos: Estudo retrospectivo com dados de 77 pacientes albinos com idade entre 1 a 53 anos de idade atendidos no Instituto Benjamin Constant, entre 2003 e 2014. Resultados: O recurso óptico mais adaptado foi o telescópio de Galilleu 2.8x. Todos os pacientes referiram ganho de visão com os equipamentos. A maioria dos pacientes apresentaram acuidade visual com recursos ópticos entre 20/25 e 20/160. Conclusão: Os recursos ópticos auxiliaram na melhora da função visual e na qualidade de vida dos pacientes com albinismo ocular.

ABSTRACT Objective: Determine the profile of albinism in Low Vision Department of Benjamin Constant Institute. Highlight the follow-up, the frequency of follow-up, and the visual improvement with the adaptation of optical and / or electronic resources . Methods: A retrospective study with data from 77 patients with ocular albinism aged 1- 53 years old attended at Benjamin Constant Institute between 2003 and 2014. Results: The most suitable optical feature is the telescope Galilleu 2.8x . All patients reported gain vision with the resources . Most patients experienced visual acuity with optical devices between 20/25 - 20/160 . Conclusion: Optical resources assisted in the improvement of visual function and quality of life of patients with ocular albinism.

Descripción, interpretación, análisis e importancia del nistagmus inducido por la hiperventilación en el estudio de patologías vestibulares periféricas y centrales / Description, interpretation, analysis and importance of hyperventilation -induced nystagmus in the study of the peripheral and central vestibular disorders

Recientes estudios clínicos han revelado la utilidad del test del nistagmus inducido por la hiperventilación aguda, en la investigación de patologías vestibulares retrolaberínticas, neurales y de origen central, con la aparición de nistagmus paréticos o bien excitatorios. El propósito de este estudio ha sido: primero, conocer la sensibilidad de este examen según el análisis de los estudios de diferentes autores; segundo, entender la fisiopatología de este nistagmus inducido por la hiperventilación y tercero, efectuar una interpretación y análisis de este examen que permita obtener conclusiones sólidas del mejor nivel de medicina basada en evidencias. Para efectuar este estudio y análisis se procedió a una investigación exhaustiva de las publicaciones sobre el tema en los últimos 25 años, recurriendo para ello como fuentes de información a las principales bases de datos biomédicos y a la revisión en texto completo de estas publicaciones. Llamó la atención la escasez de trabajos clínicos publicados sobre el tema que no superan los 40, y también la escasez de trabajos sobre la fisiopatología del nistagmus inducido por la hiperventilación aguda. La metódica del test es muy simple por lo que su utilización resulta muy atractiva, con un escaso número de falsos positivos. La mayor parte de los estudios publicados, se focaliza en su utilización en el schwanoma vestibularyen la neuronitis vestibular. Respecto al schwanoma vestibular de un total de 107 pacientes estudiados el test fue positivo en el 80 por ciento de los casos, con aparición de nistagmus ipsilesional o contralesional. En la neuronitis vestibular la positividad del test alcanzó a 60 por ciento de un total de 272 pacientes estudiados y que estaba en relación directa con el tiempo de evolución de la enfermedad. En la esclerosis múltiple, en pacientes con síntomas vestibulares, la positividad del test fue de 75 por ciento, en cambio en aquellos pacientes sin síntomas vestibulares...

Recent clinical studies have revealed the usefulness of the hyperventilation-induced nystagmus in retrolabyrinthine and central vestibular diseases with the appearance either excitatory (ipsilateral) or paretic (contralateral) nystagmus. The objectives of this study have been: 1) to get to know the sensitivity of the exam, according to the best literature available; 2) to get to know the physiopathology of this hyperventilation-induced nystagmus, and 3) to carry out an analysis and interpretation of this exam in order to reach solid conclusions of the highest level in evidence based medicine. An exhaustive research of literature published on this topic in the last 25 years was carried out. The main source of information being the most important medical data-based publications and also a thorough revision of these texts. The scarce number of publications on this topic (not more than 40) is what strikes the attention most, as well as the very few studies of the physiopathology of the hyperventilation-induced nystagmus. The method of the test is a simple one; this fact makes its application an attractive one, with a low number of false positive. Most of the studies published are focused on its application in the vestibular schwannoma and in the vestibular neuritis. As to what the Vestibular schwannoma is concerned, ofa group of 107 patients studied, the test was positive in 80 percent of the cases, with the appearance of ipsilesional or contralesional nystagmus. In vestibular neuritis the test was positive in 68 percent of a number of 272 patients; this amount was in direct correlation with the time of evolution of the disease. In multiple sclerosis, in patients with vestibular symptoms, the test gave positive in 75 percent, whereas in those patients without vestibular symptoms it was positive only in 7 percent. In patients with cerebellar diseases, particularly degenerative ones this test was positive in 78 percent of the cases...

Achados otoneurológicos em um caso de miopatia inflamatória / Otoneurological findings in an inflammatory myopathy case

TEMA: a polimiosite é uma enfermidade sistêmica idiopática caracterizada por um processo inflamatório não supurativo que acomete a musculatura esquelética e manifesta-se clinicamente por fraqueza muscular proximal e simétrica. Possui incidência variável, cerca de um caso para cada 100 mil habitantes, havendo predominância no sexo feminino. PROCEDIMENTOS: avaliou-se no Setor de Otoneurologia de uma Instituição, um paciente com diagnóstico de polimiosite, com 60 anos, do sexo feminino, que referiu dificuldade para escutar no ouvido direito, zumbido, ansiedade, insônia, dificuldade nos movimentos do pescoço e dor irradiada para ombros e braços. Foram realizados os seguintes procedimentos: anamnese, inspeção otológica, avaliação audiológica e vestibular. RESULTADOS: a) na avaliação audiológica apresentou, perda auditiva neurossensorial de grau moderado na orelha direita e limiares auditivos dentro dos padrões de normalidade na orelha esquerda; b) na imitanciometria apresentou, curva timpanométrica do tipo "A" e presença dos reflexos estapedianos bilateralmente; c) no exame vestibular observou-se, nistagmo semi-espontâneo do tipo múltiplo e ausência do efeito inibidor da fixação ocular. CONCLUSÃO: observou-se alteração nos exames realizados, principalmente, no exame labiríntico que demonstrou a importância de sua realização e a sensibilidade na captação de alteração que sugeriu envolvimento do sistema nervoso central contribuindo dessa forma, para uma intervenção e acompanhamento terapêutico mais rápido e eficaz.

BACKGROUND: polymyositis is an idiopathic systematic disease characterized by a non-suppurative inflammatory process which attacks the skeletal musculature and manifests itself clinically by proximal and symmetrical muscular debility. It shows a variable incidence, approximately one in every hundred thousand inhabitants, predominately in females. PROCEDURES: a patient, 60 years, female and diagnosed with polymyositis was evaluated in the Otoneurology Sector of an Institution, referred having hearing difficulties in the right ear, tinnitus, anxiety, insomnia, difficulties in neck movement and shoulders and arms disseminated pain. The following procedures were carried out: anamnesis, otological inspection, audiological evaluation and vestibular exam. RESULTS: a) in the audiological evaluation there was sensorineural hearing loss from moderate degrees in the right ear and normal hearing thresholds in the left ear; b) in the imitanciometry there was a type "A" tympanometric curve and the presence of the stapedial reflexes, bilaterally; c) in the vestibular exam, semi-spontaneous multiple nystagmus and an absence of the inhibiting effect for ocular fixation were observed. CONCLUSION: alterations were observed in the accomplished exams, mainly in the vestibular exam, which demonstrated the importance for being carried out; and the sensitivity in the acquisition of the alteration which suggested an involvement of the central nervous system, contributing, thus, to a faster and more effective intervention and therapeutic accompaniment.

Trastornos vestibulares más frecuentes en la infancia / Vestibulars disorders most common in childhood

El sistema vestibular constituye uno de los sistemas de aferencia sensorial que participa en la estructuración de los mecanismos de coordinación voluntaria de las extremidades y del tronco corporal, así como de los controles de la oculomotilidad, mediante la interacción visual, vestibular y propioceptiva que tiene lugar en el tronco cerebral y es modulada por el cerebelo. Para que el SNC regule o se ajuste a los diferentes cambios de posición, necesita ser informado de la posición del cuerpo en el espacio. Esta información proviene del sistema vestibular (oído interno), sistema visual, de la sensibilidad superficial y profunda propioceptiva, tendones, músculos y articulaciones. El síndrome vertiginoso tanto fisiológico como patológico está dado por una serie de fenómenos: perceptual (vértigo), secundario a una coordinación de la dirección específica del reflejo vestíbulo ocular, cuya actividad radica en el circuito neuronal del cerebro; oculomotor (nistagmus): su causa está dada por un disturbio de la dirección específica del reflejo vestíbulo ocular, cuya actividad radica en el circuito neuronal del cerebro; postural (ataxia) cuya causa es una inapropiada activación de las neuronas mono y polisinápticas de las sendas vestibulares espinales y vegetativo (palidez, sudoración, náuseas y vómitos...(AU)

Vestibular system is one of the sensorial aference systems, which participate in the structuration of voluntary coordination mechanisms of the extremitiesand the human body trunk, and in oculomotility control, with visual, vestibular and propioceptive interaction. It is located on brain trunk and modulated by cerebellum.Central Nervous System needs to be informed about the body position in space for regulating different position changes. This information comes from vestibular (internal ear) and visual systems and from superficial sensibility, propioceptive deep sensibility, muscles, articulations and tendons too. Dizziness syndrom, pathological or not, is produced by several fenomenus: perceptual (dizziness), which is secundary to a coordination of specific direction of ocular-vestibular reflex; oculomotor (nystagmus), caused by a disorder in specific direction of ocular-vestibular reflex, that acts in neuronal circuit of brain; postural (ataxia), caused by a wrong activation of mono and polysynaptic brain cells from spinal vestibular vias; and vegetative, that includes nauseas, paleness, sweating and vomiting...(AU)

Aniridia congénita / Congenital aniridia

Presentar un caso de aniridia congénita bilateral asociada con catarata e hipoplasia foveal y revisar la literatura existente. Métodos: revisión de la literatura y de la historia clínica de un paciente que consultó al Hospital de San José de Bogotá DC. Conclusiones: la aniridia es una alteración panocular, bilateral, muy poco frecuente que afecta la córnea, cámara anterior, iris, cristalino, retina, mácula y nervio óptico. Tiene una incidencia entre 1:64.000 y 1:100.000. Puede encontrarse de manera aislada o en asociación con otros síndromes, incluyendo el tumor de Wilms, anormalidades genitourinarias y retardo mental (síndrome de WARG).

to present one case of bilateral congenital aniridia associated with cataracts and foveal hypoplasia and conduct a review of available literature. Methods: a review of literature and clinical record of a patient who consulted Hospital de San José, Bogotá DC. Conclusions: aniridia is a rare panophthalmic disorder which involves the cornea, anterior chamber, iris, lens, retina, macula and optic nerve. Its incidence is between 1:64.000 and 1:100.000. It may occur alone or associated with other syndromes, such as Wilms tumor, genitourinary abnormalities and mental retardation (WARG Syndrome).

Frecuencia de estrabismo en pacientes con retinopatía de la prematuridad / Frequency of strabismus in patients affected by retinopathy of prematurity

INTRODUCCIÓN: Se realiza esta investigación con el objetivo de determinar la frecuencia de estrabismos en pacientes con antecedentes de retinopatía de la prematuridad. MÉTODOS: Estudio descriptivo observacional retrospectivo en 61 pacientes con diagnóstico de retinopatía de la prematuridad, atendidos en el servicio de Baja Visión del Instituto Cubano de Oftalmología en el período de enero 2005 a enero 2008. Los datos fueron obtenidos de las historias clínicas. Se analizaron las siguientes variables: tipo de estrabismo, edad gestacional, peso al nacimiento, tiempo de duración de oxígeno, estadios y trastornos refractivos. RESULTADOS: El mayor número de pacientes correspondió a las esotropías 52,5 por ciento. En relación con la edad gestacional en el intervalo de 28,1-32 semanas las esotropías aportaron un 32,8 por ciento, las exotropías 6,6 por ciento y el nistagmus 9,8 por ciento presentaron mayores números de casos en el intervalo de 32,1-36 semanas. Según el peso al nacer la esotropía, exotropía y el nistagmus presentaron mayor número entre 1 001-1 700 g. En relación con la duración del oxigeno el mayor número se encontraron en los expuestos a más de 8 días, el estadio de la ROP que más casos presentó fue el estadio III, el trastorno refractivo más frecuente fue la miopía. CONCLUSIONES: El estrabismo más frecuente fue la esotropía. En relación con la edad gestacional la mayoría de las esotropías se presentaron antes de las 32 semanas y las exotropías y el nistagmus se presentan en mayor número después de las 32 semanas. El defecto refractivo más frecuente es la miopía.

INTRODUCTION: This research work was aimed at determining the frequency of strabismus on patients with a history of retinopathy of prematurity. METHODS: A retrospective, observational and descriptive study was conducted in patients with retinopathy of prematurity, who were seen at "Ramón Pando Ferrer" Cuban Institute of Ophthalmology Low Vision Service from January 2005 to January 2008. The data were collected from the medical histories of 61 patients. The following variables were analyzed: type of strabismus, gestational age, birth weight, length of exposure to oxygen, staging and refractive disorders. RESULTS: The highest number of patients (52.5 percent) presented with esotropia. Regarding the 28.1-32 week gestational age, esotropias represented 32.8 percent; and exotropias, 6.6 percent whereas nistagmus (9.8 percent) was found in 32.1-36 week pregnancy. Esotopia, exotropia and nistagmus exhibited the highest number of cases in birthweight ranging from 1 000 to 1 700 g. Regarding the length of exposure to oxygen, those patients exposed for more than 8 days were the majority; the stage III of ROP was predominant and the most frequent refractive disorder was myopia in patients with strabismus. CONCLUSIONS: Esotropia was the most frequent type of strabismus. Most of esotropias occurred before 32 week gestational age. Exotropias and nistagmus were significantly present after 32 weeks of pregnancy. The most common refractive defect was myopia.

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.