Optic Nerve Aplasia.

OBJECTIVE: Optic nerve aplasia (ONA) is a rare ocular anomaly. We report ophthalmologic, systemic, and genetic findings in ONA. METHODS: Patients were identified through an International Pediatric Ophthalmology listserv and from the practice of the senior author. Participating Listserv physicians completed a data collection sheet. Children of all ages were included. Neuroimaging findings were also recorded. RESULTS: Nine cases of ONA are reported. Patients' ages ranged from 10 days to 2 years (median 9 months). Seven cases were bilateral. All patients had absence of the optic nerve and retinal vessels in the affected eye or eyes. Ophthalmologic findings included glaucoma, microcornea, persistent pupillary membrane, iris coloboma, aniridia, retinal dysplasia, retinal atrophy, chorioretinal coloboma, and persistent fetal vasculature. Systemic findings included facial dysmorphism, cardiac, genitourinary, skeletal, and developmental defects. A BCOR mutation was found in one patient. One patient had rudimentary optic nerves and chiasm on imaging. CONCLUSION: ONA is a unilateral or bilateral condition that may be associated with anomalies of the anterior or posterior segment with or without systemic findings. Rudimentary optic nerve on neuroimaging in one case suggests that ONA is on the continuum of optic nerve hypoplasia.

A doubly paradoxical vertical eye deviation with an a pattern strabismus in plagiocephaly: management and a case report with outcome.

Anterior plagiocephaly is a craniofacial anomaly related to premature uni-lateral synostosis. We present a case of anterior plagiocephaly with vertical strabismus, overaction of the contralateral superior oblique muscle and an A pattern. A detailed ophthalmic examination and radio-imaging were done. The patient underwent strabismus surgery and resolution of the strabismus was obtained. Plagiocephaly has been reported to simulate ipsilateral superior oblique muscle paresis. We report a rare occurrence of contralateral superior oblique muscle overaction in an adult with anterior plagiocephaly.

Diagnosis and surgical treatment of dissociated horizontal deviation strabismus.

PURPOSE: Obtaining satisfactory binocular alignment in patients with Dissociated Horizontal Deviation (DHD) requires a proper diagnosis and a specific surgical strategy. Clinical characteristics, surgical treatment and the results obtained in 20 patients with DHD are reported with a mean of 35 months postsurgical follow up. PATIENTS AND METHOD: Retrospective record review of patients with DHD who underwent surgery between 2000 and 2007. Patient data were recorded, including age, sex, history of prior surgery, visual acuity, pre-operative angle with each eye fixing, Reversed Fixation Test (RFT) when available, type of operation performed, and final binocular alignment. RESULTS: Twenty patients were identified, mean age 11.7 years old, all of them with age less than 12 months at the time of strabismus onset. Ten of them had had prior surgery for congenital esotropia. Nine showed exotropia (XT), 9 esotropia (ET) and 2 had ET when fixing with OS and XT when fixing with OD. All of them also had an associated Dissociated Vertical Deviation (DVD). Seven patients had amblyopia in the non-dominant eye. Six patients underwent a single operation, 13 underwent 2 operations and 1 needed 3 surgeries to obtain satisfactory binocular alignment. CONCLUSIONS: Patients with DHD also exhibit bilateral and, very often, asymmetric DVD. Therefore, a surgical plan for both the horizontal and vertical dissociation drift of the eyes is needed. Bilateral surgery is almost always necessary, even in cases with a strong fixation preference, in order to obtain satisfactory binocular alignment.

Effects of innervational strabismus surgery on a patient with hypotropic strabismus and pseudoblepharoptosis.

PURPOSE: We seek to analyze the results of the innervational surgery in a case of hypotropia with peudoptosis with vidiooculography (3D-VOG). CASE REPORT: We present the clinical case of a 35 year old male suffereing from acquired ptosis of the left eyelid, present since the age of 10 and who was interested in cosmetic surgery. The preoperative 3D-VOG shows hypotropia of the left eye (22.5 degrees), minimum exotropia and intorsion together with limitation in the elevation of the left eye with positive passive duction test and pseudoptosis. RESULTS: Surgery was carried out in three stages: 1. Recession of the superior rectus of the right eye (RE) resulting in an improvement in the elevation and the pseudoptosis; 2. Recession of the inferior rectus of the left eye (LE), with improvement in the elevation of the LE but deterioration of the pseudoptosis; 3. Resection of the inferior rectus of the RE which improves both the elevation as well as the pseudoptosis of the LE. CONCLUSIONS: We consider the usefulness of the innervational techniques in the incomplete third nerve paralysis with important affectation in the elevation, making it necessary to check and in this case eliminate the restrictive effects although this may influence the effect on the pseudoptosis.

Essential infantile esotropia in neurologically impaired pediatric patients: is botulinum toxin better primary treatment than surgery?

UNLABELLED: A prospective study was performed over a 10 year period on 25 children with infantile esotropia and neurological problems to answer this question. From November 1996 to March 2006 they were treated with injections of botulinum toxin (Botox) of both medial rectus extraocular muscles. Mean age was 26.4 months, (range 9-76 months) and mean initial angle was 35 prism diopters (PD)(range 20-60 PD). RESULTS: 18 patients (72%) remained orthotropic+/-10 PD at 29 months (range 6-59 months). Average number of injection treatments was 1.5 per patient. We compared our success rate data with those obtained with primary conventional strabismus surgical procedures in 2 previously published series. Treatment with botulinum toxin seemed to produce better results than one surgical series and at least equally similar results to the other one. Because there are, as well, so many other advantages to the injection procedure including superior safety and economy, we now use botulinum injections as our primary treatment in these patients.

Difficult vertical diplopia studied by video-oculography in aphakia after contact lens use. A case report.

PURPOSE: To establish the utility of a video-oculography system (3D-VOG) in the diagnosis of a patient with difficult idiopathic vertical diplopia. CASE REPORT: We present a clinical case of an 87 year old female who was operated for glaucoma and cataract with the intracapsular technique in both eyes. She reported vertical diplopia with the use of contact lenses but not while using her aphakia spectacles. A complete ophthalmological study was carried out with special interest in the ocular motility study with 3D-VOG. RESULTS: Besides the hypertropia in lateroversion of the non-fixing eye, the video-oculography showed an incyclotorsion of the hypertropic eye, a fundamental factor for the differential diagnosis between bilateral superior oblique overaction and DVD or dissociated vertical divergence. Such a torsional strabismic deviation is very difficult to detail by other methods and is the important clue for diagnosis. The 3D-VOG made this diagnosis possible. CONCLUSIONS: The occurrence of a vertical diplopia with use of contact lenses, and not with spectacles, is explained by the limitation of ocular gaze movements with the aphakia spectacles which limitation is not found with the use of contact lenses, with diplopia appearing in the more extreme lateroversion possible with the contact lenses. The 3D-VOG system enabled us to analyze torsional movements in lateroversion that allowed the diagnosis of bilateral superior oblique overaction to be made.

La maniobra de Bielschowsky en el diagnóstico de estrabismos verticales restrictivos / The Bielschowsky test in the diagnosis of restrictive vertical strabismus

Propósito: Describir el comportamiento de la desviación vertical presente en estrabismos verticales restrictivos a la maniobra de inclinación cefálica de Bielschowsky (MICB). Métodos: 18 pacientes con estrabismo vertical fueron evaluados mediante medición de la desviación vertical con Cover Test (CT) alternado con prismas en las 11 posiciones de la mirada y mediante ducciones pasivas para detección de restricción. No se incluyeron estrabismos paréticos, con ducciones pasivas negativas ni pacientes con cirugías previas sobre los músculos extraoculares de acción vertical. Resultados: Identificamos dos grupos de pacientes Grupo 1: integrado por 9 pacientes con hipotropia restrictiva secundarias a fractura de piso de órbita, síndrome de Brown, contractura de recto inferior, “heavy eye”, contractura de recto superior de ojo fijador contralateral y Grupo 2: formado por 9 pacientes con hipertropia restrictiva por contractura de recto superior o síndrome de Jampolsky, ninguno de los cuales tenía como antecedente una paresia del oblicuo superior previa a la contractura del recto superior. Los pacientes del grupo 1 mostraron aumento de la hipotropia al inclinar la cabeza hacia el lado contrario al afectado y disminución de la desviación vertical al inclinar hacia el lado de la hipotropia. En el grupo 2, de las hipertropias restrictivas, todos mostraron un aumento de la hipertropia al inclinar hacia el hombro ipsilateral y disminución de la misma al inclinar hacia el hombro contralateral. Conclusiones: Los estrabismos verticales restrictivos muestran un comportamiento de la desviación vertical a la maniobra de inclinación cefálica de Bieslchowsky que podría explicase por los recientes hallazgos de Pansell y col. Estos hallazgos amplían la utilidad de la maniobra de inclinación cefálica para diagnóstico de estrabismos veticales de diverso origen.

Purpose: To report the vertical deviation behavior to Bielschowsky head tilt test (BHTT), in restrictive vertical strabismus. Methods: Eighteen patients with vertical strabismus were evaluated by prism cover test in the eleven positions of gaze and by forced ductions to detect restrictions. Paretic deviations, cases with negative forced ductions or with previous surgery on the vertical rectus muscles were excluded. Results: Two groups of patients were indentified: Group 1: 9 patients with restrictive hypotropia secondary to blow out floor fracture, Brown syndrome, inferior rectus contracture, (heavy eye) and Group 2: 9 patients with restrictive hypertropia (Jampolsky syndrome) neither of whom had SO palsy previous to SR contracture. Group 1: the patients had greater hypotropia in contralateral head tilt and better ocular alignment in ipsilateral tilt. Group 2: the cases had greater hypertropia in ipslilateral head tilt and better ocular alignment in contralateral tilt. Conclusion: Patients with restrictive vertical strabismus had BHTT responses which could be explained by Pansell et al reports. These finding increase the potential uses of BHTT as a diagnostic tool for vertical strabismus.

Síndrome de Brown bilateral / Bilateral Brown syndrome

Objetivo: El síndrome de Brown (SB) se caracteriza por restricción activa y pasiva de la elevación en adducción. Puede ser congénito o adquirido, intermitente o permanente, uni o bilateral; este último se presenta en el 10 por ciento de los casos. Nuestro objetivo es describir 9 casos de SB bilateral y revisar la literatura al respecto. Pacientes: se describen características clínicas de 9 casos y se revisa la literatura. Resultados: De los 9 casos, 2 eran de sexo masculino, y 7 de sexo femenino. Edad promedio: 5.7 años. 1 caso intermitente. Los casos publicados en diferentes series son: 13/126 (Brown), 3/8 (Clark y Noel), 7/36 (Waddell ) y 1/30 (Eustis). Entre los casos bilaterales hay alta incidencia de casos familiares. Conclusión: Se confirma que el cuadro es más común en mujeres. 7/9 tenía alineamiento en posición primaria. Todos tenían déficit bilateral de elevación y anisotropía en V. Frente a un caso de SB bilateral es conveniente examinar a los familiares en busca de casos asintomáticos.

Objective: The motility defect known as Brown´s síndrome is characterized by active and passive restriction of elevation in adduction. It may be either congenital or acquired, intermittent or permanent, uni or bilateral. It is bilateral in 10 percent of cases. Our purpose is to report 9 cases with bilateral Brown´s syndrome and review the cases previously published. Patients: 9 cases are described: 2 males and 7 females, average age 5,7 years who had bilateral Brown´s syndrome and review. Results: 9 cases are described: 2 males and 7 females, average age 5,7 years who had bilateral Brown´s syndrome, 1 of them was intermittent. Bilateral cases published are: 13/126 in Brown´s series, 3/28 in Clark and Noel´s, 7/36 in Waddell´s and 1/30 in that of Eustis. Among bilateral cases there is a striking incidence of familial cases. Conclusion: Brown´s statement that the disorder is more common in females than in males is confirmed in our series. It should be noted that 7 out of 9 of these patients had normal alignment in primary gaze. All cases had bilateral elevation deficit and V pattern. In bilateral cases examination of the relatives should be performed in order to detect asymptomatic familial cases.

Myasthenia gravis in childhood.

INTRODUCTION: Pathologic alterations in neuromuscular transmission, known as Myasthenia Gravis (MG), comprise combinations (forms) of pre- and post-synaptic changes whose age at onset and clinical manifestations are dissimilar. Some forms have autoimmune features, while others have a defect due to functional or structural plaque alternations. The purpose of this work is to describe the clinical forms of MG seen in childhood, to facilitate proper diagnosis and treatment. MATERIAL AND METHODS: Retrospective data from 87 patients studied at the Ricardo Gutierrez Children's Hospital from 1990 to 2002 are presented. They were evaluated by clinical, pharmacological, electrophysiological, laboratory and radiological exams. RESULTS: Three distinct groups of patients were found: Group 1, Transient Neonatal Myasthenia Gravis (TNMG) represented 6.8% 9 (n=6) of the total number of patients. None of these six patients had ocular involvement. Group 2, Congenital Myasthenia (CMG) represented 17.2% of cases 9 (n=15). These patients had an onset of symptoms from 1 to 12 months of age. Eight cases were sporadic and the remainder familial. The most frequent symptom in this group was bilateral blepharoptosis in 13 patients. Group 3, Juvenile Myasthenia (JMG) comprised 76% of the patients (n=66). The onset of symptoms in this group ranged from 13 months to 14 years (mean 3.6 years). Thirty-nine of these children presented purely with ocular symptoms. CONCLUSIONS: Children with myasthenia gravis may present to the ophthalmologist first, with symptoms such as unilateral or bilateral blepharoptosis, diplopia, strabismus or ophthalmoplegia. Therefore, it is essential that the ophthalmologist be aware of the varied features of this disorder in children in order to diagnosis it correctly and make appropriate treatment referrals.

Unilateral superior oblique paresis: deviation patterns and surgical indications.

PURPOSE: To analyze different patterns of vertical strabismic deviations seen in unilateral superior oblique (SO) paresis, and the response to surgical treatment, in order to discern the most effective surgical indication to treat each clinical pattern. MATERIAL AND METHOD: A retrospective analysis of 110 patients with a diagnosis of unilateral SO paresis studied according to the follow protocol: a) Hypertropia (HT) measurement with alternate prism and cover test in the 9 diagnostic gaze positions; b) Determination of the deviation pattern; and c) Analysis of the results achieved with various surgical procedures. RESULTS: We found that unilateral SO paresis presented with 3 patterns of HT: 1) Patients with marked incomitance between opposite lateroversions; 2) Cases with HT equal to or greater than 20 prism diopters in primary gaze position, lower incomitance between opposite lateroversions and incomitance in up- and downgaze; and 3) A pattern of vertical deviation characterized by a strong tendency to comitance in the 9 diagnostic gaze positions, with an overtly positive Bielschowsky Head Tilt Test and extorsion of the affected eye. CONCLUSIONS: This study provides guidelines to discern the most effective surgical indication for patients with unilateral SO paresis on the basis of the presenting hypertropia pattern.

When the patient says no. Management of exotropia with hemianopic visual field defects.

BACKGROUND: A homonymous hemianopia can be compensated for by an exotropia in the direction of the visual field defect. CASE REPORTS (AND LITERATURE REVIEW): Two young males with visual field defects and exotropia are reported. Both refused surgery when they were advised of the risk of reduction of their binocular visual field with the alignment of their eyes. CONCLUSION: Mapping of the binocular visual field is mandatory in patients with exotropia and neurological involvement to search for this rare combination which could produce a disappointing surgical outcome.

A surgical alternative for dissociated vertical deviation based on new pathologic concepts: weakening all four oblique eye muscles. Outcome and results in 9 cases.

PURPOSE: To test new and recent theories on the etiology of Dissociated Vertical Deviation (DVD) with an appropriate new alternative surgical technique. METHOD: Nine patients were prospectively selected. The surgical technique used was simultaneous and symmetrical weakening of all 4 oblique eye muscles in order to reduce bilateral cyclotorsion. For analysis, "Statistical Significance" level used was p<0.05. RESULTS: Mean preoperative hypertropia was 17.9 prism diopters (pd) for the right eyes (RE) and 17.7 pd for the left eyes (LE). Mean post-surgical deviation achieved was 6.44 pd for the REs and 5.78 pd for the LEs. Statistical analysis (Wilcoxon's Test) showed a p<0.02 for both eyes. In all cases, a symmetrical correction was also obtained. CONCLUSIONS: The hypothesis that the manifest hypertropia seen in patients with DVD is secondary to cyclotorsion, mediated primarily by the oblique muscles, was validated by improving (reducing) the DVD by performing bilateral and symmetrical weakening of all four oblique extraocular muscles.

Recession and anterior transposition of the inferior oblique muscle [RATIO] to treat three cases of absent inferior rectus muscle.

BACKGROUND AND PURPOSE: The "loss" of an extraocular muscle during a surgical procedure requires a prompt solution. Muscle agenesis produces a strabismus of difficult resolution. In these cases, alternative strategies are required to restore the binocular alignment. We present three consecutive cases of inferior rectus absence that were successfully surgically resolved. SUBJECTS AND METHODS: Three children with absent inferior rectus muscles are presented; one due to loss during strabismus surgery and two due to inferior rectus agenesia. All were treated with recession and anterior transposition of the inferior oblique muscle [RATIO]. RESULTS: All patients achieved a satisfactory result with the technique employed. CONCLUSION: RATIO is a useful procedure to restore binocular alignment in cases of inferior rectus absence.