Congenital fibrosis of the extraocular muscles: review of recent literature.

PURPOSE OF REVIEW: Congenital fibrosis of the extraocular muscles (CFEOM) is caused by abnormal development of the innervation of extraocular muscles. We update the recent literature regarding the clinical, anatomic, genetic, and molecular characteristics of CFEOM. Surgical considerations are addressed. RECENT FINDINGS: CFEOM is broken down into three main subtypes, CFEOM1, CFEOM2, and CFEOM3. Several recent reports of individuals, as well as family pedigrees, highlight the phenotypic heterogeneity of CFEOM. Intracranial and intraorbital radiologic findings have enhanced our understanding of the disease pathophysiology. Molecular genetics research has increased our understanding of the development of extraocular muscles and their innervation as well as pathophysiology of CFEOM. SUMMARY: Our understanding of the pathophysiology of CFEOM has increased with the recent contributions from neuroimaging, molecular genetics, and pedigree analysis. Surgical management of patients with CFEOM continues to be challenging.

Ophthalmoplegia in Mitochondrial Disease.

PURPOSE: To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease. MATERIALS AND METHODS: Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified. Inclusion criteria included onset before 20 years of age, pigmentary retinopathy, and cardiac involvement. The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO). RESULTS: The prevalences of clinical findings were as follows: ptosis and retinopathy, both over 80%; myopathy, including extraocular muscles, 75%; lactic acidosis, 71%; and elevated levels of serum creatine kinase, 47%. Half of the patients had normal magnetic resonance imaging findings. A biochemical enzyme assay revealed mitochondrial respiratory chain complex I defect as the most common (50%). The prevalence of abnormal muscle findings in light or electron microscopic examinations was 50% each, while that of large-scale mitochondrial DNA (mtDNA) deletions in a gene study was 25%. We compared the KSS and KSS-like groups with the CPEO patient group, which showed pigmentary retinopathy (p<0.001), cardiac conduction disease (p=0.013), and large-scale mtDNA deletions (p=0.038). KSS and KSS-like groups also had gastrointestinal tract disorders such as abnormal gastrointestinal motility (p=0.013) unlike the CPEO group. CONCLUSION: Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS.

Validation of ICHD-3 beta diagnostic criteria for 13.7 Tolosa-Hunt syndrome: Analysis of 77 cases of painful ophthalmoplegia.

BACKGROUND: Three editions of International Classification of Headache Disorders (ICHD) diagnostic criteria for Tolosa-Hunt syndrome (THS) have been published in 1988, 2004 and 2013, in ICHD-3 beta, there have been considerable changes [corrected]. The validity of these new diagnostic criteria remains to be established. METHODS: We retrospectively identified 77 patients with non-traumatic painful ophthalmoplegia (PO) admitted between 2003 and 2013. We reviewed patients' age at onset and gender, time courses between onset of pain and development of cranial nerve palsy, the cranial nerves involved, imaging findings, therapeutic efficacy of steroid treatment and recurrence of attacks. RESULTS: THS was the most frequent type of PO (46/77). In THS patients, the third cranial nerve was most commonly involved (76.3%). The median time interval between pain and cranial nerve palsy was two days, although in five patients (10.9%) the interval ranged from 16 to 30 days. Definitely abnormal MRI findings were found in 24 patients (52.2%). CONCLUSIONS: It is essential to rule out other causes of PO in diagnosing THS, with MRI playing a crucial role in differential diagnosis. It may be helpful to understand and master the entity of THS for researchers and clinicians to adjust the gradation and ranking of the diagnostic criteria.

Painful ophthalmoplegia: an unresolved clinical problem.

Painful ophthalmoplegia (PO) is an important presenting problem to ophthalmologists and neurologists. The etiological differential diagnosis is extensive, including different syndromes and causes (vascular, neoplastic, infectivous, inflammatory). Current neuroimaging techniques allow visualisation of the area of the suspected pathology. Some rare causes of PO, such as Tolosa Hunt syndrome with negative neuroimaging findings or ophthalmoplegic migraine remain till now of uncertain classification. Correct approach to the patient requires correlation to clinical data and careful monitoring, to avoid diagnostic mistakes, as the "history" of Tolosa-Hunt syndrome has underlined.

Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles.

PURPOSE: To outline the clinical features and surgical treatment of patients with familial and sporadic (simplex) forms of congenital fibrosis of extraocular muscles (CFEOM) from 2 countries, and to classify them according to phenotype and mode of inheritance. DESIGN: Observational and experimental study. METHODS: Twenty-eight affected individuals from 20 families with familial or sporadic CFEOM underwent assessment of ocular motility, visual acuity, slit-lamp biomicroscopy, tonometry, and ophthalmoscopy. Seventeen patients had a variety of eye muscle procedures and ptosis repair. RESULTS: There were 1 Iranian family with autosomal dominant CFEOM, 4 Iranian families with autosomal recessive disease, and 15 simplex cases with various CFEOM phenotypes. Two simplex patients had unilateral disease. All other cases were bilateral. Inferior rectus recession improved hypotropia and Bell's phenomenon in the patients with infraducted eyes and chin elevation. Horizontal muscle recession, sometimes combined with opposite muscle resection, corrected horizontal strabismus satisfactorily in most cases. Ptosis was repaired by frontalis sling and/or levator resection. CONCLUSION: Definite recessive CFEOM was present only in Iranian patients. American patients had the classic phenotype of dominant CFEOM, which was also observed in some of the Iranian patients. The surgical management of patients with CFEOM is challenging. Correction of vertical and horizontal strabismus was addressed using large muscle recessions. Ptosis repair should aim at placing the lid level 1 to 2 mm above the pupil in the primary position to avoid exposure keratopathy.

[Basic methods of strabismology]. / Basisuntersuchungen der Strabismologie.

Basic examination techniques for manifest and latent strabismus as well as for paralytic strabismus are discussed. Usually the medical history gives the first clues for the form of strabismus. The examination starts with an evaluation of the head posture. The objective angle is estimated through corneal reflections and the corrective saccade (cover test). Uncover and cover testing allows the differentiation between manifest and latent strabismus. The Lang test, Bagolini's test and the light red glass test provide information regarding quality of binocularity (abnormal and normal retinal correspondence). Estimation of changes in the angle of strabismus in the diagnostic gaze positions by corneal reflections, cover test and the limbus test of Kestenbaum is complemented by testing of the visual acuity and fixation. Without evaluation of fixation neither the cover test nor tests for binocularity can be interpreted adequately.

[Reflections on expert assessment of double vision and forced head position]. / Uberlegungen zur gutachterlichen Bewertung von Doppeltsehen und Kopfzwangshaltung.

Visual impairment in patients with diplopia can be assessed using a scoring method in front of a tangent screen. The primary position is the starting position for these measurements. For medicolegal judgement the scoring is based on a suggestion of Haase and Steinhorst, ranging from a disability of 0% to 25%. A new proposal for scoring the field of binocular single vision (BSV) is made here: A field between 30 degrees right and left gaze, 20 degrees upgaze and 40 degrees downgaze is defined as used under every day conditions. It is divided such that diplopia in one lateral half field corresponds to 13% disability, in the upper half 10% and in the lower 18%. Patients suffering from a unilateral superior oblique palsy often show a slight torticollis. In these cases the habitually assumed head position should be taken as the starting posture for the tangent screen measurements.

Oftalmoplejia internuclear bilateral y esclerosis múltiple / Bilateral internuclear ophtalmoplegia and multiple sclerosis

Las lesiones del fascículo longitudinal medial en el tallo cerebral son las causantes del clásico y poco frecuente síndrome de Oftalmoplejia internuclear en el que se afecta la mirada conjugada hacia el lado de la lesión con nistagmo del ojo que abduce, Cuando la lesión es superior (anterior) puede afectar la convergencia, no así si la lesión es posterior (inferior). Se presenta el caso de una paciente de 27 años de edad que acude al Servicio de Emergencia con oftalmoplejia internuclear bilateral y posterior. El interrogatorio y el examen clínico dirigen la impresión diagnóstica a Esclerosis Múltiple como probable etiología de este síndrome, lo que se comprueba por la evolución de la paciente y estudio complementario (laboratorio, licuóricos y de potenciales evocados) en especial de resonancia Magnética Nuclear que demuestra, entre las múltiples lesiones desmielinizantes, la afectación bilateral a nivel protuberancial, del fascículo logitudinal medial

Parálisis adquiridas del III nervio en los adultos: evolución y pronóstico / Acquired III cranial nerve paralysis in adults: history and prognosis

En el período 1989/92, fueron examinados 31 pacientes con parálisis aislada del III nervio, excluyéndose las oftalmopatías restrictivas, la forma ocular de la miastenia gravis y las parálisis congénitas. La presentación clínica más común fue la parálisis parcial del III nervio y la etiología más frecuente fue la isquémica por hipertensión arterial y/o diabetes. El período de recuperación fue de 30 a 120 días. Mejoró más rápidamente la rama superior y tardíamente la rama inferior a predominio del músculo recto medial. Se enfatiza que de no ocurrir la recuperación dentro del plazo mencionado, se debe efectuar un exhaustivo estudio neuro-radiológico y que los pacientes que presentan una lesión compresiva o traumática pueden desarrollar una regeneración aberrante (AU)

Parálisis adquiridas del III nervio en los adultos: evolución y pronóstico / Acquired III cranial nerve paralysis in adults: history and prognosis

En el período 1989/92, fueron examinados 31 pacientes con parálisis aislada del III nervio, excluyéndose las oftalmopatías restrictivas, la forma ocular de la miastenia gravis y las parálisis congénitas. La presentación clínica más común fue la parálisis parcial del III nervio y la etiología más frecuente fue la isquémica por hipertensión arterial y/o diabetes. El período de recuperación fue de 30 a 120 días. Mejoró más rápidamente la rama superior y tardíamente la rama inferior a predominio del músculo recto medial. Se enfatiza que de no ocurrir la recuperación dentro del plazo mencionado, se debe efectuar un exhaustivo estudio neuro-radiológico y que los pacientes que presentan una lesión compresiva o traumática pueden desarrollar una regeneración aberrante

Paresia del oblicuo superior / Superior oblique paresia

El presente es un estudio de 42 casos de paresia del oblicuo superior. 31 porciento fueron paresias unilaterales. Según la clasificación de Knapp, la clase más frecuente fue la I, con 17 casos (40,5 porciento). Se operaron 25 casos, con buenos resultados en 20 (80 porceinto)

[Classification of congenital superior oblique palsy based on principal component analysis].

An attempt was to classify unilateral congenital superior oblique palsy principal component analysis. Each principal component was calculated by taking a linear combination of an eigenvector of the correlation matrix with a standardized original variable. The variables selected for the analysis were vertical deviation in the nine diagnostic positions of 51 cases measured by a synoptometer. The cumulative contributive percent of principal components showed that 88.5% of the variation were accounted for by the first three principal components. The first principal component accounted for 56.7% of the variation in samples indicating the extent of superior oblique palsy in which vertical deviation increases or decreases proportionately. The second principal component accounted for 20.6% of the variation of samples indicating the extent of the incomitance of vertical deviation with a vertical change of gaze. The third principal component accounted for 11.1% of the variation in the sample indicating the extent of the vertical deviation with a horizontal change of gaze.

[Miller Fisher syndrome: review of the literature and presentation of 2 cases]. / Sindrome di Miller Fisher: revisione della letteratura e presentazione di due casi.

Miller Fisher Syndrome (MFS), which is characterized by ophthalmoplegia, ataxia and tendon areflexia, is generally considered as a clinical variant of Guillain-Barré Syndrome. However some features of the disease are still debated, particularly regarding possible central nervous system involvement. After presenting two new cases of MFS, the authors provide a critical review of the literature and discuss the nosographical position of the disease. The main conclusions can be summarized as follows: MFS is a predominantly axonal inflammatory neuropathy with prevailing involvement of oculomotor nerves. It is associated to spinal multi or polyneuropathy, which in mildly affected cases is manifested by areflexia, while in severe ones it can be responsible of sense and/or motor impairment. In addition to peripheral neuropathy CNS involvement, exclusive or more marked in posterior fossa, occurs not infrequently. The prognosis of the disease is often benign, but disabling or even fatal outcome is possible. Corticosteroid treatment, possibly because of antiinflammatory and/or immunosuppressive action, could be effective in some patients. Finally, in spite of some similarities with GBS, MFS should be considered as a separate entity with its own nosographical position.

[Progressive external ophthalmoplegia]. / Oftalmoplejia externa progresiva.

Progressive external ophthalmoplegia is a myopathic alteration of slow progression which affects the extrinsic ocular muscles; ptosis of the eyelid being the most characteristic sign. Nowadays, it is included as type of muscular dystrophy. Even though mitochondrial changes have been described, they are not specific to this disease. 2 cases are described in this paper, commenting on clinical, electromyographic and pathological aspects.

[Studies of ocular fundus and visual functions in Kearns-Sayre syndrome--with special reference to the new stage classification].

This paper describes the fundus appearance, visual function and electrophysiological findings in five cases of Kearns-Sayre syndrome. In three of them, retinopathy was not seen before the onset of this syndrome. The characteristic "salt and pepper retinopathy" progressed to peripapillary loss of the RPE and choriocapillaris over a period of some years. The ERG, normal in the beginning, became extinct in these cases. They were also at first subnormal for the scotopic as well as for the photopic activity. We distinguished five stages of ocular manifestations in Kearns-Sayre syndrome. Stage 0: The fundus appearance and the visual function are normal. Stage I: "Salt and pepper retinopathy" occurs in the entire retina but the visual function and the ERG are still normal. Stage II: Abnormal visual function and ERG occur with retinopathy. Stage III: A chorioretinal atrophy progresses around the disc and nasal retina and the ERG becomes extinct. Stage IV: The retinopathy demonstrates the appearance of choroidal sclerosis.

Study of Duane's retraction syndrome.

The clinical observations made on 20 patients (24 eyes) of Duane's retraction syndrome are presented. A modification of Huber's classification of the syndrome is suggested in order to make it more clinically orientated.

[Ocular myopathies. Nosological study of 49 cases]. / Myopathies oculaires. Etude nosologique de 49 cas.

This review, based on a personal series of 49 cases and on published data, deals with 2 groups of ocular myopathies: ocular myopathies with mitochondrial abnormalities (red ragged fibres, giant mitochondria with paracrystalline inclusions). Three subgroups are described: pure ocular myopathies (14 cases), ophthalmoplegia "plus" or Kearns-Sayre syndrome (10 cases). In one autopsied case spongiform encephalopathy was present; oculopharyngeal muscular dystrophies (11 cases). These forms are very different from the previous ones: late onset, almost constant autosomal dominant inheritance, dysphagia, rare ophthalmoplegia, rimmed vacuoles on muscle biopsy (8 cases). The most typical ultrastructural change is the presence of intranuclear tubular filaments. In 2 autopsied cases the central nervous system was entirely normal.