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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.

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., Competing Interests: The authors have no financial conflicts of interest., (© Copyright: Yonsei University College of Medicine 2018.)

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., (© International Headache Society 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

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.

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.

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 (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 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.

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.

In 270 patients with superior oblique paralyses treated between 1973 and 1984, congenital and traumatic causes were most frequent, and one fourth of all traumatic cases had bilateral involvement. Among the diagnostic features distinguishing bilateral from unilateral paralysis were a right hypertropia in left gaze and left hypertropia in right gaze, and a positive Bielschowsky test on tilting the head toward either shoulder. However, absence of either sign did not exclude bilateral paralysis. Large excyclotropia and a V-pattern esotropia are suggestive of but not diagnostic for bilateral paralysis. Complaints about cyclotropia are limited to acquired paralysis. Cyclotropia in the normal eye, head tilt toward the involved side, or absence of any abnormal head posture limits the diagnostic value of these associated signs. Overshoot of the contralateral superior oblique occurred in 19% of the patients and is thought to be caused by contracture of the ipsilateral superior rectus muscle. Surgical treatment in 112 patients resulted in an 85% cure rate with an average of 1.45 operations per patient.

Two cases of ophthalmoplegia ataxia and areflexia are described, each with undoubted central and peripheral neural affection. It is concluded that the cardinal features are due to brainstem pathology, and support the hypothesis that this syndrome and the post-infectious polyradiculoneuritides represent differing ends of a spectrum which reflects two modes of nervous system reaction to a presumed infective challenge.

A review of 130 cases of superior oblique palsy suggests that simple office procedures are sufficient to establish the diagnosis. Prism and cover test measurements with alternate eyes fixing in the nine diagnostic positions of gaze proved to be the greatest help in classifying these cases with regard to surgical planning.

The classification of reduction in ability to earn a livelihood in cases of traumatical disturbances of ocular motility is still mainly based on antiquated values which no longer do justice to the real sensomotor situations. Today new diagnostic methods, most of them developed by Cüppers, give a better and more certain base as to the objectivation of the disturbances and the subjective troubles of the subjet. Moreover, new operative indications and techniques can cure them. Four cases are demonstrated as examples for an equivalent and adequate classification.

The authors report one case of Graves' ophthalmopathy with a palpebral asymmetry, which was characterized by a left ptosis and a right palpebral retraction. In connection with Graves' disease, many ocular signs were described, including exophthalmos, ophthalmoplegia, palpebral retraction and visual loss, but unilateral ptosis was rarely reported. The orbital CT-scanning demonstrated the bilateral enlargement of the extraocular muscles, due to the infiltrative process met in Graves' disease. The ptosis and the palpebral retraction were suspected to be related to the extension of this infiltrative process in the levator palpebrae.

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.

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.

A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed "ragged-red" fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.

Sixty-three patients with third cranial nerve palsies (CNPs), either isolated (31) or in association with other neurologic deficits (32), underwent neuroophthalmologic and neuroradiologic evaluation. Discrepancies between the clinical and radiologic evaluations were analyzed and useful clinical presenting symptoms were identified. Microvascular infarction secondary to diabetes mellitus and/or hypertension was the most common cause in patients with isolated third CNP, and extensive neuroradiologic evaluation is not indicated in this subgroup. The overall diagnostic yield of high-resolution CT for isolated third CNPs was low (30%), but improved to 60% if diabetes and hypertension were excluded. However, CT was highly sensitive (90%) in those patients with third CNPs associated with additional neurologic deficits. The status of the pupil in and of itself cannot be the sole determinant as to whether angiography is indicated to exclude an aneurysm. Careful ophthalmologic observation and relating the severity of pupillomotor dysfunction to extraocular ophthalmoplegia is mandatory to determine the logical sequence of radiologic evaluation. Retroorbital pain taken in isolation is a nonspecific presenting symptom and has differential diagnostic value only if it is correlated temporally with the onset of third CNP and the presence or absence of additional cranial nerve deficits.