Accuracy of Repetitive Ocular Vestibular-Evoked Myogenic Potentials to Diagnose Myasthenia Gravis in Patients With Ptosis or Diplopia.

BACKGROUND AND OBJECTIVES: We developed repetitive ocular vestibular-evoked myogenic potentials (roVEMP) as an electrophysiologic test that allows us to elicit the characteristic decrement of extraocular muscles in patients with ocular myasthenia gravis (OMG). Case-control studies demonstrated that roVEMP reliably differentiates patients with OMG from healthy controls. We now aimed to evaluate the diagnostic accuracy of roVEMP for OMG diagnosis in patients with ptosis and/or diplopia. METHODS: In this blinded prospective diagnostic accuracy trial, we compared roVEMP in 89 consecutive patients presenting with ptosis and/or diplopia suspicious of OMG with a multimodal diagnostic approach, including clinical examination, antibodies, edrophonium testing, repetitive nerve stimulation of accessory and facial nerves, and single-fiber EMG (SFEMG). We calculated the roVEMP decrement as the ratio between the mean of the first 2 responses compared with the mean of the sixth-ninth responses in the train and used cutoff of >9% (unilateral decrement) in a 30 Hz stimulation paradigm. RESULTS: Following a complete diagnostic work-up, 39 patients (44%) were diagnosed with ocular MG, while 50 patients (56%) had various other neuro-ophthalmologic conditions, but not MG (non-MG). roVEMP yielded 88.2% sensitivity, 30.2% specificity, 50% positive predictive value (PPV), and 76.5% negative predictive value (NPV). For comparison, SFEMG resulted in 75% sensitivity, 56% specificity, 55.1% PPV, and 75.7% NPV. All other diagnostic tests (except for the ice pack test) also yielded significantly higher positive results in patients with MG compared with non-MG. DISCUSSION: The study revealed a high sensitivity of 88.2% for roVEMP in OMG, but specificity and PPV were too low to allow for the OMG diagnosis as a single test. Thus, differentiating ocular MG from other neuro-ophthalmologic conditions remains challenging, and the highest diagnostic accuracy is still obtained by a multimodal approach. In this study, roVEMP can complement the diagnostic armamentarium for the diagnosis of MG. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patients with diplopia and ptosis, roVEMP alone does not accurately distinguish MG from non-MG disorders. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov: NCT03049956.

Differential diagnosis of thyroid orbitopathy - diseases mimicking the presentation or activity of thyroid orbitopathy.

Thyroid orbitopathy (TO) is the most common cause of orbital tissue inflammation, accounting for about 60% of all orbital inflammations. The inflammatory activity and severity of TO should be diagnosed based on personal experience and according to standard diagnostic criteria. Magnetic resonance imaging (MRI) of the orbit is used not only to identify swelling and to differentiate inflammatory active from non-active TO, but also to exclude other pathologies, such as orbital tumours or vascular lesions. However, a group of diseases can mimic the clinical manifestations of TO, leading to serious diagnostic difficulties, especially when the patient has previously been diagnosed with a thyroid disorder. Diagnostic problems can be presented by cases of unilateral TO, unilateral or bilateral TO in patients with no previous or concomitant symptoms of thyroid disorders, lack of symptoms of eyelid retraction, divergent strabismus, diplopia as the only symptom of the disease, and history of increasing diplopia at the end of the day. The lack of visible efficacy of ongoing immunosuppressive treatment should also raise caution and lead to a differential diagnosis of TO. Differential diagnosis of TO and evaluation of its activity includes conditions leading to redness and/or swelling of the conjunctiva and/or eyelids, and other causes of ocular motility disorders and eye-setting disorders. In this paper, the authors review the most common diseases that can mimic TO or falsify the assessment of inflammatory activity of TO.

Isolated Ophthalmoplegia After Periorbital Hyaluronic Acid Filler Injection.

Facial filler injections are the second most commonly performed in-office cosmetic procedure. Vision loss is the most feared complication of hyaluronic acid (HA) filler injection, but isolated ophthalmoplegia can also occur. We report the case of a 45-year-old woman who developed nausea and diplopia following HA filler injection to the bilateral periorbital region. She presented with a left hypertropia and left-sided motility deficit without vision involvement. MRI of the orbits demonstrated mild enhancement and enlargement of the left inferior rectus and inferior oblique muscles. Treatment consisted of hyaluronidase injection and oral steroids. HA filler can cause isolated ocular misalignment and diplopia without associated vision loss. Patients should be counseled on these risks before undergoing soft tissue augmentation of the face with HA filler.

Orbital myositis in a patient with Crohn's disease: A case report of two episodes.

PURPOSE: To describe a case report of a 34 years-old patient with Crohn's Disease and two episodes of Ocular Myositis. METHODS: The research methodology employed in this study consisted of a retrospective review of the patient's complete medical history. RESULTS: Crohn's Disease is a chronic inflammatory bowel disorder known to be associated with a wide range of extraintestinal manifestations. Ocular abnormalities, such as episcleritis and uveitis, are commonly observed. However, orbital myositis is an extremely rare ocular extraintestinal manifestations characterized by acute ocular pain that worsens with eye movements and is often accompanied by diplopia. In this case report, we present the case of a 34-year-old woman with a confirmed diagnosis of Crohn's Disease, who experienced two episodes of acute orbital pain exacerbated by ocular movements and diplopia. The diagnosis was established through clinical evaluation and radiologic imaging, with confirmation after a good response to systemic corticosteroids. She responded favorably to systemic corticosteroid therapy on both episodes, and no additional treatment was required. As of now, she remains stable without any ocular sequelae. CONCLUSION: It is important to note that orbital myositis is an uncommon ocular manifestation associated with Crohn's Disease, and prompt recognition and management are crucial to achieve successful outcomes.

A case of bilateral amyloidosis localized to extraocular muscles mimicking thyroid eye disease.

BACKGROUND: Amyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic amyloidosis has been well-documented, amyloid deposition in extraocular muscles is an exceptionally rare occurrence, with only 35 reported cases. This case report sheds light on the importance of considering amyloidosis in the differential diagnosis of patients presenting with proptosis and diplopia, which are often associated with thyroid eye disease. CASE PRESENTATION: A woman in her twenties sought medical attention due to a complaint of diplopia. Her ocular examination revealed almost normal findings except for exotropia and proptosis. Orbital magnetic resonance imaging displayed fusiform enlargement of nearly all eye muscles, a presentation typically observed in thyroid eye disease. However, despite corticosteroid therapy, her symptoms showed no improvement. Given the unusual lack of response to conventional treatment, and inhomogeneous enhancement of the muscle, an extraocular muscle biopsy was conducted. This biopsy yielded a unique finding-amyloid deposition within the muscle tissue. This discovery was particularly intriguing due to the extreme rarity of amyloidosis affecting extraocular muscles, with fewer than three dozen documented cases worldwide. CONCLUSION: This unique case underscores the critical need for a comprehensive approach to diagnosing patients with proptosis and diplopia. While these symptoms are commonly attributed to thyroid eye disease, it is essential to consider alternative diagnoses such as amyloidosis, especially when standard treatments fail to yield results. The discovery of amyloid deposition in the extraocular muscles, although exceedingly rare, emphasizes the significance of a thorough differential diagnosis. In conclusion, this case report highlights the importance of vigilance in clinical practice, encouraging ophthalmologists to explore less common diagnostic possibilities when faced with challenging cases. Further research and clinical investigation are warranted to better understand the mechanisms and potential treatments for amyloidosis affecting the extraocular muscles.

Postoperative outcomes for unilateral congenital trochlear nerve palsy: A retrospective cohort study.

PURPOSE: Congenital trochlear nerve palsy is the most common cause of vertical strabismus. The goal of this study was to investigate surgical outcomes after superior oblique tendon plication with or without inferior oblique recession in children and adults with unilateral congenital trochlear nerve palsy. METHODS: Data and outcomes were collected in patients with a diagnosis of unilateral congenital superior oblique palsy during a retrospective single-center study conducted at the University Hospital of Tours. A reproducible, standard ophthalmological and oculomotor examination was performed pre- and postoperatively at 1 year, including presence or absence of diplopia, vertical and horizontal deviations, and compensatory head posture. Surgical success, defined as an endpoint including absence of diplopia in primary position, absence of head tilt, and vertical deviation at distance fixation<5 prism diopters (PD), was analyzed. RESULTS: A total of fifty-seven patients (median [IQR] age of 11 years [5-42]) were analyzed. Patients experienced a significant reduction in vertical distance and near deviations (p<0.001), compensatory head tilt (p < 0.001), and diplopia after surgery (p < 0.001). Surgical success was higher in adults (17/24, 70.8%) than in children (15/33, 45.5%), although this did not reach statistical significance (p=0.0657). CONCLUSION: This study suggests that plication of the superior oblique muscle tendon, with or without recession of the inferior oblique muscle, can be effective in treating unilateral congenital trochlear nerve palsy. Further studies are necessary to compare surgical procedures and investigate their efficacy in adults compared to children in the short and long term.

First Intraoperative Trochlea Reconstruction.

Traumatic detachment of the superior oblique muscle from the trochlea is very rare. The authors present a case of cyclovertical diplopia in downgaze due to traumatic trochlear damage where they performed surgery more than 40 years later. For the first time ever, they describe the reconstruction of the trochlea using a silicone tube, thereby regaining superior oblique muscle function.

Characteristics and Prognosis of Binocular Diplopia in Patients With Giant Cell Arteritis.

BACKGROUND: Giant cell arteritis (GCA) is a large vessel vasculitis associated with a risk of permanent ophthalmologic complications. Data about diplopia prognosis in GCA are scarce. This study was designed to better characterize diplopia in newly diagnosed GCA patients. METHODS: All consecutive patients diagnosed with GCA from January 2015 to April 2021 in a French tertiary ophthalmologic center were retrospectively reviewed. GCA diagnosis relied on a positive temporal artery biopsy or high-definition MRI. RESULTS: Among 111 patients diagnosed with GCA, 30 patients (27%) had diplopia. Characteristics of patients with diplopia were similar to other GCA patients. Diplopia resolved spontaneously in 6 patients (20%). Diplopia was attributed to cranial nerve palsy in 21/24 patients (88%), especially third (46%) and sixth cranial nerve (42%). Ocular ischemic lesions occurred in 11 of the 30 patients with diplopia (37%); 2 patients developed vision loss after initiation of corticosteroids. In the remaining 13 patients, diplopia resolved after treatment onset in 12 patients (92%) with a median delay of 10 days. Patients treated intravenously tended to have a quicker improvement than those treated orally, but with a similar resolution rate of diplopia at 1 month. Two patients had relapse of diplopia at 4 and 6 weeks after an initial treatment course of 24 and 18 months, respectively. CONCLUSIONS: Diplopia is a rare feature at GCA diagnosis, but should raise clinician suspicion for GCA when associated with cephalic symptoms and prompt the initiation of corticosteroids to prevent ocular ischemic complications.

Diagnostic pitfalls in pediatric orbital entrapment fractures.

Prompt diagnosis and management of orbital entrapment fractures in the pediatric patient have been advocated. This retrospective study analyzed a cohort of orbital entrapment fractures in pediatric patients with regard to diagnostic pitfalls, treatment and outcomes in a Level I trauma center in Germany. Based on medical records and radiological imaging, patients under the age of 18 years who presented with orbital fractures during 2009-2021 were analyzed. Overall, 125 patients presented with orbital fractures, of whom 29 patients (23.2%) had orbital entrapment fractures. The majority of patients presented with monocle hematoma (n = 23), diplopia (n = 20), and/or restricted extraocular eye movement (n = 14). While all patients with orbital entrapment fractures underwent three-dimensional imaging, 10 radiological reports (34.5%) did not include findings on orbital entrapment fractures. All patients underwent surgical exploration in less than 24 h. In 12 patients, clinical symptoms such as diplopia and restricted ocular elevation were documented upon postoperative evaluation before discharge. Considering the significant proportion of orbital entrapment fractures that are not noted on radiological imaging, prompt clinical examination should be initiated in pediatric patients at risk for orbital fractures. Urgent surgical intervention should be recommended in entrapment fractures.

Traumatic rupture of the inferior rectus muscle: case report and review of the literature.

Traumatic inferior rectus muscle rupture secondary to blunt injury in the absence of associated orbital or ocular fractures or injury is rarely encountered, and there are limited published reports on subsequent surgical repair. We present the case of a 74-year-old man with complete inferior rectus transection following a fall with facial strike. A computed tomography scan of the face was unremarkable. Surgical exploration and repair of the muscle was performed by hooking the inferior oblique muscle to identify the inferior rectus muscle. Subsequent strabismus surgery was performed for residual binocular diplopia, resulting in excellent anatomic and visual outcomes and postoperative ocular alignment.

Case Report: Unilateral Cranial Nerve VI Palsy Secondary to Intracranial Hypotension.

SIGNIFICANCE: Intracranial hypotension is a condition that occurs from a cerebrospinal fluid leak. Various visual symptoms have been associated with this condition. Cranial nerve VI (CN VI) palsies are the most common ocular manifestation, as the abducens nerve is prone to injury because of its intracranial anatomical course. PURPOSE: This case report presents a CN VI palsy secondary to intracranial hypotension from ventriculoperitoneal shunt overfiltration. Diagnosis, treatment, and management considerations are discussed. No identifiable health information was included in this case report. CASE REPORT: A 70-year-old White man was referred to the eye clinic for evaluation of binocular horizontal diplopia. The patient had a recent history of a left ventriculoperitoneal shunt for a persistent cerebrospinal fluid leak after complex mastoid surgery. The patient was also symptomatic for positional headaches, which improved in a recumbent position. He was diagnosed with a left CN VI palsy secondary to intracranial hypotension from a ventriculoperitoneal shunt overfiltration. The patient was followed up by neurosurgery for shunt adjustments to resolve the overfiltration. Binocular horizontal diplopia was managed conservatively with Fresnel prism. CONCLUSIONS: Intracranial hypotension should be considered in patients presenting with cranial nerve palsies and positional headaches. Obtaining neuroimaging and comanaging with neurology or neurosurgery are advised to make prompt diagnosis and treatment. Careful clinical monitoring and conservative diplopia therapy are recommended as visual symptoms improve upon resolution of the cerebrospinal fluid leak.

HSV-1 Encephalitis Presenting with Diplopia: Effects of Infection or Autoimmunity?

This report describes a case in which diplopia was developed as a finding of postinfectious anti- N -methyl- d -aspartate receptor encephalitis. Infectious encephalitis, especially herpes simplex virus, is essential as it is one of the triggers of autoimmune encephalitis. Even if the cases present unexpected clinical findings, we should be vigilant in terms of autoimmune processes, such as diplopia seen in our case.

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report.

PURPOSE: The authors aim to describe the ophthalmologic manifestations of pediatric Erdheim-Chester disease (ECD). METHODS: The authors describe a novel case of ECD presenting as isolated bilateral proptosis in a child and provide a comprehensive review of the documented pediatric cases to observe overall trends and ophthalmic manifestations of disease. Twenty pediatric cases were identified in the literature. RESULTS: The mean age at presentation was 9.6 years (1.8-17 years) with a mean time of symptom presentation to diagnosis of 1.6 years (0-6 years). Nine patients (45%) had ophthalmic involvement at diagnosis, 4 who presented with ophthalmic complaints: 3 with observable proptosis and 1 with diplopia. Other ophthalmic abnormalities included eyelid findings of a maculopapular rash with central atrophy on the eyelids and bilateral xanthelasmas, neuro-ophthalmologic findings of a right hemifacial palsy accompanied by bilateral optic atrophy and diplopia, and imaging findings of orbital bone and enhancing chiasmal lesions. No intraocular involvement was described, and visual acuity was not reported in most cases. CONCLUSIONS: Ophthalmic involvement occurs in almost half of documented pediatric cases. Typically presenting with other symptoms, the case highlights that isolated exophthalmos may be the only clinical sign, and ECD should be included in the differential diagnosis of bilateral exophthalmos in children. Ophthalmologists may be the first to evaluate these patients, and a high index of suspicion and an understanding of the varied clinical, radiographic, pathologic, and molecular findings are critical for prompt diagnosis and treatment of this unusual disease.

Reduction in Extraocular Muscle Cross-sectional Area and Correlation With Extraocular Motility and Diplopia Following Teprotumumab for Thyroid Eye Disease.

PURPOSE: To quantify changes in extraocular muscle (EOM) cross-sectional areas (CSA) on orbital imaging in patients with thyroid eye disease before and after teprotumumab treatment, and assess for correlation with clinical outcomes. METHODS: This retrospective study included thyroid eye disease patients treated with teprotumumab who had pre- and post-treatment CT imaging. Reformatted oblique coronal images were created for each orbit in a plane perpendicular to the optic nerve. EOM CSA measurements were performed by 2 radiographic reviewers and averaged. Primary outcomes included change in ratio of total EOM to orbit CSA, and of each individual muscle group to orbit CSA, before and after treatment. Secondary outcomes included subanalysis based on age (≥40, <40 years) and Clinical Activity Score (CAS) (≥4, <4), and comparison with clinical outcomes including CAS, Hertel exophthalmometry, Gorman diplopia score, and extraocular motility. RESULTS: Forty-eight orbits of 24 patients (16 female, mean age 57.9 years) were included. There was a significant reduction in the total EOM to orbit CSA ratio ( p < 0.01) and for each individual rectus muscle to orbit CSA ratio ( p < 0.01 for all groups). Total EOM to orbit CSA ratios were reduced for 21 patients (87.5%); this was statistically significant in 13 patients (54.2%). There was significant improvement in CAS, proptosis, diplopia, and EOM motility ( p < 0.01 for all categories). There was a significant correlation between reduction of EOM CSA, and reduction of diplopia ( p < 0.01) and EOM motility ( p < 0.01). CONCLUSIONS: EOM CSA is significantly reduced following treatment with teprotumumab, and correlates with clinical findings including improvement in extraocular motility and diplopia.

Strabismus Surgery in Orthophoric Patients With Symptomatic, Asymmetric Vertical or Horizontal Incomitance.

PURPOSE: To report the indications, operative strategies, and surgical outcomes of patients who undergo vertical and horizontal rectus muscle surgery for incomitant strabismus despite being orthophoric in primary gaze. DESIGN: Retrospective, interventional case series. METHODS: The setting for this study was an academic practice at Boston Children's Hospital. The patient population comprised 8 orthophoric patients who underwent strabismus surgery to treat vertical/horizontal incomitance. Observation procedures included review of surgical strategies, strabismus measurements in diagnostic gaze positions, and development of postoperative diplopia. The main outcome measures were preserved single vision in primary gaze, comitance, reoperation rate, and patient/surgeon satisfaction. RESULTS: Surgical strategies included the following: (1) simultaneous recession of ipsilateral antagonist rectus muscles; (2) recession or resection of 1 rectus muscle with balancing surgery on the fellow eye; (3) restricting the range of 1 muscle (combined resection and recession or posterior fixation suture); and (4) creating an acceptable deviation in primary gaze. Mean follow-up was 5.4 months (median, 2 months; range, 2-25 months). No patient had new-onset primary gaze diplopia. The median incomitance improved by 9.5 prism diopters. No patient required additional surgery. Patient satisfaction and surgeon assessment of outcomes were high. CONCLUSIONS: Although the risk of operating on orthophoric patients with incomitant strabismus may discourage surgeons from offering treatment, the use of specific strategies to address incomitance can preserve alignment in primary gaze while improving patient satisfaction. These strategies may also benefit patients with incomitant strabismus that is symptomatic in primary gaze.

Low probability of myasthenia Gravis in patients presenting to neuro-ophthalmology clinic for evaluation of isolated ptosis.

BACKGROUND: Concerning causes of ptosis, most notably third nerve palsy and Horner's syndrome, can be ruled out with normal ocular motility and pupillary examination. Myasthenia gravis (MG) however, rarely can present with ptosis as an isolated finding. We reviewed all patients presenting to tertiary neuro-ophthalmology practice with ptosis of unknown etiology to determine the frequency of MG. METHODS: Retrospective chart review of patients referred to a tertiary neuro-ophthalmology practice with undifferentiated ptosis. RESULTS: Sixty patients were included in the study. Twenty eight (47%) patients had ptosis along with various abnormalities of ocular motility and/or alignment and 32 (53%) had isolated unilateral ptosis defined as ptosis with absence of diplopia, or symptoms of generalized MG (GMG). Final diagnosis was aponeurotic ptosis due to levator palpebrae dehiscence in the majority (73%) of patients, while 10 (17%) were diagnosed with MG (6 with OMG, 4 with GMG). Diplopia was present in 9/10 patients with MG and 8/10 had abnormal ocular findings on clinical examination such as orbicularis oculi weakness, Cogan's lid twitch or fatiguability of ptosis on sustained upgaze. Only one patient referred for isolated unilateral ptosis was diagnosed with OMG and this patient had orbicularis oculi weakness. CONCLUSIONS: None of the patients with isolated unilateral ptosis and otherwise normal examination had MG. All patients eventually diagnosed with MG had diplopia or orbicularis weakness on examination. Thus, the yield of investigating patients with isolated ptosis for MG is exceedingly low.

INTRACTABLE PAIN AND DIPLOPIA AFTER SCLERAL BUCKLE SURGERY.

PURPOSE: To report a case of early postoperative scleral buckle slippage because of the dehiscence of scleral belt loop tunnels. METHOD: Case report. RESULTS: A 54-year-old woman presented with painful diplopia after a combination pars plana vitrectomy and scleral buckling procedure. Ocular movements were limited. Forced duction testing was restricted in all directions. Anterior slippage of the silicone band was suggested on computed tomography (CT) scans and was confirmed with surgical exploration. During surgery, it was found that thin-roofed scleral belt loop tunnels were dehisced in three quadrants leading to anterior slippage of the buckle. The displaced buckle was removed. Diplopia and pain resolved, and ocular motility improved immediately afterward. The retina remained attached at six months follow-up. A supplemental video summarizes the surgical findings and postoperative results. CONCLUSION: Spontaneous dehiscence of scleral belt loops may occur in thinly dissected scleral tunnels. Painful eye movement, diplopia, and a positive forced duction test should raise suspicion about a displaced scleral buckle. A CT scan may help with the diagnosis. Early diagnosis and immediate surgical intervention are needed to minimize patient discomfort and to improve long-term ocular motility.