Ocular Motility Disorders Research Articles

Ocular Motility Disorders in Pathologic Myopia

Myopia describes a refractive condition of the eye in which light rays are focused in front of the retina and is typically associated with axial elongation. The prevalence of myopia ranges from 0.8% to 75% in various population surveys. It has the highest prevalence in Asian populations. Myopia is associated with an increased risk of cataracts, glaucoma, macular degeneration, choroidal neovascularization, peripheral retinal degeneration and retinal detachment. Myopia may also be associated with abnormal ocular mobility. Strabismus associated with myopia can present in a variety of ways. In this review article, we will discuss the issues related to ocular motility disorders in pathologic myopic patients known as myopic strabismus fixus.

Duane retraction syndrome type 1 with nonsyndromic retinitis pigmentosa – A rare atypical association

Duane Retraction Syndrome (DRS) is a rare congenital disorder of ocular motility typically characterized by a triad of variable duction limitation, globe retraction, and palpebral fissure narrowing on adduction. It is associated with various ocular and nonocular anomalies. We report a case of a 7-year-old boy with a rare association of unilateral type 1 DRS and retinitis pigmentosa. Retinal dystrophies are rarely associated with DRS, and the nature of the relationship between them remains unclear. However, this case report emphasizes the need for close monitoring and long-term follow-up of patients with DRS for retinal dystrophies.

Case report on interesting cases of congenital ocular motor apraxia

Congenital ocular motor apraxia (COMA) is an uncommon disorder of ocular motility characterized by inability to initiate voluntary horizontal saccades with associated head thrusts during horizontal fixation shifts. In addition, when ocular movements typical of COMA are observed, detailed systemic and neurologic examination should be performed to rule out any associated congenital neurologic or metabolic disorder. We report two cases of COMA, a 14-year-old male with diminution of vision, esotropia, and his face turned to the right without any systemic disease, and a 9-year-old male with esotropia, no face turn, acute lymphocytic leukemia, and isolated complete agenesis of the corpus callosum. Both cases had abnormal saccadic initiation for horizontal gaze with head thrusts to take fixation. Both cases underwent Medial rectus (MR) recession, which improved face turn and strabismus, respectively.

Efficacy of Nasal Septal Complex in the Endoscopic Reconstruction of Medial Orbital Wall.

The aim of this study is to investigate the efficacy of nasal septal complex reconstructing the medial orbital wall under some specific circumstances. The authors performed a study that included 10 patients who underwent isolated medial orbital wall fracture (blow-out fracture). All the reconstruction surgery of the patient included in this study fixed defect of medial orbital wall using autologous nasal septal complex (composed of nasal septal cartilage and perpendicular plate of ethmoid). The authors observed postoperative improvements of diplopia or ocular motility disorders of the affected orbit. The surgeries had gained satisfactory results, and without severe postoperative complications. After long-term follow-up, postoperative CT indicated the implant-covered defect of medial orbital wall, and there's no incarceration of the medial rectus. Meanwhile, the authors found there is no crack in the implant, and the surgery using nasal septal complex achieved premorbid orbital form. Autologous nasal septal complex provides a better complement to endoscopic reconstruction of medial orbital wall; this strategy allows nasal septum to reconstruct isolated medial orbital wall defects of various degrees, such as nasal septum fracture and dysplasia of perpendicular plate of ethmoid.

Outcomes of inferior oblique muscle myectomy with tucking into Tenon’s capsule, cohort prospective study

ABSTRACT Background: Inferior oblique muscle overaction (IOOA) is a prevalent ocular muscle motility disorder. This study aimed to investigate the outcomes and impact of IO muscle myectomy with and without tucking the proximal end of the muscle into Tenon’s capsule in two surgical groups as a treatment for IOOA. Methods: Randomized cohort study that involves two surgical groups. A total of 33 patients (55 eyes). Patients were randomly divided into two groups: first group underwent myectomy without tucking the proximal end of the muscle, whereas the second group underwent myectomy with tucking of the proximal end of the muscle. Each patient had four visits. During each visit, each patient had a comprehensive ophthalmic examination. Surgical success was defined as IOOA grade range of 0 to + 1 and correction of hypertropia in primary gaze. Results: The median age was 6 years. Sixteen (48.5%) patients underwent IO muscle myectomy with tucking, while 17 (51.5%) had an IO myectomy without tucking. Both the tucking and without tucking groups showed reductions in the angles of deviations, but there was no significant difference between the groups at baseline or postoperatively at 6 months. The success rate was 92.85% for the tucking group and 92.59% for the without tucking group. Conclusion: The study suggests that both surgical techniques are effective in correcting IOOA and associated HT, without any clear benefits of the addition of tucking. Ultimately, the two surgical techniques are equally effective, and the choice of surgical technique remains a personal preference of the surgeon.

Traumatic superior oblique tendon rupture with ptosis: A case report

The traumatic rupture of the superior oblique tendon with ptosis is extremely rare, and the surgical treatment is very challenging. We reported a case of a 41-year-old man with superior oblique tendon rupture and ptosis due to an iron hook injury. The ocular movement disorders were not obvious except for mild superior oblique underaction but were accompanied by severe extorsion. The distal stump of the superior oblique tendon was shortened and anchored to the periosteum of the supra-nasal orbital margin near the trochlea. Post-operative follow-up revealed the surgical outcome was better than expected, which resulted in significant improvement in binocularity and cosmetic outcomes without complication in the present case. The exploration of the levator palpebral superioris (LPS) in the early post-traumatic stage might not be necessary in circumstances without eyelid laceration. Shortening and anchoring of the ruptured superior tendon could restore almost normal binocularity, decrease the extorsion, and avoid acquired Brown syndrome.

A protocol to quantify cross-sectional and longitudinal differences in duction patterns.

Currently, there is no established system for quantifying patterns of ocular ductions. This poses challenges in tracking the onset and evolution of ocular motility disorders, as current clinical methodologies rely on subjective observations of individual movements. We propose a protocol that integrates image processing, a statistical framework of summary indices, and criteria for evaluating both cross-sectional and longitudinal differences in ductions to address this methodological gap. We demonstrate that our protocol reliably transforms objective estimates of ocular rotations into normative patterns of total movement area and movement symmetry. This is a critical step towards clinical application in which our protocol could first diagnose and then track the progression and resolution of ocular motility disorders over time.

Evaluation of sensitivity and specificity of the slit-light method in the diagnosis of cyclotorsion.

The purpose of this study was to evaluate the amount of sensitivity and specificity of the slit-light (SL) method in the diagnosis of ocular cyclotorsion. One hundred and twenty eyes of 60 individuals (10-60 years old), with mean visual acuity of 0.08 ± 0.14 LogMAR, were divided into two groups (normal and torsion groups). Individuals without ocular motility disorder were selected as normal and patients with extraocular motility disorders and oblique muscle dysfunctions as the torsion group. The sensitivity and specificity of SL in the diagnosis of ocular torsion were measured by masked investigators and compared to fundus photography (FP). Inter- and intraobserver variability of these techniques was also determined. The amounts of sensitivity and specificity of SL, measured by the first examiner, were 60% and 92% for intorsion and 50% and 96% for extorsion assessment, respectively. These amounts were 53% and 95% for intorsion, and 54% and 97% for extorsion by the second examiner. The contingency coefficient between the two examiners was 68.6% for SL. This amount was 61% between FP and SL for the first examiner and 63% for the second. The contingency coefficient for the repeatability of SL was 72.2% for the first examiner and 75.7% for the second. This amount was 71.2% between the two examiners. SL can be considered a useful method for the diagnosis of cyclotorsion.

Neurological disorders associated with patent foramen ovale

The foramen ovale between the right and left atria remains open in 15–25% of people over 18 years of age and in most of them it does not manifest itself clinically. At the same time, the defect is associated with a number of diseases and conditions: the development of atrial fibrillation, worsening the degree of hypoxemia in patients with pulmonary diseases, etc. There are studies devoted to the influence of a patent foramen ovale on the occurrence and course of cryptogenic stroke, migraine, syncope, dizziness, transient global amnesia, visual impairment and ocular movement disorders. However, the actual contribution of patent foramen ovale to the development of neurological disorders remains a matter of debate. The purpose of this work was to assess the significance of a patent foramen ovale in the development of neurological disorders in adults and children by analyzing literature data for the period from 2012 to 2022. In the process of studying the literature, a high prevalence of the defect was identified among patients with stroke and migraine (especially migraine with aura). At the same time, data from randomized clinical trials in patients with stroke and migraine showed selectively high effectiveness of closure of the patent foramen ovale in certain groups of patients. The association of patent foramen ovale with transient global amnesia, syncope, and dizziness has been confirmed in a limited number of studies. Cases of visual impairment and ocular movement disorders associated with the presence of a patent foramen ovale have been described. Thus, it was concluded that a patent foramen ovale is a risk factor for the development of neurological disorders only in certain groups of patients with stroke and migraine. The connection between the defect and the development of transient global amnesia, syncope, dizziness, visual impairment, as well as the development of neurological pathology in children requires further research.

Clinical features of double seronegative ocular myasthenia gravis.

To clarify the clinical features of patients with Double seronegative (DS) ocular myasthenia gravis (OMG). Sixty-one patients diagnosed with DS OMG at the Department of Ophthalmology, Hyogo Medical University Hospital over a 5-year period from 2017 were included. Patients were classified into three groups based on the initial examination findings: group P (ptosis alone), group M (ocular motility disorder alone), and group PM (combination of both). We retrospectively reviewed the patients and clarified their clinical features. There were 32 males and 29 females, with a mean age of 49.8 ± 20.9:1-82years. Twenty-one patients (34.4%) were in group P, 23 (37.7%) in group M, and 17 (27.8%) in group PM. The proportion of males (73.9%) was significantly higher in group M compared with the other two groups. The diagnosis was proven by detection of neuromuscular junction (NMJ) disorder in 73.8%, oral pyridostigmine trial test in 13.1%, and eight patients (13.1%) in group M were diagnosed after surgical treatment. The clinical symptoms were resolved by oral pyridostigmine treatment in 54.1% of cases. About 30% of patients with DS OMG had no obvious NMJ disorder, and an oral pyridostigmine trial test was necessary to diagnose these patients. Although DS OMG is often considered as the mildest form of MG, its prognosis is not optimistic and it requires aggressive therapeutic intervention. Trial registration number: 202104-750, "2016/4/18," retrospectively registered.

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.

Ocular Movement Disorder after Scleral Buckling Surgery in Patients with Retinal Detachment

Ocular Movement Disorder after Scleral Buckling Surgery in Patients with Retinal Detachment

POSTOPERATIVE COMPLICATIONS OF ORBITAL TUMOR REMOVAL IN SARDJITO GENERAL HOSPITAL

Abstract
 Introduction & Objectives : Orbital tumor removal surgery represent a small but significant portion of ophthalmologic surgery, and few reports of the associated complications are available. The aim of this study is to report the complications of orbital tumor removal surgery in Sardjito General Hospital, Yogyakarta.
 Methods : Descriptive retrospective study was carried out 138 patients who undergone orbital tumor removal surgery during July 2021-March 2023. Surgery approach and postoperative complications were collected from medical record.
 Results : Of approximately 138 patients, 12 (8%) patients had postoperative complications. Five (5%) of 75 patients who undergone anterior orbitotomy had postoperative complications. One percent had lagophthalmos, 1% had ptosis, 2% had decreased vision, and 1% had ocular movement disorders. Lateral orbitotomy was done in 21 patients. Three (12%) patients had postoperative complications. Four percent had ptosis, 4% had decreased vision, and 4% had ocular movement disorders. Four (60%) of 6 patients who undergone medial orbitotomy had ptosis (16%) and decreased vision (50%). Posterior orbitotomy was done in 8 patients. One (12,5%) patient had complication of ptosis.
 Conclusion : Anterior orbitotomy was the most common surgery approach for orbital tumor removal. The most common postoperative complications were ptosis and decreased vision. Informed consent is an important aspect to improve patient’s knowledge of postoperative complications.

POSTOPERATIVE COMPLICATIONS OF ORBITAL TUMOR REMOVAL SURGERY IN SARDJITO GENERAL HOSPITAL

Introduction: Orbital tumor removal surgery represent a small but significant portion of ophthalmologic surgery, and few reports of the associated complications are available. Methods: Descriptive retrospective study was carried out 138 patients who undergone orbital tumor removal surgery during July 2021-March 2023. Surgery approach and postoperative complications were collected from medical record. Results: Of approximately 138 patients, 12 (6%) patients had postoperative complications. Five (5%) of 75 patients who undergone anterior orbitotomy had postoperative complications. One percent had lagophthalmos, 1% had ptosis, 2% had decreased vision, and 1% had ocular movement disorders. Lateral orbitotomy was done in 21 patients. Three (12%) patients had postoperative complications. Four percent had ptosis, 4% had decreased vision, and 4% had ocular movement disorders. Four (60%) of 6 patients who undergone medial orbitotomy had ptosis (16%) and decreased vision (50%). Posterior orbitotomy was done in 8 patients. One (12,5%) patient had complication of ptosis. Conclusion: Anterior orbitotomy was the most common surgery approach for orbital tumor removal. The most common postoperative complications were ptosis and decreased vision. Informed consent is an important aspect to improve patient’s knowledge of postoperative complications.

Alteration Ocular Motility in Retinitis Pigmentosa: Case-Control Study.

To evaluate ocular motility (OM) disorders and strabismus in a sample of patients with retinitis pigmentosa (RP) and a control sample. In this cross-sectional retrospective analysis, we studied a sample of RP patients with a mean age of 48.74 years and an average visual acuity of 7/10 based on Snellen optotype and a sample of control patients with similar mean age (49 years [men], 47 years [women]) and sex and an average visual acuity of 9.9/10, with the aim of assessing correlations between alteration of OM and strabismus in RP patients based on age, high refractive defect, or severely impaired binocular vision. The examination followed a protocol of testing for anamnesis and best-corrected visual acuity, as well as a complete eye examination, corneal reflex, cover test, OM, Hess screen, and Lang test. At the first orthoptic evaluation, 45.16% of patients showed strabismus, 41.93% exotropia (25% of cases intermittent), 3.22% esotropia, and 6.45% vertical deviation. Later evaluation showed strabismus in 25.80% of patients, exotropia in 19.35% (9.67% intermittent), esotropia in 3.22%, and vertical deviation in 3.22%. Assessment of eye motility study showed 51.6% overaction of the inferior oblique and hypofunction of the superior rectus, and 18% overaction of the lateral rectus and hypofunction of the medial rectus. According to our results, alterations in OM and strabismus in RP patients are not correlated with age or high refractive defect. Therefore, motility disorders and strabismus are attributed to a genetic factor to which men are more susceptible. The incidence of OM disorder was 77.42%, and strabismus was present in 45.16% of patients.

Ocular toxicity associated with anti-HER2 agents in breast cancer: A pharmacovigilance analysis using the FAERS database.

Anti-human epidermal growth factor receptor 2 (HER2) agents have exhibited pronounced tumor-inhibitory activity, yet the accompanying ocular toxicity has frequently been underestimated. We aim to conduct a comprehensive comparative analysis of ocular toxicity risk related to various anti-HER2 agents. We executed a retrospective pharmacovigilance investigation based on the FDA Adverse Event Reporting System (FAERS) database, covering the period from Q2 2018 to Q1 2023. The disproportionality analysis was performed to assess ocular toxicity risk. Multivariate logistic regression was implemented to mitigate potential biases. Moreover, the time to onset of ocular toxicity was also evaluated. A total of 3467 ocular adverse event (AE) reports concerning anti-HER2 agents were collected. At the preferred term (PT) level, there were 69 positive signals, among which excessive eye blinking, abnormal sensation in the eye, and asthenopia presented a significant risk. In comparison to tyrosine kinase inhibitors (TKIs), antibody drugs were associated with a broader range of ocular disorders at Standardized MedDRA Queries (SMQ)levels, including conjunctival disorders, corneal disorders, ocular infections, ocular motility disorders, optic nerve disorders, and retinal disorders. In terms of onset time, pertuzumab displayed an earlier onset at 21.5 days, while trastuzumab deruxtecan had the latest at 91.5 days. In summary, our study reveals varying degrees of ocular toxicity related to anti-HER2 agents, with a significantly higher risk observed in antibody drugs. Additionally, novel ocular toxicity signals, not documented in product labels, have been detected. In the future, further research will be necessary to validate our findings.

GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review.

Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through the blood-brain barrier (BBB) due to mutation involving the GLUT-1 transporter. The fundamental therapy is ketogenic diet (KD) that provide an alternative energetic substrate - ketone bodies that across the BBB via MCT-1 - for the brain. Symptoms are various and include intractable seizure, acquired microcephalia, abnormal ocular movement, movement disorder, and neurodevelopment delay secondary to an energetic crisis for persistent neuroglycopenia. KD is extremely effective in controlling epileptic seizures and has a positive impact on movement disorders and cognitive impairment. Cases of KD resistance are rare, and only a few of them are reported in the literature, all regarding seizure. Our study describes a peculiar case of GLUT-1DS due to a new deletion involving the first codon of SLC2A1 gene determining a loss of function with a resistance to KD admitted to hospital due to intractable episodes of dystonia. This patient presented a worsening of symptomatology at higher ketonemia values but without hyperketosis and showed a complete resolution of symptomatology while maintaining low ketonemia values. Our study proposes an in-silico genomic and proteomic analysis aimed at explaining the atypical response to KD exhibited by our patient. In this way, we propose a new clinical and research approach based on precision medicine and molecular modelling to be applied to patients with GLUT-1DS resistant to first-line treatment with ketogenic diet by in silico study of genetic and altered protein product.

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome

ABSTRACT Purpose This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases. Methods Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology. Results The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia. (NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C) Conclusions A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.

Ocular Movement Disorder after Scleral Buckling Surgery in Patients with Retinal Detachment

Purpose: Binocular diplopia is a primary complication that may arise after scleral buckling surgery in patients with rhegmatogenous retinal detachment. This study examined the incidence of and risk factors for binocular diplopia after scleral buckling surgery; it also evaluated the rate of strabismus surgery success in patients with diplopia.Methods: Medical records of 417 patients who underwent scleral buckling surgery for rhegmatogenous retinal detachment at a single institution from January 2017 to June 2022 were retrospectively reviewed. Patients who experienced binocular diplopia for > 6 months were included in the diplopia group.Results: After surgery, 22 patients (5.3%) developed binocular diplopia. There were no significant correlations of diplopia onset with buckle position (i.e., the affected muscle), cryophotocoagulation, subretinal fluid drainage, and the use of gas or oil injections. Prism therapy restored binocular single vision in three patients. Ten patients chose to undergo strabismus surgery, and one patient underwent encircling band removal. All strabismus surgery patients displayed adhesion between the buckle and extraocular muscle. After surgery, 60% of these patients regained binocular single vision.Conclusions: Clear risk factors leading to ocular movement disorders and diplopia after scleral buckling remain undefined. If diplopia persists despite prism-based conservative treatment, strabismus surgery may offer relief.

An Eosinophilic Variant of Orbital Granulomatosis with Polyangiitis with Ocular Motility Disorder

Purpose: To present the case of a patient with localized orbital granulomatosis with polyangiitis (GPA) characterized by a significant ocular motility disorder, increased eosinophilia, and hyper-immunoglobulin E (hyper-IgE).Case Summary: A 61-year-old male, with no previous history of allergy, atopy, asthma, sinonasal disease, respiratory disease, or renal disease, came to our hospital due to a 2-day history of binocular diplopia. His left eye exhibited inward and upward deviation, along with gaze limitation. His vision was 20/20 in both eyes, and the pupillary light reflex and color test were normal. He had severe eyelid swelling and conjunctival injection without tenderness in his left eye, and retinal vessel congestion around the optic nerve, without proptosis. Laboratory tests revealed a positive cytoplasmic antineutrophil cytoplasmic antibody (cANCA), a normal WBC count, elevated eosinophils at 28.3% (2,462/mm<sup>3</sup>), and high serum levels of IgE (400 KU/L). Magnetic resonance imaging showed an inferolateral orbital mass with an enlarged lacrimal gland and myositis of the extraocular muscles. A biopsy of the lacrimal gland revealed nonspecific chronic inflammation with an eosinophilic infiltrate. The presence of cANCA, in combination with clinical and pathological findings, led to the diagnosis of an eosinophilic variant of localized orbital GPA. This variant was primarily confined to the orbital tissue, marked by elevated eosinophil and IgE levels, and was treated with oral steroids without requiring surgery for the ocular motility disorder.Conclusions: GPA may present as acute strabismus with orbital inflammation, even in the absence of systemic signs. Therefore, it should be considered in the differential diagnosis of unexplained acute orbital syndromes.