Should We Consider Routine Blood Work for Diplopia and Ptosis in a Primary Care Setting?

Myasthenia gravis (MG) is a rare disorder that most commonly presents with ocular symptoms. Despite the highly sensitive blood work that can be used to diagnose the disease, it is frequently misdiagnosed until the disease becomes systemic. Literature, however, shows that those who begin treatment with acetylcholinesterase inhibitors before systemic presentation have a better prognosis. We discuss the case of a patient who presented to the clinic with a chief complaint of diplopia that was subsequently referred to ophthalmology. It was not until lab work was done by a subspecialist that the diagnosis of MG was made. The patient quickly responded to an acetylcholinesterase inhibitor and has since had a great prognosis. Here, we are advocating for the inclusion of routine lab work in the evaluation of patients who present to the primary care setting with diplopia in the absence of red flag symptoms. This approach aids in deciphering the potential involvement of MG in diplopia or ptosis. While such symptoms justify referral to ophthalmology, logistical challenges often hinder a prompt evaluation. Early diagnosis with the incorporation of routine lab work offers the potential to expedite the diagnosis of a rare disease. In doing so, providers can improve prognosis and potentially mitigate additive medical consultations.

KDM3A knockdown regulates COMP, LOX, COL8A1 and ACOT1 genes in myocardial fibrosis.

Cardiovascular disease (CVD) is one of the main causes of death in Saudi Arabia. Cardiac remodeling plays a critical role in the pathophysiology of heart failure. Major focus of our study was to identify crucial genes involved in the pathological remodeling of the heart caused by pressure overload. We utilized various in-silico tools to analyze and interpret microarray data obtained from the Gene Expression Omnibus (GEO) database (GSE120739), including GEO2R analysis, Metascape analysis, WebGestalt analysis, and IPA (Ingenuity pathway analysis). Our findings indicate that certain genes, including Cartilage Oligomeric Matrix Protein (COMP), collagen type VIII alpha 1 chain (COL8A1) and Lysyl Oxidase (LOX) under the influence caused by knockdown of KDM3A, were down regulated by the extracellular matrix pathway. Moreover, genes, such as Acyl-CoA Thioesterase 1 (ACOT1) were up regulated by the fatty acid metabolism pathway. Overexpression of lysine-specific demethylase 3A (KDM3A) leads to the up regulation of fibrosis-related genes COMP, COL8A1, and LOX and the down regulation of ACOT1, result in enhanced fibrosis and heart failure. Our results suggest that COMP, COL8A1, LOX, and ACOT1 warrant further investigation in the development of cardiac fibrosis and as potential biomarkers for causing heart failure.

Progressively worsening ptosis in a woman: A case report.

Key Clinical Message: Filler injections into the upper eyelid may cause levator aponeurosis fibrosis and ptosis. This risk must be considered. When ptosis appears, treatment might be difficult. Understanding the upper eyelid anatomy and procedures is essential to prevent eyelid damage. Abstract: Ptosis is a prevalent condition in cosmetic surgery that occurs due to malfunction of the levator palpebrae superioris or insufficient Müller muscle action. It is characterized by the upper eyelid edge appearing lower than usual when seen at eye level. Ptosis may be categorized into congenital and acquired forms. The primary cause of congenital ptosis is attributed to abnormalities of the levator palpebrae superioris muscle or the motor nerve innervation that controls it. The condition arises from atypical development and malfunction of the oculomotor system. Acquired ptosis may be classified into many categories including traumatic, neurogenic, myogenic, senile, mechanical, and fake ptosis. Currently, there is little documentation of ptosis resulting from the degeneration of the aponeurosis of the muscle in the upper eyelid. We received a case of ptosis caused by fibrosis of the levator palpebrae superioris aponeurotic membrane. We used the technique of levator palpebrae superioris great advancement. The levator palpebrae superioris-Müller muscle was folded to create a stable composite construction via the levator palpebrae superioris high progress.

Effect of congenital ptosis on corneal topography and total aberrometry and comparison of these variables between ptotic and normal fellow eyes.

PURPOSE: To analyze the effect of congenital ptosis on corneal topography and total aberrometry and to compare these variables between ptotic and normal fellow eyes. METHODS: The study included 32 eyes of 16 patients with unilateral congenital blepharoptosis. A Shack-Hartmann wavefront sensor was employed to assess Zernike coefficients and root-mean-square. Computerized corneal topography, Orbscan and aberrometry were measured in the healthy and ptotic eyes. Data were analyzed using SPSS version 16. P<0.05 was considered significant. RESULTS: The mean patient age was 21.31±6.3 years. The mean margin to light reflex distance-1 (MRD-1) was 0.6±1.44mm in the ptotic eyes. Among topography variables, surface regularity index (SRI), cylinder power, irregular astigmatism index (IAI), and flat meridian keratometry were significantly different between ptotic and non-ptotic fellow eyes (P<0.05). Some Orbscan parameters, including simulated keratometry, maximum and minimum corneal power, and astigmatism power were significantly different between ptotic and normal fellow eyes (P<0.05). There was no statistically significant difference in total aberrometry variables between paired eyes. However, in a comparison between ptotic eyes with over 1 diopter astigmatism vs. less than 1 D, high-order Zernike modes without spherical aberration at 6mm (HOW/O Z400 6mm) were significantly different between the 2 groups (P=0.02). CONCLUSION: Unilateral congenital ptosis significantly affects corneal topography and aberrometry, especially in eyes with astigmatism≥1 D. Such differences need to be considered before keratorefractive surgery (KRS).

[Myasthenia as the cause of vertical diplopia in the elderly]. / Myasthenie als Ursache einer Vertikaldiplopie im Senium.

Myasthenia gravis is a well-understood autoimmune disease of the neuromuscular synapse that is medicinally treatable with favorable results and therefore should not be overlooked in the differential diagnostic evaluation of vertical diplopia. Myasthenia is primarily a clinical diagnosis. Positive indications include double vision of fluctuating severity, diurnal variations, double vision after lengthy gaze fixation on a distant object and in the primary position as well as diplopia in various visual directions, often associated with a varying extent of ptosis. Clinical tests are the Simpson test, the ice on eyes test and the probatory administration of pyridostigmine. Positive results corroborate this diagnosis but negative results do not exclude myasthenia. The same applies for the determination of specific autoantibodies. In addition to ocular symptoms it is important to search for generalized symptoms and bulbopharyngeal symptoms in particular should prompt immediate neurological diagnostics. In addition to symptomatic treatment a wide range of immunotherapeutic agents are available. Thymectomy is also used for immunomodulatory indications according to the 2023 revised guidelines. Patient-centered treatment goals, patient education and comprehensive information, also via the self-help organization German Myasthenia Society, are essential components of successful treatment of myasthenia.

Investigation of the differential susceptibility of extraocular muscles in patients diagnosed with ocular myasthenia gravis based on the computerized diplopia test and the Ocular Motor Nerve Palsy Scale.

Introduction: The pattern of extraocular muscle involvement in ocular myasthenia gravis varies across different reports, diverging from our own observations. Thus, we employed two novel tools to discern this pattern. Methods: A retrospective analysis was conducted to collect and organize clinical data from 43 patients diagnosed with ocular myasthenia gravis. Each patient underwent both the computerized diplopia test and the Ocular Motor Nerve Palsy Scale assessment to evaluate the involvement of extraocular muscles. Results: Among the patients, there were 30 male and 13 female individuals, with a total of 113 affected extraocular muscles identified. Among all the affected extraocular muscles, the involvement of the levator palpebrae superioris muscle accounted for 35.40%, medial rectus muscle 7.7%, lateral rectus muscle 16.81%, superior rectus muscle 13.27%, inferior rectus muscle 12.39%, superior oblique muscle 1.77%, and inferior oblique muscle 2.65% of the total affected extraocular muscles. The positivity rates of the Neostigmine test were 89.19%, AChR antibody detection was 59.38%, and repetitive nerve stimulation was 34.38%. The AChR antibody positive rate among patients with only diplopia was 100%; among those with only ptosis, it was 80%; and among those with both diplopia and ptosis, it was 86.67%. Conclusion: The involvement of the extraocular muscles is not uniform. The levator palpebrae superioris exhibits the highest incidence rate, followed by the four rectus muscles and two oblique muscles. The inferior oblique involvement typically occurs when four or more EOMs are affected. Moreover, the levator palpebrae superioris and medial rectus show a higher tendency for bilateral involvement compared with other extraocular muscles.

A Breath of Relief: Oxymetazoline and Flunisolide Nasal Spray in the Management of Myasthenia Gravis Ptosis.

The current pharmaceutical management of myasthenia gravis (MG) is widely accepted to be pyridostigmine and prednisone, both known to cause adverse effects and incur significant costs. This treatment may be particularly burdensome for patients primarily complaining of localized ocular MG, and little is known about the management of MG ptosis with topical medications. Oxymetazoline hydrochloride 0.1% ophthalmic solution has recently been approved by the FDA for the treatment of ptosis, but there have been limited studies in MG ptosis and no report to date of symptomatic improvement with the intranasal formulation. This case report discusses a 71-year-old female whose newly diagnosed MG ptosis resolved after three days of intranasal oxymetazoline hydrochloride 0.05%, followed by three days of intranasal flunisolide. Our patient's rapid resolution of symptoms, along with the favorable side effect profile and over-the-counter availability, highlights the promising indication for the use of intranasal oxymetazoline and flunisolide as potential alternatives or adjuncts in MG management. Further research in larger cohorts is necessary to confirm the efficacy of these nasal sprays in treating MG ptosis.

[Pediatric myasthenia with ocular involvement]. / Myasthénie chez l'enfant avec atteinte oculaire.

PURPOSE: Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists. METHODS: Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included. RESULTS: Twenty-six (16 girls) with confirmed myasthenia and ocular symptoms were included. Ten patients had definite autoimmune myasthenia gravis (AIMG); 6 had suspected AIMG with negative antibody testing. Six patients had definite congenital myasthenic syndrome (CMS); 4 had suspected CMS with no evidence of mutation. Mean age at diagnosis of myasthenia was 5 years-3 years and 5 months for CMS and 6 years and 3 months for AIMG. Male to female (M:F) ratio was 6/10 for autoimmune myasthenia gravis and 4/6 for CMS. Ptosis was present in all cases; strabismus in 21 patients (68%). The clinical forms of myasthenia were ocular myasthenia in 12 patients (10 AIMG and 2 CMS), generalized in 12 patients (7 CMS and 5 AIMG) and secondary generalization of ocular myasthenia in 2 patients (2 AIMG). DISCUSSION: These results are based on only 26 cases, which can be explained by the rarity of this diagnosis in children. As in adults, the first signs are often ophthalmologic - ptosis alone or associated with strabismus. Diagnosis is difficult because of the absence of clinical signs, laboratory tests or electrophysiological signs with high sensitivity. Thus, the work-up may remain completely negative in secondarily proven forms. In addition, electroneuromyograms and oculomotor recordings in small children are more difficult to perform than in adults. For these reasons, the clinical examination is essential. In the case of strong suspicion, all additional medical examinations are carried out in a day unit, in order to reach a positive diagnosis of myasthenia. The so-called "congenital" forms, which are genetic, are proportionately higher than in adults, and diagnosis and treatment are often more difficult than in the classic autoimmune forms. CONCLUSION: Myasthenia can affect children from a very young age and can present as ptosis, initially isolated or associated with strabismus. Diagnosis and treatment may be difficult and should be organized in specialized centers.

A Case of Horner's Syndrome Aiding the Diagnosis of Internal Carotid Artery Dissection (ICAD): A Life-Saving Twist of Fate.

A 59-year-old male patient came to the outpatient department with complaints of left-sided hemicranial headache with drooping of the left upper eyelid (UL) for three days associated with difficulty in swallowing and deviation of the tongue. The patient had a history of vigorous coughing for the past 15 days for which he did not take any medications. He was thoroughly evaluated in the outpatient department and diagnosed with Horner's syndrome. Acute Horner's syndrome with pain is nearly a hallmark of carotid dissection, and MRI of the brain and orbit was thus advised. On MRI, a hyperdense area was noted around the left internal carotid artery for which he was advised magnetic resonance angiography, which revealed internal carotid artery dissection (ICAD) of the left side. The patient was diagnosed with left-sided Horner's syndrome following left ICAD with involvement of the left hypoglossal nerve. He was started on antiplatelets and anticoagulants and closely followed up. Early diagnosis and prompt treatment were lifesaving for this patient.

Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome.

[This corrects the article DOI: 10.3389/fgene.2024.1343411.].

Eyelid retraction during smiling in a patient with monocular congenital ptosis: a case report.

BACKGROUND: Blepharoptosis is a common symptom in ophthalmology clinic, but eyelid retraction when smiling in a ptosis eye is a rare manifestation. Here we report a novel manifestation that eyelid retraction during smiling in a patient with monocular congenital ptosis. CASE DESCRIPTION: A 10-year-old girl with isolated and mild unilateral congenital ptosis showed eyelid retraction in ptotsis eye when smiling together with a lid lag on downgaze. She didn't have any systematic and ocular diseases other than myopia and astigmatism.Eyelid retraction during smiling is 5 mm, resulting in a significant difference in the height of bilateral palpebral fissures.As for ptosis, is mild.The margin to reflex distance 1 is 1.0 mm on the right eye(ptosis eye) and 3.0 mm on the left eye. A lid lag of 1.0 mm on downward gaze was noted on the right, she could close her eyes fully while sleeping.The ice pack test, laboratory test for thyroid function, whole-exome sequencing (WES) and magnetic resonance imaging(MRI) of the orbital and ocular motor nerves showed normal results.Her symptoms alleviated after 6 months, with the retraction of the right upper eyelid when smiling was approximately 3 mm, thus the difference in the palpebral fissure height when smiling was smaller than that at the initial presentation. CONCLUSION: Blepharoptosis may accompanied with abnormal innervation like eyelid retraction, this phenomenon can be alleviated with age.The results of the levator muscle function test should be carefully examined to determine whether it is ptosis in an impaired innervation eyelid.

Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.

PURPOSE: This study aims to describe the ocular manifestations, treatment, and prognosis of OPMD patients registered in the national Israel OPMD(IsrOPMD) registry. METHODS: Data was prospectively collected from patients referred to the IsrOPMD registry from January 2022 to March 2023. This included patient demographics, medical and ocular history, eye exams, eyelid evaluations, visual field exams, and orthoptic evaluations. RESULTS: 30 patients (15 males, mean age 53 years) were treated in the ocular OPMD clinic, predominantly of Bukhari descent (86.6%). The mean visual acuity was 0.06 logMAR. Twenty-one patients (70%) had eye movement problem, mostly in horizontal gaze. 6(20%) patients' complaint about diplopia. Ptosis surgery was performed in 21(70%) patients, with 17(56.7%) patients underwent frontalis sling surgery and 4(13.3%) patients undergoing levator advancement. The mean Margin reflex distance (MRD1) improved post-surgery (2.28 mm vs. 1.58 mm), but 11(36.6%) patients required more than one ptosis surgery. CONCLUSIONS: The study contributes valuable insights into the ocular aspects of OPMD. It reveals that OPMD patients often experience a range of ocular symptoms, such as ptosis, abnormalities in eye movements, strabismus, and potentially diplopia, which can significantly impact their quality of life. The findings underscore the importance of regular ophthalmological follow-up for these patients to address these symptoms effectively. The study is significant in contributing to the limited but growing knowledge about the ocular manifestations of OPMD and the management of these symptoms to improve the quality of life for patients suffering from this condition.

Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.

A Case of Epstein-Barr Virus Encephalitis and Orbital-Face Inflammation.

Epstein-Barr virus (EBV) can cause follicular conjunctivitis, keratitis, oculoglandular syndrome, meningitis, and encephalitis. We report a 54-year-old Hispanic male who presented with right pupil-involved complete ophthalmoplegia, orbital and masticatory muscle inflammation, trigeminal enhancement, and new corneal infiltrate highly suggestive of EBV. Labwork was negative except for positive EBV polymerase chain reaction (PCR) in serum. Magnetic resonance imaging (MRI) of his brain and orbits with contrast showed enhancement of the right ganglion of the trigeminal nerve, oculomotor nerve, all extraocular muscles in the right orbit, and right masticatory and temporalis muscles and a right subacute lacunar infarct. The patient was diagnosed with encephalitis and orbital-face inflammation secondary to EBV infection. The patient improved with systemic steroids.

Müller muscle-Conjunctival Resection (MMCR) Surgery: A Comprehensive Literature Review.

PURPOSE: This literature review aims to provide a comprehensive overview of the current understanding, indications, techniques, outcomes, and complications of Müller muscle-conjunctival resection (MMCR) surgery. It also addresses areas of debate with MMCR such as predictability concerning Phenylephrine response as well as the amount of muscle resection required. METHOD: This literature review was compiled based on the available evidence from PubMed from 1975 to August 2023. RESULTS: The success rate of MMCR ranges from 72% to 95%, with high patient satisfaction reported in most studies. The exact range of eyelid elevation after MMCR is variable, with a reported average of 2.1 mm MRD1 elevation. CONCLUSION: MMCR is a well-established surgical technique used to correct upper eyelid ptosis that results from dysfunction or attenuation of the levator aponeurosis. MMCR proved to be a safe and effective procedure with a high patient satisfaction rate and low risk of complications.

Refractive changes associated with oculoplastic surgeries: A scoping review.

PURPOSE: To carry out a comprehensive critical review of the peer-reviewed literature on the refractive changes associated with oculoplastic surgeries. METHODS: This review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR) statement recommendations. Following specific inclusion and exclusion criteria, 20 articles were selected for the current scoping review. Each of them was analyzed carefully and their risk of bias was assessed with the Quality Assessment Tool for case Series Studies from the National Heart, Lung and Blood Institute. RESULTS: Data of 1428 eyes from 1051 patients were analyzed. All studies were case series. Regarding the oculoplastic pathologies, five articles focused on dermatochalasis, four on chalazion, five on ptosis and six on congenital ptosis. Most articles did not report changes in the spherical equivalent (SE), astigmatism changes of less than 0.5 diopters (D), changes in astigmatism axis of less than 11 degrees and changes in uncorrected distance visual acuity (UDVA) of less than 0.06 logMAR. Out of the 20 articles reviewed, 6 achieved a risk of bias score between 6 and 8, representing a low level of evidence and highlighting the limitations in the study design. CONCLUSIONS: Based on the findings of this study, there is no evidence to suggest clinically significant refractive changes following oculoplastic surgeries. The most notable changes may occur after surgery for severe ptosis; however, further research is needed to confirm this observation.

A Rare Case of Isolated Abducens Nerve Palsy With Contemporaneous Thalamic Infarct.

We report a case of isolated left abducens nerve palsy accompanying a right thalamic infarct. The patient, a 43-year-old Malay male with newly diagnosed hypertension, diabetes mellitus, and dyslipidemia, initially reported binocular diplopia on left lateral gaze persisting for five weeks. Subsequently, he experienced acute left-sided body weakness and slurred speech for over one day. Clinical examination revealed restricted left eye lateral gaze (-3) with no relative afferent pupillary defect. Additionally, decreased power (4/5) was noted in the left upper and lower limbs. Brain magnetic resonance imaging (MRI) revealed restricted diffusion in the right thalamus extending to the right posterior internal capsule, left anterior cingulate gyrus, and left caudate nucleus. The patient was initiated on antiplatelet, antihypertensive, and oral hypoglycemic agents, resulting in symptom improvement. This rare neuroophthalmological finding has not been reported previously.

Uraemic brainstem encephalopathy mimicking ocular myasthenia: a case report.

BACKGROUND: Uraemia causes a generalised encephalopathy as its most common neurological complication. Isolated brainstem uraemic encephalopathy is rare. We report a case of fatigable ptosis and complex ophthalmoplegia in brainstem uraemic encephalopathy. CASE PRESENTATION: A 22-year-old Sri Lankan man with end stage renal failure presented with acute onset diplopia and drooping of eyelids progressively worsening over one week. The patient had not complied with the prescribed renal replacement therapy which was planned to be initiated 5 months previously. On examination, his Glasgow coma scale score was 15/15, He had a fatigable asymmetrical bilateral ptosis. The ice-pack test was negative. There was a complex ophthalmoplegia with bilateral abduction failure and elevation failure of the right eye. The diplopia did not worsen with prolonged stare. The rest of the neurological examination was normal. Serum creatinine on admission was 21.81 mg/dl. The repetitive nerve stimulation did not show a decremental pattern. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse midbrain and pontine oedema with T2 weighted/FLAIR hyperintensities. The patient was haemodialyzed on alternate days and his neurological deficits completely resolved by the end of the second week of dialysis. The follow up brain MRI done two weeks later demonstrated marked improvement of the brainstem oedema with residual T2 weighted/FLAIR hyperintensities in the midbrain. CONCLUSIONS: Uraemia may rarely cause an isolated brainstem encephalopathy mimicking ocular myasthenia, which resolves with correction of the uraemia.

Quantitative analysis of the eyelid curvature in patients with blepharoptosis.

BACKGROUND: The aim of this study was to evaluate the ability of two novel eyelid curvature measurements to distinguish between normal eyes and different severities of blepharoptosis. METHODS: A comparative cross-sectional analysis of upper eyelid curvature was performed for different severities of patients with unilateral blepharoptosis (congenital and aponeurotic) and normal controls. Mean upper lid contour index (ULCI) and area circularity index (ACI) were calculated for each group by dividing the intercanthal distance by upper eyelid margin length (ULCI) and dividing the interpalpebral area by the area of a circle enclosing the eye (ACI). The ratio of each index for the study and fellow normal eye of each patient was also calculated and compared between groups. RESULTS: A total of 106 eyes including 30 eyes in the control group and 25, 27, and 24 eyes in the mild, moderate, and severe ptosis groups were enrolled in the study. ULCI and ACI showed a statistically significant difference between the groups (p < 0.001, p < 0.001). The inter-eye ratio (ULCI-ratio and ACI-ratio) of indices was also significantly different between groups (p = 0.002, p < 0.001). Pairwise comparisons revealed that ACI and ACI-ratio were significantly different between all pairs of study groups. CONCLUSION: The results of our study showed that ACI based on area measurements may distinguish blepharoptosis patients from normal controls and from each other. Including the data from the fellow normal eyes in the form of ratio indices may improve the differentiating power. These results can be useful in designing the optimal eyelid curvature measurements.

A Rare Presentation of Guillain-Barré Syndrome With Associated Horner Syndrome: A Case Report.

Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy involving the peripheral nervous system. Autonomic dysfunctions are well-known complications of GBS and are major contributors to mortality. Autonomic dysfunctions are classically described during the acute phase of illness. In the literature, Horner syndrome as a manifestation of GBS has been reported in very few cases. Here, we describe a case of GBS with an acute presentation of flaccid paraparesis associated with unilateral Horner syndrome. Detecting the cause of acute flaccid paraparesis with unilateral Horner syndrome poses a diagnostic challenge, making it crucial for clinicians to maintain a heightened awareness for distinguishing between GBS and its variants, as well as other potential mimics.