Ocular Myasthenia Gravis Research Articles

Mechanism of Th1/Th2 Cytokines in HLA-DQ8 Transgenic Mice Model of Ocular Experimental Autoimmune Myasthenia Gravis

Objective To analyze the levels of cytokines (IL-2,IFN-γ,IL-6,IL-10) associated with Th1 and Th2 cells in HLA-DQ8 transgenic mice model of ocular experimental autoimmune myasthenia gravis (oEAMG) induced by recombinant H-AChR γ subunit immunization.Methods DQ8 mice were immunized with 20 μg of AChR γ subunit,20 μg of crude E. coli extract (E. coli group),or complete Freund's adjuvant (CFA) only (CFA group). All mice were immunized on days 0,30,and 60. Mice were euthanized 28 days after the third immunization,and draining lymph node cells (LNC) and spleen lymphocytes were cultured in vitro. The supernatant was collected to observe the interleukin(IL)-2,interferon(IFN)-γ,IL-6,IL-10 production by ELISA.Results LNCs and spleen lymphocytes of H-AChR γ subunit-immunized mice exhibited significantly enhanced IFN-γ (F=76.332,P<0.001;F=34.865,P<0.001) and IL-2 (F=42.835,P<0.001;F=38.030,P<0.001),which associated with Th1 cells,as compared to E. coli group and CFA group. There were no significant differences in IL-6 (F=1.325,P=0.284;F=1.935,P=0.166) and IL-10 (F=0.908,P=0.417;F=1.189,P=0.322) levels,which secreted by Th2 cells,among these three groups.Conclusion Th1 cytokines play key roles in the pathogenesis of oEAMG,while the mechanism of Th2 cytokines for oEAMG remains unclear.

Myasthenia Gravis Associated With Orbital Marginal Zone Lymphoma

Myasthenia Gravis Associated With Orbital Marginal Zone Lymphoma

MiR-30e-5p as predictor of generalization in ocular myasthenia gravis.

ObjectiveTo determine a predictive factor for the risk of conversion from ocular myasthenia gravis (OMG) to generalized MG (GMG) in a prospective study.Methods RNA was isolated from serum samples and detection of microRNA (miRNA) expression analyzed with qPCR. In the discovery set, 179 human miRNAs were assayed for profiling of five OMG patients and four age‐ and gender‐matched healthy controls. Based on the specific accumulation pattern of 19 miRNAs from the discovery set, in addition to miRNAs previously found elevated in generalized MG (GMG; miR‐150‐5p and miR‐30e‐5p), 21 miRNAs were subsequently analyzed in a validation cohort of 83 OMG patients (82 immunosuppression treatment naive; 49 male) within 3 months of diagnosis and at a follow‐up visit (median duration 28 months from first visit).ResultsThirteen patients generalized 14.8 ± 12.0 months after the diagnosis and the majority (85%) belonged to the late onset MG group. Two miRNAs were significantly higher in secondary GMG (SGMG) patients compared to OMG patients with late onset MG: miR‐30e‐5p (9.1 ± 0.5 vs. 6.3 ± 0.9; P < 0.0001) and miR‐150‐5p (7.4 ± 1.1 vs. 6.4 ± 1.1; P = 0.01). The sensitivity for miR‐30e‐5p in differentiating OMG and SGMG was 96% in all OMG patients and 100% in late onset OMG patients.InterpretationThis is the first study to describe a potential predictive factor associated with the risk of generalization for patients with OMG. Raised levels (>8) of miR‐30e‐5p at initial presentation in patients with ocular MG symptoms, give a predictive cut‐off for subsequent generalization of 96–100%.

Do early prednisolone and other immunosuppressant therapies prevent generalization in ocular myasthenia gravis in Western populations: a systematic review and meta-analysis.

Background:The majority of ocular myasthenia gravis (OMG) patients will progress to generalized myasthenia gravis (GMG), usually within 2 years of disease onset. The aim of this meta-analysis was to evaluate the effect of early prednisolone and other immunosuppressants therapy on the generalization rate in OMG patients.Methods:We searched the CENTRAL, EMBASE, and MEDLINE databases via the Ovid SP database for all relevant publications on 16 July 2018.Results:Eight studies comprising a total of 547 participants were included in our meta-analysis. Compared with pyridostigmine treatment, prednisolone and other immunosuppressants therapy produced an odds ratio (OR) for the development of GMG of 0.19 [95% confidence interval (CI), 0.11–0.30; I2 = 37%], indicating that early prednisolone and other immunosuppressants therapy reduced the generalization rate in OMG by 81%.Conclusions:Early prednisolone and other immunosuppressants therapy can significantly reduce the risk of generalization in OMG patients, and should be considered in newly diagnosed OMG patients. Due to the inclusion of retrospective studies, this noted effect might have been related to corticosteroids, especially when immunosuppressants used at low dosages and in mild disease. Additionally, the data derived from Western populations, thus a prospective randomized controlled trial (RCT) is warranted to confirm this effect of early prednisolone and other immunosuppressants therapy on OMG generalization both in Western and Asian populations.

Treatment of Ocular Myasthenia Gravis.

Myasthenia gravis is a relatively common neuromuscular disorder, with ocular myasthenia gravis being a subset defined as myasthenia gravis limited to the orbicularis, levator, and extraocular muscles. Patients with ocular myasthenia gravis can have disabling diplopia or functional blindness from ptosis and in most cases treatment is required. Like generalized myasthenia gravis, there are a variety of treatments available that include pyridostigmine, immunosuppression, intravenous immunoglobulin, plasmapheresis, thymectomy, lid crutches, ptosis surgery, and extraocular muscle surgery. Unfortunately, there is limited data on the use of individual treatments in ocular myasthenia gravis and no data comparing treatments. Using a combination of available data on treatment of generalized myasthenia gravis, data on treatment of ocular myasthenia gravis, best practices, and clinical experience we will provide a rational framework for treatment of ocular myasthenia gravis.

Pediatric ocular myasthenia gravis: Case report and literature review

Objective: The objective was to describe a case of ocular myasthenia gravis (MG) in a pediatric patient. Design: This is a descriptive, retrospective study and case report. Methodology: For the purpose of the case report, we searched and analyzed the literature referring to the diagnosis and treatment of ocular MG (OMG) in children. Description: A previously healthy 5-year-old girl presented to the emergency room because of sudden-onset ptosis of the right upper lid without other symptoms. Her examination demonstrated fluctuating ptosis and limitation to downgaze in the right eye. Because of the fluctuation of the ptosis, OMG was suggested, and the patient was tested with ice-pack test and neostigmine test with positive results. Treatment with pyridostigmine was initiated with a good response. Discussion: OMG has a very low incidence in pediatric patients. It is a disorder characterized by impairing neurotransmission at the neuromuscular junction that generates extraocular muscle weakness. It is important that ophthalmologists have knowledge about this disease because it is a differential diagnosis when there is a patient who has ptosis, strabismus, or limitation of movements. There are no standard diagnostic criteria for this disease; the diagnosis is based on clinical presentation and pharmacologic, serologic, and electrophysiologic tests. The treatment is based on steroids and anticholinesterase drugs. Some patients will require plasmapheresis or immunomodulators.

Evaluation and validation of sustained upgaze combined with the ice-pack test for ocular myasthenia gravis in Asians

The accuracy of the ice-pack test for diagnosing myasthenia gravis (MG) has been reported to be excellent, however, the sensitivity is low in patients with mild ptosis which is common in Asians who have absent or low double eyelid folds. Herein, we performed the ice-pack test after sustained upgaze and tested its validity for diagnosing MG. The study included 30 newly diagnosed MG patients with ptosis (median age 47 years, range 2–87 years) and 30 controls with ptosis other than MG (median age 58 years, range 5–83 years). All MG patients initially presented with ptosis and/or diplopia; 26 patients had purely ocular MG while 4 patients progressed to generalized MG. All patients performed the new ice-pack test after sustained upgaze for 2 min. The ice-pack test was judged positive if there was an improvement of at least 2 mm of margin reflex distance compared to the level of ptosis before (conventional ice-pack test) or after (new ice-pack test) sustained upgaze. Subgroup analysis was performed according to the level of ptosis. The conventional test showed 43.3% sensitivity and 100% specificity for diagnosing MG, while the new ice-pack test achieved 73.3% sensitivity and 96.7% specificity, respectively. In patients with mild ptosis, the sensitivity and specificity for diagnosing MG were 27.8% and 100% by the conventional test, and 72.2% and 96.7% by the new ice-pack test, respectively. The new ice-pack test combined with sustained upgaze was more sensitive for diagnosing MG, particularly in patients with mild ptosis which is common in Asians.

Kontakt lens kullanımının oküler yüzey ve Meibomian bezleri üzerine etkileri

Aim: To determine the impact of contact lens (CL) wear on the ocular surface and Meibomian glands (MG).Materials and Methods: 24 silicone hydrogel CL wearers for a minimum of 5 years (Group 1) and 26 healthy volunteers (Group 2) were included in this retrospective study. Best corrected visual acuity, Oxford scoring, tear film break-up time (T-BUT), Schirmer 1 test, Ocular Surface Disease Index (OSDI) scoring and MG evaluation by infrared captures of optic coherence tomography (OCT) were performed. Loss of the MG was scored blindly by a single researcher.Results: The mean age was 30.00±6.22 in Group 1 and 28.70±4.95 in Group 2 (p=0.300). Male/female ratio was 4/20 in Group 1 and 9/17 in Group 2. The average duration of CL wear was 10.70±2.70 years. The mean T-BUT in Group 1 and 2 were 17.70±76.74 and 24.76±8.06 sec, respectively (p=0.002). The mean Schirmer 1 test in Group 1 and 2 were 29.04±7.67 and 25.50±8.48 mm, respectively (p=0.129). The mean Oxford scale staining in Group 1 and 2 were 0.58±0.94 and 0.15±0.41, respectively (p=0.040). The mean OSDI scores in Group 1 and 2 were 29.36±19.25 and 23.63±21.99, respectively (p=0.334). The average upper, lower eyelid, and total meiboscores in Group 1 and 2 were 0.95±0.87, 0.66±0.73, 1.60±1.40 and 0.67±0.59, 0.67±0.70 and 1.34±1.17, respectively. No statistical significance was detected in any of these scores. Conclusion: CL wear has a variety of effects on ocular surface. MG has a significant influence on ocular surface. Meiboscoring is an effective and practical way for evaluation of the MG.

Myasthenia gravis following human papillomavirus vaccination: a case report

BackgroundMyasthenia gravis (MG), an autoimmune neuromuscular disorder, occurs owing to autoantibodies against acetylcholine receptors. MG symptoms can be triggered by various vaccines. Many studies have evaluated the safety and adverse events of the human papillomavirus (HPV) vaccine. Here, we present a life-threatening case of ocular and bulbar MG symptoms after HPV vaccination and a brief literature review.Case presentationA 23-year-old woman presented with binocular diplopia, ptosis, dysarthria, and dysphagia, which occurred on the 3rd day after the second HPV vaccine administration. She was diagnosed with MG based on history, clinical features, and test results. Her symptoms deteriorated on the 3rd day after admission, and she was transferred to the intensive care unit with mechanical ventilation. On the 7th day after admission, due to discomfort in the right chest, pulmonary embolism was suspected. A tracheostomy was performed on the 14th day of mechanical ventilation. In the 4th week, the tracheostomy tube was removed; all symptoms had completely resolved at discharge. She was followed up for 5 months without recurrence or further treatment.ConclusionHPV vaccination may cause MG owing to unexpected abnormal autoimmune responses. Additional studies are needed to clarify the possible causal relationship between the HPV vaccine and neurological complications and to evaluate the safety of the vaccine.

Decreased expression of circulating Aire and increased Tfh/Tfr cells in myasthenia gravis patients.

Myasthenia gravis (MG) is a rare prototypical autoimmune disorder caused by antibodies (Ab) against postsynaptic membrane proteins. Most reports have investigated the role of autoimmune regulator gene (Aire) in thymic tissue in machianism of MG initiation. So far, the expression of Aire in human peripheral blood cells (we call it circulating Aire expression in the following passage) has not been reported. Herein, we explore the expression of Aire in peripharal blood, circulating T-follicular helper (cTfh) and T-follicular regulatory (cTfr) cells in MG patients. In our research, we found that the acetylcholine receptor (AChR) Ab level is higher in generalized MG (GMG) than that in ocular MG (OMG). Compared with the control group (CG), lower expression of Aire was found in MG patients, especially in GMG. The ratio of Tfh/Tfr was higher in GMG patients, and then in the OMG patients, and lowest in CG. All these differences above were statistically significant. Negative relation was discovered between expression of Aire in circulating blood and ratio of Tfh/Tfr, so did it exist between Aire expression and the severity of MG. Meanwhile, positive relation was discovered between ratio of Tfh/Tfr and the severity of MG. However, no significant relation was manifested in our study between the subset age of MG and Aire level. Overall, these findings imply circulating Aire might play a role in the imbalance of cTfh and cTfr cells and participate in the pathogenesis of MG.

Ocular myasthenia gravis: an update on diagnosis and treatment.

Myasthenia gravis is an autoimmune disease that commonly affects the palpebral and extraocular muscles. Ocular myasthenia gravis (OMG) is a variant of the disease that is confined to the ocular muscles but frequently becomes generalized over time. The diagnosis of OMG is often challenging but both clinical and laboratory findings are helpful in confirming the clinical suspicion. This review provides an update on the diagnostic approach and therapeutic options for OMG. Antimuscle-specific tyrosine kinase and LDL-related receptor-related protein 4 are newly available serologic testing for myasthenia gravis that can help in increasing the diagnostic sensitivity of OMG. They should be included to the diagnostic algorithm of OMG in appropriate clinical situations. OMG remains a primarily clinical diagnosis, but recent advances in laboratory testing can improve the diagnostic accuracy and should be used in appropriate clinical settings. The mainstay of treatment for OMG has not significantly changed over the past years, but the increasing availability of steroid-sparing agents improved the disease control while minimizing steroid-induced complications.

A tri-modal distribution of age-of-onset in female patients with myasthenia gravis is associated with the gender-related clinical differences

Background: A tri-modal distribution of age-at-onset emerged among females patients with myasthenia gravis (MG) in our database. This finding may be indicative of different gender-based disease mechanisms.Methods: We retrospectively reviewed the files of 127 MG patients for the clinical, serology and thymus pathology according to their age at disease onset: ≤40 years (early-onset, EOMG), 40–70 years (intermediate-onset, IOMG) and >70 years (late-onset, LOMG).Results: EOMG was more common among females, and IOMG was more common among males. Ocular MG was more common among the male MG patients with an IOMG. Patients with EOMG had lower rates of positive anti-acetylcholine receptor (anti-AChR). IOMG females, but not IOMG males, had lower rates of positive anti-AChR. IOMG and EOMG females had high rates of thymic hyperplasia, while EOMG males had high rates of thymoma. Comorbidity with autoimmune diseases was common among females with IOMG and LOMG.Conclusions: The prevalence of IOMG was the reason for the trend reversal of MG prevalence between genders. The clinical features of patients with IOMG differed between genders in the rates of positive anti-AChR, follicular hyperplasia of the thymus and comorbidity with autoimmune diseases. This may suggest a different gender-based mechanism of immune intolerance towards AChR and other antigens.

Concentric or monopolar electrode for jitter determination in orbicularis oculi

ObjectivesTo investigate if monopolar (MN) and concentric (CN) electrodes are equivalent for volitional contraction jitter estimation in orbicularis oculi (OO), and to study the effect of selecting a specific high-pass filter. MethodsWe studied neuromuscular jitter in OO on both sides in 100 consecutive patients with a clinical diagnosis of ocular myasthenia gravis (MG). We used either MN (50 patients) or CN (50 patients) electrodes in individual patients, according to a randomised protocol, with a 1kH high pass filter on one side and a 3kH filter on the other. Ten or more potential pairs were studied on each side. Results48 patients had a definite clinical diagnosis of ocular MG, and 52 of mimicking-disorders, who were analysed as controls. In controls, jitter (MCD) showed a normal distribution independent of the electrode type or filter settings. The mean jitter value and the number of abnormal pairs (>10%) was similar in MN and CN recordings, with both 1 kHz and 3 kHz filters. Sensitivity was 73% for mean jitter and 94% for number of abnormal pairs. Specificity was 100%. ConclusionsThe jitter in OO using MN or CN was similar in controls and the diagnostic sensitivity was similar using either electrode in patients with ocular MG. The use of high-pass filters of 1 or 3 kHz did not influence these results. SignificanceMN and CN are both suitable for determining volitional jitter in OO.

Clinical differences of early and late-onset myasthenia gravis in 985 patients

ABSTRACTObjective: The clinical differences of early-onset myasthenia gravis (EOMG) and late-onset MG (LOMG) have not been elucidated in China. In order to clarify this, a retrospective study was conducted in 985 MG patients, whose disease duration was longer than 3 years.Methods: These patients were separated into EOMG and LOMG according to the onset age of 50 years. The clinical differences including demographics, clinical features, thymus abnormalities and comorbidities of EOMG and LOMG patients were analyzed.Results: Results indicated that 485 were males and 500 were females, 714 were EOMG and 271 were LOMG. Female was more common in EOMG and male was more common in LOMG (p = 0.003). The peak onset age was 0–4 years in EOMG and 55–59 years in LOMG. Ocular MG (OMG) was more common in EOMG and generalized MG (GMG) was more common in LOMG (p = 0.004). The transformation rate of OMG to GMG was higher in LOMG (p = 0.002). The positive incidence of repetitive nerve stimulation (RNS) was higher in EOMG (p = 0.026). Thymoma was more frequent in LOMG (p = 0.017) and thymic hyperplasia was more frequent in EOMG (p < 0.001). Hyperthyroidism was more common in EOMG (p = 0.017) and diabetes was more common in LOMG (p < 0.001).Conclusion: These results have potential significance for the recognition of clinical features and the determination of management strategies in EOMG and LOMG.

Influencing factors of serum complement C3、C4 in children with myasthenia gravis

Objective Complement plays an important role in the pathogenesis of myasthenia gravis.The formation of membrane attck complex and the damage of neuromuscular junction are inseparable from the activation of complement.Then to investigate the influencing factors of serum complement C3, C4 in children with myasthenia gravis and investigate the degree of influence of related factors. Methods One hundred sixty seven cases of hospitalized or outpatient myasthenia gravis children from the Department of Neurology in Hunan Children′s Hospital were collected, including 33 cases of general MG, 134 cases of ocular MG, and 36 cases of normal children as control group.The concentrations of serum C3, C4, IgG, IgM, IgA, IgE were detected by immune compare turbid.The influencing factors of complement C3, C4 were investigated and compared. Results The serum C3 levels were 1.07±0.22 g/L, and the serum C4 levels were(0.17±0.05)g/L in the general MG.The serum C3 levels were(1.01±0.20)g/L, the serum C4 levels were(0.20±0.08)g/L in the ocular MG.There were(1.36±0.28)g/L for C3 levels, (0.25±0.11)g/L for C4 levels in the control group.Compared with the control group, there were significant difference in C3 and C4 between the general MG and ocular MG(P<0.01 or 0.05). The partial correlations coefficients of C3 and course of disease, IgG and C3, C3 and C4 were-0.162, 0.135, 0.446(P<0.01 or 0.05). The multiple linear regression equations were as followed: C4=0.420×C3, C3=0.655+ 1.148×C4+ 0.008×body weight -0.005×course of disease.Using univaruate analysis, the effect factors of C4(F=18.151, P=0.000), body weight(F=6.420, P=0.003), course of disease(F=3.015, P=0.039), age× course of disease×body weight(F=2.997, P=0.042)to C3 were significant(P<0.05, or P<0.01). Conclusion The C3 levels are mainly affected by C4, body weight, duration and some interaction effects among several impact factors in children with MG.C4 is mainly affected by C3. Key words: Children; Myasthenia gravis; Humoral immunity; Complement 3; Complement 4

THUR 231 Developing a new rating scale for ocular myasthenia gravis

Ocular Myasthenia Gravis (OMG) causes ptosis and diplopia, which can be disabling. For this study, OMG is defined as MG patients who have ocular symptoms only and no generalised involvement. A robust way of assessing the severity of OMG symptoms is important for research, to assess treatment and outcome. The rating scales recommended for MG research have a predominant focus on generalised disease, and are insufficiently sensitive for OMG due to the limited number of ocular questions. This study aims to create a new rating scale for OMG that is sensitive, reliable and clinically usable. We present our proposal of such a rating scale, which incorporates physician- and patient-rated components. We report the preliminary results of this pilot observational cohort study, in 60 patients with OMG. We compare the results of this with the MG composite scale.Future work is planned to validate this rating scale and to develop this alongside the MG Impairment Index (MGII). For future phases of this study we plan to assess the usability of this rating scale by Neurologists without specialist Neuro-ophthalmology.We invite feedback from Neurologists at the ABN.

West Nile virus induces a post-infectious pro-inflammatory state that explains transformation of stable ocular myasthenia gravis to myasthenic crises

West Nile virus (WNV) infection has been reported to promote myasthenia gravis (MG) and various other diseases that have a presumed autoimmune pathogenesis. Molecular mimicry between WNV proteins and host proteins has been postulated as the major mechanism for WNV-triggered breaking of immunological self-tolerance. We present a patient with stable ocular MG and positive anti-acetylcholine receptor antibodies who progressed to myasthenic crisis after WNV neuroinvasive disease. In this case of stable autoimmune disease with proven auto-antibodies, transformation to generalized disease cannot be attributed to molecular mimicry, which requires that an immune response first be generated against an infectious agent. Rather, the evidence supports the concept of a post-infectious pro-inflammatory state that may contribute to the amplification and promotion of autoimmune disease in some WNV survivors.

THUR 213 An unusual case of cluster acetylcholine receptor antibody positive myasthenia gravis

A 73-year-old builder presented with fatigable ptosis and ophthalmoplegia. He was started on pyridostigmine for presumed ocular myasthenia gravis (MG). Despite making an initial improvement he subsequently developed dysarthia, dysphonia and a head drop within 3 weeks. At this time, he also had mild proximal weakness and marked asymmetrical distal weakness of the upper limbs and mild distal lower limb weakness.Conventional serological screening for acetylcholine receptor (AChR) and muscle specific kinase antibodies were negative. However, extended testing using a cell-based cluster assays demonstrated AChR antibody positivity. Repetitive nerve stimulation demonstrated significant decrement more prominent in distal muscles.Despite high dose prednisolone, azathioprine, several courses of IV Immunoglobulins and plasma exchange the patient has had frequent admissions to the high dependency and intensive care setting with respiratory failure.Cluster AChR antibody positive MG has been described only within the last decade and is usually mild and treatment responsive. This is the first case reported to have required intubation and ventilation due to respiratory failure. This case highlights the importance of extending the routine panels for antibody testing in patients with ‘seronegative’ MG and the need to remain vigilant in patients with cluster-AChR positive disease.

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.57Clinical features in juvenile myasthenia gravis in an Argentinian cohort

Juvenile myasthenia gravis (JMG) is an acquired autoimmune condition of the neuromuscular junction, caused by an antibody-mediated attack on the nicotinic acetylcholine receptor (AChR) and in a small minority associated with muscle-specific kinase (MuSK) antibodies. To determine the clinical and evolution related features of JMG in a 240 argentinian pediatric cohort. Cross sectional study of patients with JMG at three argentinian hospital, from January 1993 to January 2018. We included 240 patients by the symptoms, electrophysiology, AChR or MuSK antibody levels and a positive response to pharmacological treatment. We review medical charts in order to get clinical features from the onset symptoms, presence of antibody. Patients were classified by the MGF scale and compared by clinical features into the prepubertal and pubertal/postpubertal groups. Patients were followed for at least 3 years in order to know the final classification. We included 240 patients, 47% prepubertal, woman 1.85:1 (in prepubertal 1.09:1 and postpubertal 2.28:1), with age mean 7.2 (range 11 months to 17 years old). The onset symptoms were ptosis 83%, ocular symptoms 64% (43% generalized symptoms at 2 years follow-up), 30% had bulbar symptoms and y 12.5% had ventilatory compromised. The 22% (47% en prepubertal) ocular myasthenia gravis 7% had myasthenia crisis. In 78% of our cohort had AChR antibody (61% in prepubertal and 93% in postpubertal), 0.8% anti-Musk and 21% double-seronegative. We saw an stable-remission in 39 % (spontaneously 17%, 57% prepubertal and 29% were postpubertal). Minimal symptoms in 37%, pharmacological remission 19% and 13% remains symptomatic. This paper allow us to know abouts the clinical features, evolution and treatment response of the largest cohort described in Argentina. This encourage us to do a multicenter prospective studies in order to clarify this disease in children and to evaluate the new therapies.

A TYPICAL CASE OF CHILDHOOD OCULAR MYASTHENIA GRAVIS: A LITERATURE REVIEW FROM OPHTHALMOLOGY PERSPECTIVE

ABSTRACT Background: Childhood ocular myasthenia gravis (MG) is a rare autoimmune disease that has a benign course and provide a good overall prognosis. Diagnosis of ocular MG especially in children is often difficult especially in younger age group as the symptoms may be subtle and may mimic other pathology. There are many articles discussing MG in general, but only a handful elaborating on childhood ocular MG. This article is discussing a typical case of childhood MG and a review of current clinical approach particularly from ophthalmology point of view. Case Report: A one-year-old Malay girl who was previously well, presented with 2 weeks history of left eye ptosis and intermittent exotropia following a brief episode of fever. A provisional diagnosis of ocular MG was made. Unfortunately, the patient defaulted pediatric neurology follow up for confirmatory investigations. She came back 2 years later with bilateral ptosis. Upon her second presentation, blood investigation for acetylcholine receptor antibody showed positive result and finally she was diagnosed to have ocular MG. She was co-managed with a pediatric neurologist and was treated with oral pyridostigmine. Satisfactory improvement of ptosis was achieved with no amblyopia. There was no features of systemic MG during 2 years follow up. Conclusion: Although this is a typical presentation of childhood ocular MG, there are many interesting and useful learning points particularly from an ophthalmology point of view.