Ophthalmologic Exam Research Articles

Bilateral Idiopathic Neuroretinitis

Background/Objectives: Neuroretinitis (NR) is a rare inflammatory condition characterized by sudden vision loss, optic disc edema and macular star appearance predominantly affecting individuals in their third and fourth decades of life. Methods: This paper describes the case of 33-year-old Caucasian man with no significant medical history complaining of decreased vision for about a week. Results: The ophthalmological exam revealed best-corrected visual acuity (BCVA) for the right eye (RE) of 0.8 (decimal notation) and of 0.9 for the left eye (LE). Intraocular pressure (IOP) was 20 mmHg in RE and 18 mmHg in LE. Slit-lamp examination of both eyes (OU) showed no evidence of intraocular inflammation in the anterior chamber or vitreous cavity. Examination of the posterior pole of the right eye showed bilateral papilledema with an incomplete macular fan pattern. Conclusions: Despite extensive laboratory tests, including serologic and imaging investigations, a definitive etiology remained unclear. It is very important to differentiate NR from other optic nerve disorders, requiring careful clinical evaluation and observation of the evolution of symptoms.

8203 A Solitary Fibrous Tumor Mimicking a Non-functional Pituitary Macroadenoma

Abstract Disclosure: L. Bernacet Rivera: None. S. Omay: None. A. Huttner: None. S.E. Inzucchi: None. Background: A solitary fibrous tumor (SFT), also known as hemangiopericytoma (HPC), is a rare subset of soft tissue tumors of mesenchymal origin. This type of tumor tends to have aggressive behavior and a high risk of recurrence. Approximately less than 1% of central nervous system (CNS) tumors have been identified as part of this subtype. Case Presentation: A 73-year-old female with medical history of primary hypothyroidism, myelodysplastic syndrome (MDS), and IgM kappa MGUS initially presented to her primary care physician for evaluation of progressive visual loss over several weeks, accompanied by worsening headaches. Ophthalmologic exam revealed bitemporal hemianopsia which prompted urgent imaging. Pituitary MRI with IV contrast revealed a solid sellar mass with suprasellar extension measuring 1.8 x 1.3 x 1.9 cm. The lesion was noted to superiorly displace the optic chiasm as well as to cause mild impingement of the anterior cerebral arteries. Patient was urgently referred to neurosurgery and endocrinology for further evaluation. Initial neuroendocrine laboratory assessment, performed at 8 am, revealed a cortisol 16.5 ug/dL, free T4 1.2 ng/dL, TSH 0.77 mIU/L, prolactin 9.9 ng/mL, IGF-1 17 ng/mL, the latter value consistent with adult growth hormone deficiency. Her LH and FSH were 4.3 mIU/mL and 12.6 mIU/mL, respectively, lower than expected for a post-menopausal woman. She underwent a transnasal transsphenoidal resection of the sellar lesion. Surgery was difficult due to the fibrous nature of the tumor, for which complete resection was not achieved. Post-operative course was complicated by thrombocytopenia due to MDS. Hormonal workup following surgery was consistent with central adrenal insufficiency, hypogonadotropic hypogonadism, and central hypothyroidism. Pathology showed densely cellular spindle cell neoplasm with a collagenous background consistent with hemangiopericytoma. She underwent fractionated radiotherapy and tumor has since remained stable in size. Her visual symptoms resolved quickly following surgery. Discussion: SFT is an aggressive mesenchymal tumor which rarely appears in the sellar region. There are no identified brain MRI findings that would suggest the nature of this tumor. As a result, endocrinologists should be aware of this rare condition while evaluating pituitary neoplasms. Presentation: 6/3/2024

Ophthalmologic symptoms as the first manifestation of primary complete empty sella syndrome- case report

Background: Empty sella syndrome (ESS) is a rare condition associated with loss of pituitary gland volume. ESS has a heterogeneous clinical manifestation including endocrine, neurological, and visual deficits. The most common symptoms include chronic headaches and hormonal disturbances associated with hypopituitarism.Aim of the study: To emphasize the role of ophthalmologists in the initial management of intracranial hypertension and the significance of a multidisciplinary approach in the management of ESS.Case report: Primary complete ESS was reported in a 32-year-old male presenting nonspecific ophthalmologic symptoms including ophthalmalgia and subjective worsening of the visual acuity. The ophthalmological exam revealed bilateral optic disk elevation. The subsequent MRI identified a suprasellar cistern invaginating within sella turcica with resulting pituitary gland flattening. A complete empty sella syndrome was confirmed. In addition, idiopathic intracranial hypertension was suspected. The patient was proposed hospitalization in the neurology department for additional testing however, he refused due to personal reasons.Conclusions: To date, only a few papers reported ESS with preliminary ophthalmological symptoms. All patients with nonspecific eye symptoms should have a complex ophthalmological examination. Bilateral optic disk elevation requires urgent imaging of the brain and orbits, and the golden-standard approach remains MRI. During the diagnostic process, the secondary causes of intracranial hypertension including tumor, bleeding, abscess, hydrocephalus, or venous sinus thrombosis must be excluded. Due to the heterogeneous clinical course of ESS, patients require multidisciplinary management and follow-up by endocrinologists, neurologists, neurosurgeons, and ophthalmologists.

Review of emerging trends and projection of future developments in large language models research in ophthalmology

BackgroundLarge language models (LLMs) are fast emerging as potent tools in healthcare, including ophthalmology. This systematic review offers a twofold contribution: it summarises current trends in ophthalmology-related LLM research and...

An Interesting Case of COPD Exacerbation Presenting with Mixed Features of Intracranial Hypertension and Hypercapnic Encephalopathy

Background: Idiopathic intracranial hypertension (IIH or pseudotumor cerebri) has two major morbidities: papilledema with visual loss and disabling headache. Intracranial Venous Hypertension (IVH) is a fundamental mechanism of IIH. Although traditionally considered limiting to the central nervous system, evidence suggests IIH as a systemic disease associated with cardiorespiratory disorders, which has been far less comprehended. Case Report: A 60-year-old female with Chronic Obstructive Pulmonary Disease (COPD) was admitted for dyspnea and developed a coma with a pH of 7.01 and pCO2 of 158 mmHg. She was intubated and had persistent nuchal rigidity, a brief myoclonus episode with a negative electroencephalogram, and negative CT head studies. A Lumbar Puncture (LP) revealed elevated opening pressure (35 cmH2O) with normal Cerebral Spinal Fluid (CSF) studies. Her nuchal rigidity improved after the removal of 40 mL CSF. The ophthalmology examination the next day after her the large volume LP didn’t show visual loss or papilledema. The patient improved clinically and was extubated two days later. Her echocardiogram showed a dilated right ventricle with pulmonary hypertension. The patient was discharged home. Discussion: IIH is different from hypercapnic encephalopathy and characterized by increased intracranial pressure with papilledema, vision loss, and debilitating headache. Hypercapnia-induced increased intracranial venous flow and pulmonary hypertension-caused elevated central venous pressure with consequent outflow resistance lead to IVH. In hypercapnic encephalopathy, the presentation is mostly cognitive changes. In this case, nuchal rigidity with a negative CT head scan triggered the investigation of IIH. Conclusion: A deep understanding of the relationship between COPD and IIH is vital. There is insufficient evidence to recommend routine eye examinations in COPD patients for papilledema and to conduct a pulmonary function test for a newly diagnosed IIH patient. However, we highly suggest a timely ophthalmology exam prior to performing an LP in COPD patients with suspecting IIH to avoid unnecessary procedures and meanwhile improve clinical outcomes.

HGG-45. HIGH GRADE GLIOMA PRESENTING AS A SYNCHRONOUS CANCER IN A PATIENT WITH DIFFUSE LARGE B CELL LYMPHOMA: A UNIQUE TREATMENT DILEMMA

Abstract BACKGROUND Patients with synchronous tumors pose significant treatment dilemmas. We present a pediatric patient found to have concomitant Diffuse Large B-cell Lymphoma (DLBCL) and a High Grade Glioma (HGG). His unique presentation and family history uncovered a familial diagnosis of Lynch Syndrome. CASE A 7-year-old male presented with acute appendiceal rupture. Surgical resection identified an appendiceal mass consistent with localized DLBCL. While undergoing staging evaluations, the patient complained of new onset blurry vision with normal neurologic and ophthalmologic exams. Subsequent imaging was concerning for a high-grade lesion. Biopsy confirmed HGG and he underwent gross total resection. Family history included a brother with relapsed leukemia status post bone marrow transplant and multiple first cousins with lymphoma and gastrointestinal cancers. RESULTS While awaiting genetics and mutational analysis, we initiated treatment. The HGG was treated with focal radiation to the tumor bed starting 2 weeks after resection. Lymphoma therapy was initiated concurrently per the REBOOT regimen with the goal of decreasing doxorubicin dosing during radiation. Lumbar punctures and intrathecal chemotherapy were deferred until completion of radiation. Biopsy of residual abdominal masses following consolidation 1 showed <5% viable cells and therapy was intensified to ANHL1331, Group C1. Evaluation of both lesions identified hypermutation (mutational burden > 150mutations/Mb). Two unique germline mutations of PMS2 were also identified, consistent with Lynch syndrome. After completion of above therapy, the patient received maintenance therapy with nivolumab checkpoint inhibition. The patient developed severe neutropenia leading to cessation of nivolumab and quick progression of his HGG. CONCLUSION Synchronous tumors pose significant treatment dilemmas given the need to treat multiple lesions while balancing side effects. While checkpoint inhibitors may provide a way to address multiple lesions, our patient had unacceptable side effects limiting the utility of this therapy.

Correlations Between the Neutrophil-Lymphocyte Ratio, Platelet-Lymphocyte Ratio, and Serum Lipid Fractions With Neovascular Age-Related Macular Degeneration.

Introduction Age-related macular degeneration, a chronic and progressive disease, is one of the leading causes of vision loss globally among the elderly population. Multiple hypotheses have been proposed regarding its pathogenesis, including the presence of lipid metabolism alteration. Dysfunctional lipid handling within retinal pigment epithelial cells has been implicated in the accumulation of lipofuscin and subsequent induction of oxidative stress and inflammation, all contributing to retinal degeneration. The present study aims to comparatively analyze the serum lipid fractiondistributions in patients with neovascular age-related macular degeneration (AMD) and controls. Materials and methods A retrospective study was carried out between January 2021 and December 2023 on 91 naïve patients with neovascular AMD and 90 controlsadmitted for routine cataract surgery. All subjects underwent a comprehensive ophthalmological exam, including ophthalmoscopy and optical coherence tomography (OCT) with central macular thickness (CMT) measurement. A complete blood count with differential and lipid fractions values was analyzed. The neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) were comparatively analyzed between the control group and the test group. Results The groups were comparable in terms of age (73.84 ±7.52 years for the neovascular AMD group vs 72.1±10.92 years in controls; p=0.8) and gender distribution (p=0.243). The mean NLR and PLR values were slightly higher in the AMD groupbut not statistically significant (p=0.51, p>0.99, respectively). Comparative analysis of lipid profile fractions showed significantly higher HDL-C values in the exudative AMD group compared to normal subjects (61.27±19.4 mg/dL vs 50.99±7.86 mg/dL, p=0.006). Also, the proportion of subjects with HDL-C>60 mg/dL was higher in the exudative AMD group (p=0.014). There were no significant differences in total cholesterol (189.77±53.39 mg/dL vs 190.43±37.84 mg/dL, p=0.681), LDL-C, and TG. Logistic regression analysis showed that serum HDL-C and HDL-C values >60 mg/dL are significantly associated factors with neovascular AMD. However, there is no statistical correlation between the values of these biochemical parameters and visual acuity or CMT in the neovascular AMD patient group. Conclusions There were no correlations between NLR and PLR with neovascular AMD in the study group. Higher HDL-C valuesexceeding 60 mg/dL were associated with neovascular age-related macular degeneration and could represent a possible therapeutic target in neovascular AMD.

Endoscopic endonasal resection of symptomatic Rathke's cleft cysts: outcomes of the strategy to maintain the fenestration open.

The study intends to clarify the optimal endoscopic endonasal surgical strategy for symptomatic Rathke's cleft cysts (RCCs). We retrospectively analyzed patients with RCCs that underwent EEA surgery. The strategy for surgical and reconstruction method selection was presented. Patients were split into groups of fenestration open or closed. Pre- and postoperative symptoms, imaging, ophthalmologic, and endocrinologic exams were reviewed. The incidence of complications and the recurrence rates were determined. The 75 individuals were all received primary operations. The fenestration closed group contained 32 cases, while the fenestration open group contained 43 cases. The median follow-up period was 39 months. The three primary complaints were headache (n = 51, 68.00%), vision impairment (n = 45, 60.00%), and pituitary dysfunction (n = 16, 21.33%). Of the 51 patients with preoperative headaches, 48 (94.12%) reported improvement in their symptoms following surgery. Twenty-three out of 45 patients (51.11%) experienced an improvement in visual impairment. Pituitary dysfunction was found improved in 14 out of 16 individuals (87.50%). There was no discernible difference in the rate of symptom alleviation between both groups. There were three patients (3/75, 4.00%) had cyst reaccumulation. One of them (1/75, 1.33%), which needed reoperation, was healed using pterional approach. In term of complications, cerebral infections occurred in two patients (2/75, 2.67%). Both of them recovered after antibiotic treatment. No postoperative cerebrospinal fluid rhinorrhea occurred. One patient (1/75, 1.33%) in the open group experienced epistaxis. There was no persistent hypopituitarism or diabetes insipidus (DI). Analysis of headache related factors showed that the presence of wax like nodules was related to it. RCC was successfully treated with endoscopic endonasal surgery with few problems when the fenestration was kept as open as feasible. Preoperative identification of T2WI hypointense nodules may be a potential reference factor for surgical indication.

The Riddle of the Double Vision-A Rare Case of Intracranial Tumor: When Imaging Resolves the Mystery.

A 77-year-old-man with arterial hypertension, diabetes mellitus type II presented at our clinic for a routine ophthalmological exam. He complained of intermittent double vision. The ophthalmic examination revealed paralysis of III (n. oculomotorius) and VI (n. abducens) cranial nerves with ptosis, deficit in elevation and abduction of the left eye. The patient underwent urgent MRI imaging of the brain/orbits and paranasal sinuses, and urgent neurological assessment. MRI revealed a volume-occupying process, starting from the posterior wall of the left maxillary sinus with perineural diffusion and involvement of the homolateral trigeminal nerve, intracranial spread in the medial cranial fossa and involvement of the cavernous, sphenoidal sinuses and the orbital apex on the left side. Biopsy was performed, and the histology resulted in sinonasal squamous cell carcinoma with intracranial spread.

Equine keratomycosis due to Aspergillus flavus in Argentina

A 9-year-old gelding presented a corneal ulcer unresponsive to treatment in his right eye. The trauma was caused by vegetal material. The ophthalmologic exam revealed paraxial corneal opacity, whitish discharge, peripheral oedema, congestion of conjunctival vessels and corneal angiogenesis. Microscopic examination of smears revealed the presence of neutrophils and fungal hyphae. On day 3 of culture, several small white fluffy colonies that rapidly turned to pale green were detected. These colonies were isolated to study their micro and macromorphology. Microscopic examination revealed the presence of colourless, thick-walled, roughened conidiophores, ranging from 340 to 1650 μm in length, with globose to sub-globose vesicles, ranging from 22 to 48 μm in diameter. Vesicles had one or two series of phialides. Conidia were globose, olive-green with slightly rough, thin walls that ranged from 3 to 7 μm in diameter. Molecular identification was also performed. Both techniques confirmed the presence of Aspergillus flavus complex. Topical treatment with natamycin resulted in healing within 10 days. To our knowledge, this is the first case of equine keratomycosis reported in Argentina.

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome

PurposeMarfan syndrome (MFS) is a connective tissue disorder caused by mutations in the FBN1 gene. In addition to typical phenotypes such as ectopia lentis and aortic dilation, MFS patients are prone to ocular posterior segment abnormalities, including retinal detachment, maculopathy, and posterior staphyloma. This study aims to investigate the correlations between FBN1 genotype and posterior segment abnormalities within a Chinese cohort of MFS. DesignRetrospective study. Participants121 eyes of 121 patients with confirmed FBN1 mutations between January 2015 and May 2023 were included. MethodsComprehensive ophthalmological exam findings were reviewed, and the incidence of retinal detachment, atrophic / tractional / neovascular maculopathy (ATN classification system) and posterior staphyloma was analyzed between different genotype groups. Only the more severely affected eye from each patient was included. Main outcome measuresClinical features and risk factors. ResultsOut of 121 patients, 60 eyes (49.59%) exhibited posterior segment abnormalities, including retinal detachment (4, 3.31%), maculopathy (47, 38.84%), and posterior staphyloma (54, 44.63%). The mean age was 11.53 ± 11.66 years, with 79.34% of patients below 20 years old. The location and region of mutations were found to be associated with the incidence of maculopathy (P = 0.013, P = 0.033) and posterior staphyloma (P = 0.043, P = 0.036). Mutations in the middle region had a lower incidence of maculopathy and posterior staphyloma (P = 0.028 and P = 0.006, respectively) than those in C-terminal region. Mutations in the TGF-β regulating sequence exhibited a higher incidence of maculopathy and posterior staphyloma (P = 0.020, P = 0.040). Importantly, the location and region of mutations were also associated with the incidence of atrophic maculopathy (P = 0.013 and P = 0.033, respectively). Mutations in the middle region had a significantly lower probability of atrophic maculopathy (P = 0.006), while mutations in the TGF-β regulating sequence had a higher incidence of atrophic maculopathy (P = 0.020). ConclusionMaculopathy and posterior staphyloma were associated with the location and region of FBN1 mutations. Patients with mutations in the TGF-β regulating sequence faced an increased risk of developing retinopathy.

Performance of Google's Artificial Intelligence Chatbot "Bard" (Now "Gemini") on Ophthalmology Board Exam Practice Questions.

To assess the performance of "Bard," one of ChatGPT's competitors, in answering practice questions for the ophthalmology board certification exam. In December 2023, 250 multiple-choice questions from the "BoardVitals" ophthalmology exam question bank were randomly selected and entered into Bard to assess the artificial intelligence chatbot's ability to comprehend, process, and answer complex scientific and clinical ophthalmic questions. A random mix of text-only and image-and-text questions were selected from 10 subsections. Each subsection included 25 questions. The percentage of correct responses was calculated per section, and an overall assessment score was determined. On average, Bard answered 62.4% (156/250) of questions correctly. The worst performance was 24% (6/25)on the topic of "Retina and Vitreous," and the best performance was on "Oculoplastics," with a score of 84% (21/25). While the majority of questions were entered with minimal difficulty, not all questions could be processed by Bard. This was particularly an issue for questions that included human images and multiple visual files. Some vignette-style questions were also not understood by Bard and were therefore omitted. Future investigations will focus on having more questions per subsection to increase available data points. While Bard answered the majority of questions correctly and is capable of analyzing vast amounts of medical data, it ultimately lacks the holistic understanding and experience-informed knowledge of an ophthalmologist. An ophthalmologist's ability to synthesize diverse pieces of information and draw from clinical experience to answer complex standardized board questions is at present irreplaceable, and artificial intelligence, in its current form, can be employed as a valuable tool for supplementing clinicians' study methods.

ChatGPT-3.5 and Bing Chat in ophthalmology: an updated evaluation of performance, readability, and informative sources.

Experimental investigation. Bing Chat (Microsoft) integration with ChatGPT-4 (OpenAI) integration has conferred the capability of accessing online data past 2021. We investigate its performance against ChatGPT-3.5 on a multiple-choice question ophthalmology exam. In August 2023, ChatGPT-3.5 and Bing Chat were evaluated against 913 questions derived from the Academy's Basic and Clinical Science Collection collection. For each response, the sub-topic, performance, Simple Measure of Gobbledygook readability score (measuring years of required education to understand a given passage), and cited resources were collected. The primary outcomes were the comparative scores between models, and qualitatively, the resources referenced by Bing Chat. Secondary outcomes included performance stratified by response readability, question type (explicit or situational), and BCSC sub-topic. Across 913 questions, ChatGPT-3.5 scored 59.69% [95% CI 56.45,62.94] while Bing Chat scored 73.60% [95% CI 70.69,76.52]. Both models performed significantly better in explicit than clinical reasoning questions. Both models performed best on general medicine questions than ophthalmology subsections. Bing Chat referenced 927 online entities and provided at-least one citation to 836 of the 913 questions. The use of more reliable (peer-reviewed) sources was associated with higher likelihood of correct response. The most-cited resources were eyewiki.aao.org, aao.org, wikipedia.org, and ncbi.nlm.nih.gov. Bing Chat showed significantly better readability than ChatGPT-3.5, averaging a reading level of grade 11.4 [95% CI 7.14, 15.7] versus 12.4 [95% CI 8.77, 16.1], respectively (p-value < 0.0001, ρ = 0.25). The online access, improved readability, and citation feature of Bing Chat confers additional utility for ophthalmology learners. We recommend critical appraisal of cited sources during response interpretation.

Anterior Segment Optical Coherence Tomography in Uveitis-Glaucoma-Hyphema Syndrome

ABSTRACT Purpose Uveitis-Glaucoma-Hyphema (UGH) syndrome results from contact between the intraocular lens (IOL) and the iris or ciliary body, leading to uveal structure erosion and blood-aqueous barrier breakdown. Treatment involves various drugs, with IOL removal often being necessary. Diagnosis relies on clinical signs, but imaging techniques like ultrasound biomicroscopy (UBM) or anterior segment optical coherence tomography (AS-OCT) are crucial. AS-OCT accurately depicts IOL position and potential contact, emerging as a primary alternative to UBM in the diagnosis. Our study aimed to correlate AS-OCT findings with clinically detectable iris atrophy in pseudophakic patients with IOL-iris chafing and UGH syndrome. Methods The study retrospectively analyzed patients diagnosed with UGH syndrome presenting at the Ocular Immunology Unit of Reggio Emilia, Italy, from January 2019 to August 2023. Patients’ data were collected. Ophthalmological exams and imaging were performed. The peephole sign in AS-OCT images was evaluated. Statistical analyses were conducted, with a significance level of p ≤ 0.05. Results The study reviewed 22 eyes of 22 patients with UGH syndrome. Four eyes were excluded, leaving 18 patients (8 females, 10 males). Common misdiagnoses included idiopathic anterior uveitis (55.5%) and herpetic anterior uveitis (16.7%). All patients had iris transillumination defects, mostly focal (77.8%). AS-OCT revealed IOL chafing in all the eyes, with peephole sign correlation. More peephole signs occurred with IOL in the sulcus (p-value = 0.08). Conclusion The study recommends AS-OCT for UGH syndrome confirmation and UBM when IOL-iris chafing is not observed on AS-OCT scans.

Unusual Presentation of Lipemia Retinalis Presented with Visual Field Defect

Introduction : Lipemia retinalis is an ocular presentation that associated to hypertriglyceridemia. Most cases are usually asymptomatic, with changes detected only from fundus examination. This case report highlights a case of lipemia retinalis with decreased peripheral visual field.&#x0D; Case Illustration : Thirty four year-old female came with complaint of blurry right eye (RE) 3 months before hospital visit, especially on inferotemporal part of her right eye. She had history of diabetes mellitus and hypertriglyceridemia. Her sister also has known history of hypertriglyceridemia. Ophthalmological examination revealed 6/6 visual acuity on both eyes, with normal anterior segment of both eyes. Fundus examination showed creamy retinal vessels on both eyes. Humphrey perimetry result showed inferotemporal visual field defect of RE. At time of visit, triglyceride level was 1440 mg/dL. Patient was prescribed fenofibrate 1x300 mg daily by Endocrinology Department. After 6 months of fenofibrate therapy, serum triglyceride level was decreasing to 185 mg/dL. Ophthalmology exam revealed a significant decrease of creamy white vessel on right eye and normal vessel of left eye. Humphrey perimetry showed decreased visual field defect&#x0D; Discussion : Hypertriglyceridemia can result from familial or secondary to systemic diseases. Creamy vessel appearance in lipemia retinalis is resulted from presence of triglyceride-laden chylomicrons in the plasma. Lipemia retinalis rarely manifests with reduced peripheral vision, which is presented in this case.&#x0D; Conclusion : Lipemia retinalis is often overlooked due to its asymptomatic nature. Prompt recognition might be live saving from life-threatening condition resulting from hypertriglyceridemia. Triglyceride- lowering drug therapy is very useful in improving peripheral field defect as presented in our case report.

Twists in genetic mitochondria: Unraveling a case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes overlapping with myoclonic epilepsy with ragged red fibers

This case report presents a 23-year-old female with a complex medical history, initially diagnosed with juvenile myoclonic epilepsy, later discovered to have the m.3243A&gt;G variant associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Despite a typical myoclonic epilepsy with ragged red fibers (MERRF) phenotype, genetic testing confirmed a singular MELAS mutation. The patient exhibited diverse symptoms, including seizures, chronic migraines, myoclonus, and visual disturbances. Diagnostic studies revealed basal ganglia calcifications and progressive brain MRI abnormalities consistent with mitochondrial dysfunction. Additionally, ophthalmologic exams identified features indicative of MELAS pigmentary retinopathy. The discussion highlights the clinical and genetic diversity of mitochondrial disorders, emphasizing the challenges in distinguishing overlapping phenotypes. The patient’s mitochondrial DNA heteroplasmy influenced the variable onset and severity of symptoms. The case underscores the importance of comprehensive genetic investigations, as the m.3243A&gt;G variant is associated with both MELAS and MERRF, leading to diagnostic complexities. Management strategies, primarily symptom-focused due to the lack of a standardized treatment approach, include prophylactic arginine, taurine, and coenzyme Q10 supplementation. The patient’s response to various medications, including vagal nerve stimulator placement, Botox injections, and novel treatments like ASP0367, demonstrates the ongoing efforts to address symptoms and improve quality of life. This report contributes to the understanding of mitochondrial overlap syndromes, offering insights into the diagnostic challenges and management complexities associated with MELAS and MERRF. The case underscores the need for a multidisciplinary approach, combining clinical, genetic, and therapeutic considerations, to optimize care for individuals with mitochondrial encephalopathies.

Feasibility of clinical examination scenarios under pandemic conditions

Due to the COVID-19 pandemic, contact restrictions occurred worldwide, which affected medical schools as well. It was not possible to hold classroom lectures. Teaching contents had to be converted to adigital curriculum within avery short time. Conditions for assessments posed an even greater challenge. For example, solutions had to be found for objective structured clinical examinations (OSCE), which were explicitly forbidden in some German states. The aim of this study was to evaluate the feasibility of an OSCE under pandemic conditions. At the end of the 2020 summer semester, 170students completed acombined otolaryngology and ophthalmology OSCE. Examinations were held in small groups over the course of 5days and complied with strict hygiene regulations. The ophthalmology exam was conducted face to face, and the ENT OSCE virtually. Students were asked to rate the OSCE afterwards. Between 106 and 118 of the students answered the questions. Comparing the face-to-face OSCE with the virtual OSCE, about 49% preferred the face-to-face OSCE and 17% preferred the virtual OSCE; 34% found both variants equally good. Overall, the combination of an ENT and ophthalmology OSCE was rated as positive. It is possible to hold an OSCE even under pandemic conditions. For optimal preparation of the students, among other things, it is necessary to transform teaching contents to adigital curriculum. The combination of an ENT and ophthalmology OSCE was positively evaluated by the students, although the face-to-face OSCE was preferred. The overall high satisfaction of the students confirms the feasibility of avirtual examination with detailed and well-planned preparation.

IV Thrombolysis for central retinal artery occlusion – Real-world experience from a comprehensive stroke center

ObjectivesCentral retinal artery occlusion (CRAO) is a stroke of the retina potentially amenable to intravenous thrombolysis (IVT). We aimed to determine feasibility of an emergency treatment protocol and risk profile of IVT for CRAO in a comprehensive stroke center (CSC). MethodsWe performed a retrospective, observational cohort study including patients with acute CRAO admitted to a CSC over 4 years. Patients are offered IVT if they present with acute vision loss of ≤ 20/200 in the affected eye, have no other cause of vision loss (incorporating a dilated ophthalmologic exam), and meet criteria akin to acute ischemic stroke. We collected socio-demographic data, triage data, time from onset to presentation, IVT candidacy, and rates of symptomatic intracranial hemorrhage (sICH)- or extracranial hemorrhage. Results36 patients presented within the study period, mean (standard deviation (SD)) age of 70.7 (10), 52 % female, and median time (Q1, Q3) to ED presentation of 13.5 (4.3, 18.8) h. Patients within 4.5 h from onset presented more commonly directly to our ED (66.6 % vs 37.1 %, p = 0.1). Nine patients (25 %) presented within the 4.5 h window. Of those eligible, 7 (77 %) received IVT. There were no events of intracranial or extracranial hemorrhage. ConclusionsOur study confirmed that IVT for acute CRAO is feasible. We found a high rate of treatment with IVT of those eligible. However, because 75 % of patients presented outside the treatment window, continued educational efforts are needed to improve rapid triage to emergency departments to facilitate evaluation for possible candidacy with IVT.

Retinal Ganglion Cell Functional Recovery after Intraocular Pressure Lowering Treatment Using Prostaglandin Analogs in Glaucoma Suspects: A Prospective Pilot Study.

To evaluate the ability of pattern electroretinogram (PERG) to detect improvement of retinal ganglion cell (RGC) function in glaucoma suspects (GS) after medically reducing intraocular pressure (IOP) using prostaglandin analog drops. Six subjects (eight eyes) received topical IOP lowering treatment based on their clinical examination and were observed at Manhattan Eye, Ear & Throat Hospital over an average of 3.1 ± 2.2 months. During this time, participants underwent a full ophthalmologic exam and were evaluated with a Humphrey visual field analyzer (HFA) 24-2 [24-2 mean deviation (MD), 24-2 pattern standard deviation (PSD), and 24-2 visual field indices (VFI)], Diopsys NOVA PERG optimized for glaucoma [magnitude (Mag), magnitudeD (MagD), and magnitudeD/magnitude ratio (MagD/Mag ratio)] and optical coherence tomography (OCT)-derived average retinal nerve fiber layer thickness (avRNFLT) and average ganglion cell layer + inner plexiform layer (avGCL + IPL) thicknesses at baseline visit (pretreatment) and 3 months later (posttreatment). Goldman applanation tonometry was used to measure IOP at each visit. Paired sample t-tests were conducted to determine the statistical significance of the change in IOP, HFA indices, PERG parameters, and OCT thickness measurements between the two visits. Lowering IOP by 22.29% resulted in a significant increase (32.98 and 15.49%) in MagD [t (7) = -3.174, 95% confidence interval (CI) = -0.53, -0.08, p = 0.016] and MagD/Mag ratio [t (7) = -3.233, 95% CI = -0.20, -0.03, p = 0.014], respectively. There was a positive percentage change for all variables of interest, however, 24-2 MD, Mag, avRNFLT, and GCL+ IPLT did not reach statistical significance. After reducing IOP by 22.29% for a duration of 3.1 months, the PERG parameters, MagD and MagD/Mag ratio, significantly improved by 32.98 and 15.49%, respectively. Pattern electroretinogram (PERG) may be a crucial tool for clinicians to locate a window of opportunity in which degenerating yet viable RGCs could be rescued from irreversible damage. We suggest consideration of PERG as a tool in early retinal ganglion cell (RGC) dysfunction detection as well as for monitoring IOP lowering treatment. Tirsi A, Gliagias V, Sheha H, et al. Retinal Ganglion Cell Functional Recovery after Intraocular Pressure Lowering Treatment Using Prostaglandin Analogs in Glaucoma Suspects: A Prospective Pilot Study. J Curr Glaucoma Pract 2023;17(4):178-190.

Pinealoma Masquerading as Post-Epidural Spinal Injection Dural Tear/Side Effect in a Patient with Chronic Back Pain

Introduction: Pineal gland neoplasms are uncommon, accounting for less than 1% of adult brain tumors. The variable morphology, radiological characteristics, and symptomatic manifestations further complicate the prompt diagnosis and management [1]. Symptoms commonly arise from the tumor’s mass effect with compression of surrounding structures (e.g., headaches, nausea, vomiting, blurry vision, vertigo, fatigue) and may further induce obstructive hydrocephalus and Parinaud’s syndrome [2]. However, with Non-Specific or atypical pinealoma presentation, overlapping medical history suggestive of alternative etiologies may obscure the underlying diagnosis and delay appropriate workup and treatment. Case Presentation: We present a 41-year-old man with a history of chronic lower back pain and lumbar disc herniation presenting with worsening fatigue, cognitive lapses, and gait issues for three to four weeks, as well as nausea, vomiting, and blurry vision for the last three days. One month ago, the patient underwent bilateral L5-S1 transforaminal epidural steroid injection for lumbar radiculopathy and discogenic pain, which resolved the pain. Presentation appeared consistent with dural tear secondary to recent epidural injection. Brain imaging was obtained in the setting of altered mental status and neurologic symptoms. MRI showed a 17mm enhancing pineal mass with associated supratentorial obstructive hydrocephalus, with grade 1 papilledema found on ophthalmologic exam. CT chest/abdomen/pelvis was negative for primary lesions. Six days after initial presentation, the patient underwent an endoscopic third ventriculostomy for pineal tumor biopsy, and CSF collection for hydrocephalus treatment. The patient tolerated the procedure well without complications, was deemed medically and neurologically stable, and was discharged two days post-operatively. He continued to have lapses in judgment, fatigue, and double vision, and underwent a full craniotomy three weeks after discharge, which revealed a vermis lesion. Pathological report revealed a high-grade glioma. Conclusion: Unintentional dural tears occur in 1-3% of epidural spinal injections, commonly presenting as headaches, nausea, vomiting, and dizziness/ataxia [3]. However, this case highlights the need for clinical suspicion of alternative causes for similar presentation and the utility of further workup.