Acute Bilateral Visual Loss Research Articles

Orbital Myositis Leading to Compressive Optic Neuropathy after COVID-19 mRNA Vaccination: A Case Report

Purpose: We present a case of bilateral compressive optic neuropathy secondary to orbital myositis after COVID-19 messenger ribonucleic acid (mRNA) vaccination.Case summary: A 51-year-old man developed acute bilateral visual loss and painful ophthalmoplegia shortly after receiving the second dose of the BNT162b2 COVID-19 mRNA vaccine (Comirnaty, Pfizer®, New York, NY, USA). His best-corrected visual acuity was counting fingers at 30 cm and 50 cm in the right and left eyes, respectively. Bilateral eyelid swelling, erythema, conjunctival injection, and color vision deficit were observed. Orbital magnetic resonance imaging revealed diffuse enhancement and hypertrophy of the bilateral extraocular muscles. The patient had no significant ophthalmic history and systemic work-up revealed no evidence of underlying inflammatory disease. Based on the clinical presentation and imaging findings, he was tentatively diagnosed with bilateral compressive optic neuropathy secondary to orbital myositis after COVID-19 mRNA vaccination. He was treated with intravenous corticosteroids for 3 days followed by low-dose oral corticosteroids. One month later, his visual acuity and color vision improved; moreover, the inflammatory signs in the eyelids, conjunctiva, and extraocular muscles resolved. However, after developing COVID-19, he experienced a recurrence of symptoms and was retreated with corticosteroids. Radiotherapy was administered to address persistent color vision deficit in the right eye and recurrent eyelid edema, erythema, and conjunctival injection. This treatment effectively resolved all inflammatory signs and color vision deficits, without signs of recurrence.Conclusions: Acute fulminant orbital myositis with associated compressive optic neuropathy can manifest after COVID-19 mRNA vaccination and onset of COVID-19. Anti-inflammatory treatment measures can effectively control these manifestations.

Bilateral vision loss with cranial nerve paralysis, revealing ischaemic pituitary apoplexy and acromegaly: A case report

Pituitary Apoplexy (PA) is a potentially fatal clinical condition resulting from ischaemic or haemorrhagic infarction of the pituitary gland. The ischaemic subtype is even rarer and more severe. We present the case of a 26-year-old female patient who presented with headache, acute bilateral visual loss, fever, confusion, asthenia with classic features of acromegaly, and pupils with bilateral areactive mydriasis without light perception bilaterally with cranial nerve involvement. Magnetic Resonance Imaging (MRI) confirmed the presence of a pituitary macroadenoma, and endocrine investigations revealed panhypopituitarism. The patient underwent transsphenoidal evacuation and the diagnosis of ischaemic PA was confirmed by histology. Three months later, a follow-up MRI showed an empty bowel with remission of acromegaly, diabetes and mild unilateral visual recovery. Our case highlights the importance of considering ischaemic PA among the possible aetiologies of sudden cranial nerve deficits then early diagnosis and treatment are essential to improve outcome.

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

BackgroundKlippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system.Case presentationThis case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel–Feil syndrome, with the typical clinical triad symptoms of Klippel–Feil syndrome, along with Sprengel’s deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained.ConclusionThis case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel–Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

Acute Bilateral Painless Vision Loss in a Pediatric Patient With Infective Endocarditis

Infective endocarditis (IE) is a complex cardiac condition with a myriad of systemic complications, affecting approximately 5% of patients with ocular manifestations. This report details a rare and severe presentation of IE, marked by the acute onset of bilateral vision loss attributed to central retinal arterial occlusion (CRAO) and posterior ischemic optic neuropathy (PION), both critical conditions resulting from vascular impairments associated with IE. CRAO, characterized by the sudden obstruction of blood flow to the retina, leads to rapid vision deterioration, showcasing the critical impact of vascular emboli originating from infective endocardial lesions. On the other hand, PION, a less common vascular disorder, affects the posterior segment of the optic nerve, typically sparing the optic disc from edema but resulting in significant visual impairment. This case emphasizes the importance of recognizing ocular symptoms in patients with IE, as early detection and intervention are vital for managing these rare but devastating complications.

Bilateral Cerebral Venous Thrombosis with a Rare Presentation in a COVID-19 Patient: A Case Report

AbstractSince the COVID-19 pandemic started, millions of peoples are involved. The presentation of the disease varies from mild respiratory symptoms and multiple organ failure to coma and death. Neurological symptoms such as headache or seizure are also coincident with COVID-19. Thromboembolic events increase in COVID-19 patients due to hypercoagulability and inflammation, particularly in severely ill patients. Thrombosis may cause venous thrombosis, pulmonary embolism, or cerebral sinus venous thrombosis (CSVT). Cerebral sinus venous thrombosis is a rare phenomenon that is usually found in critically ill patients with bad prognoses. In the present case report, we present a 40-year-old man with COVID-19 confirmed by real-time polymerase chain reaction (RT-PCR) who was admitted due to acute bilateral visual loss due to bilateral transverse sinus thrombosis. Pseudotumor cerebri disease was confirmed through high lumbar puncture. Early surgical intervention (optic nerve fenestration) was performed and, fortunately, his visual acuity improved. Cerebral sinus venous thrombosis is a rare incident in COVID-19 patients, but due to irreversible complications, an early diagnosis is fundamental. In any neurologic change in COVID-19 patients, CSVT must be considered. Also, prophylactic thrombolytic therapy should be kept in mind as the patient is admitted.

Case report: A rare case of Epstein-Barr virus with ocular manifestation

Epstein-Barr virus (EBV), a herpes virus with a global prevalence exceeding 95%, is infrequently associated with ocular manifestations. We present a case of a 57-year-old Caucasian male who experienced acute bilateral vision loss following a preceding viral illness accompanied by fever. Initial corrected visual acuity was measured at 6/90, and imaging revealed bilateral retinal posterior pole and peripheral white spots, and hyper-reflective macular changes. Three weeks later, spontaneous improvement led to a visual acuity of 6/18, with minimal changes observed in the retinal disruption. Serology testing confirmed the presence of EBV antibodies. At the 6-month follow-up, the patient demonstrated further improvement with visual acuity of 6/12 and reduced foveal granularity. Remarkably, at the 19-month follow-up, the patient achieved near-complete resolution of vision to pre-infection levels, measuring 6/6 without receiving specific treatment. This case highlights a rare retinal manifestation of EBV characterized by an atypical presentation and underscores the significance of considering non-ocular causes when encountering unexplained vision loss.

Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures

To assess longitudinal relationships among visual function and anatomical measures of gene therapy in G11778A Leber hereditary optic neuropathy (LHON). Phase 1 clinical trial. This was a single-institution study of patients with G11778A LHON. Patients with chronic bilateral visual loss >12 months (group 1, n=11), acute bilateral visual loss <12 months (group 2, n=9), or unilateral visual loss (group 3, n=8) were administered unilateral intravitreal AAV2(Y444,500,730F)-P1ND4v2 injection with low, medium, high, and higher doses to worse eye for groups 1 and 2 and better eye for group 3. Oucome measures were best-corrected visual acuity (BCVA), visual field mean deviation (VF MD), steady-state pattern electroretinogram (SS-PERG), optical coherence tomography (OCT) retinal nerve fiber layer (RNFL) thickness and ganglion cell+inner plexiform layer (GCIPL) thickness, and National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) scores. Mean follow-up was 33.6 months (range=18-36 months). Baseline SS-PERG amplitude was much reduced in both eyes of all groups including asymptomatic eyes of group 3, and showed no appreciable changes irrespective of disease stage and treatment. Significant and progressive GCIPL and RNFL thinning occurred in all eyes; BCVA and VF MD fluctuated in treated and fellow eyes, with some eyes having modest improvement that may be related to natural history or to gene therapy. Mean NEI-VFQ-25 scores declined in group 3 subjects (P=.023), CONCLUSION: Asymptomatic eyes in LHON patients with unilateral visual loss may be beyond the window of effective neuroprotection given reduced GCIPL and SS-PERG. Randomization of patients to an untreated control group would help to assess treatment effect by accounting for variable natural history. NOTE: Publication of this article is sponsored by the American Ophthalmological Society.

Leber’s hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Leber’s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mutations in mitochondrial DNA (mtDNA) genes encoding subunits of complex I in the mitochondrial respiratory chain. The most common mutations causing LHON are G11778A, G3460A and T14484C, but there are also several less common mutations. LHON presents as acute or subacute bilateral visual loss, usually affecting young males. The aim of this study was to assess the clinical symptomatology and genetic analysis of Bulgarian patients with LHON. Twenty-two patients were diagnosed with LHON based on clinical evaluation and genetic examination (17 males and 5 females); 12 of them were previously reported, while 8 males and 2 females are newly diagnosed. A full neuroophthalmologic and genetic examination was performed. Eight patients had a family history of LHON, while 14 were isolated cases. The age at onset ranged from 3 to 43 years, and visual acuity ranged from counting fingers to 0.9. Genetic testing revealed various mutations, including a rare mutation G3635A in MT-ND1 in five affected members of one pedigree and digenic inheritance of G11778A and T14484C in three individuals from a different family. A variant m.15988A > G in the mitochondrial gene MT-TP with a high level of heteroplasmy was found in one patient. In addition to the most common mutations causing LHON, our patients also had rare mutations. These results suggest that genetic analysis of the entire mtDNA sequence is recommended in cases with strong clinical suspicion of LHON, since new rare mtDNA pathogenic variants are being identified.

Bilateral Lateral Geniculate Body Infarction: A Systematic Review (P6-5.028)

<h3>Objective:</h3> To present a unique case of acute onset bilateral painless vision loss due to bilateral hemorrhagic infarction of the lateral geniculate bodies (LGB) and to conduct a systematic literature review to better understand the underlying pathophysiology. <h3>Background:</h3> Bilateral lateral geniculate body (LGB) infarct is an exceedingly rare cause of acute bilateral painless vision loss. A descriptive case report is presented on a 17-year old female diagnosed with acute pancreatitis who developed acute onset bilateral painless vision loss. <h3>Design/Methods:</h3> The systematic literature review was conducted on September 24th, 2022 in PubMed/PubMed Central/MEDLINE, ScienceDirect, and Scopus electronic databases. The following search string: ‘(lateral geniculate bod* OR lateral geniculate nucle*) AND (bilateral hemorrhagic infarct* OR bilateral ischemic infarct*). The review was prospectively registered on PROSPERO (Registration ID:CRD42022362491). <h3>Results:</h3> The reported 17-year old female was found to have purtscher-like retinopathy on fundoscopic evaluation as well as MRI findings consistent with bilateral hemorrhagic infarction of the LGB. A systematic literature review yielded 18 records for analysis. 15/18 (83.3%) of reported cases occurred in females. Bilateral vision loss was seen in all cases. Gastrointestinal pathology (i.e. pancreatitis, gastroenteritis, etc.) was seen in 7/18 (38.8%) of cases. Other reported causes include H1N1 influenza, extrapontine myelinolysis, preeclampsia, hysterectomy, methanol toxicity, traumatic brain injury, syphilitic arteritis, Behçet’s disease, and anaphylactic shock. All cases had MRI findings consistent with lesions to the bilateral LGB. 7/18 (38.8%) cases had neuroimaging or pathological evidence of hemorrhagic infarction of the LGB. <h3>Conclusions:</h3> Bilateral LGB infarction is a rare cause of vision loss. A systematic literature review and analysis of 18 cases revealed that it can concur due to a multitude of etiologies. It is often associated with an underlying inflammatory, coagulopathic, hypotensive, or osmotic pathology. Most reported cases are in females and occur due to a gastrointestinal etiology (i.e. acute pancreatitis, gastroenteritis, post-ERCP). <b>Disclosure:</b> Dr. Henninger has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Astrocyte Pharmaceuticals, Inc.. The institution of Dr. Henninger has received research support from DoD. The institution of Dr. Henninger has received research support from NIH. Dr. Srichawla has nothing to disclose. Dr. Catton has nothing to disclose. Dr. Lichtenberg has nothing to disclose.

Progressive Longitudinally Extensive Myelopathy following Stroke in a Patient later found to have m.14484T&gt;C Mutation in Leber’s Hereditary Optic Neuropathy (LHON) gene. (P5-8.008)

<h3>Objective:</h3> To present a unique case of progressive myelopathy following stroke and its relationship to subsequently revealed LHON gene mutation (m.14484T&gt;C). <h3>Background:</h3> Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited mitochondrial disease associated with acute or subacute bilateral painless vision loss. LHON can also present with non-optic nerve disorders, including longitudinal myelopathy and increased risk of multiple sclerosis, known as LHON plus or LHON-MS. LHON plus presenting as longitudinal myelopathy without preceding optic neuropathy has been rarely reported. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A 66-year-old woman with history of hypertension suffered an acute right hemispheric subcortical stroke at age 63 with resultant left sided hemiparesis. Months afterwards she began to experience progressive bilateral sensory symptoms and worsening hemiparesis, initially resembling Brown-Sequard syndrome. MRI demonstrated exuberant Wallerian degeneration of the corticospinal tract from the site of her stroke, extending through the brainstem to contralateral spinal cord. Extensive autoimmune, neoplastic, ischemic, and metabolic workups were largely unrevealing, aside from elevated ANA and vitamin B12 deficiency. Over the ensuing two years symptoms progressed to near-complete sensory loss of the lower extremities, right sided weakness, and ultimately development of orthopnea, intermittent diplopia, and dysphagia. This continued despite trials of high dose steroids and IVIG. MRI demonstrated new lesions in the contralateral medulla, bilateral posterior and lateral columns, and atrophy in previously affected areas. Whole exome sequencing revealed pathogenic homoplasmic m.14484T&gt;C mutation in the MT-ND6 gene. Patient has never endorsed visual loss. <h3>Conclusions:</h3> This case adds to the few reports of myelopathy as the presenting feature of LHON. Unique in our patient is the absence of visual symptomatology after three years of disease onset, possibly expanding the spectrum of pathology resulting from MT-ND6 mutation. <b>Disclosure:</b> Dr. Eszes has nothing to disclose. Dr. Samkoff has nothing to disclose. Ms. Bontrager has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Muscular Dystrophy Association.

Acute bilateral vision loss after endovascular treatment of an intracranial aneurysm.

Acute bilateral vision loss (ABVL) is arare and challenging diagnostic issue that is most often caused by aneurological disorder. Since it can be the presenting symptom of potentially life-threatening diseases, priority should be given to excluding such diagnoses. Special caution is required if ABVL symptoms result after an intracranial intervention. This article reports on adiagnostic approach for apatient suffering from ABVL due to vitreous hemorrhage related to asubarachnoid hemorrhage (SAH) after endovascular intracranial aneurysm treatment. This case study highlights the importance of imaging interpretation and its consequences.

Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

BackgroundLeber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause of optic neuropathy through mitochondrial dysfunction. Here we evaluated the prevalence and clinical significance of vitamin B12 deficiency in a large cohort of LHON patients and asymptomatic mutation carriers from a tertiary referral center.MethodsFrom the Munich LHON prospective cohort study, participants included all LHON patients and asymptomatic LHON mutation carriers, who were recruited between February 2014 and March 2020 and consented to participate. Neurological, general, and ophthalmological examinations were regularly performed, as were laboratory tests. Vitamin B12 deficiency was diagnosed if serum vitamin B12 was below 201 pg/mL, or if 201–339 pg/mL plus low serum holotranscobalamin or elevated serum methylmalonic acid or elevated total plasma homocysteine.ResultsWe analyzed 244 subjects, including 147 symptomatic LHON patients (74% males) and 97 asymptomatic mutation carriers (31% males). Median age at study baseline was 34 years (range 5–82 years). The prevalence of vitamin B12 deficiency was higher for LHON mutation carriers than for the general population in all age categories. This was statistically significant for the LHON mutation carriers under 65 years (21% vs. 5–7%, p = 0.002). While vitamin B12 deficiency prevalence was not statistically different between LHON patients and asymptomatic mutation carriers, its clinical correlates, e.g., macrocytosis and polyneuropathy, were more frequent in the subgroup of LHON patients. Excessive alcohol consumption was a significant predictor of vitamin B12 deficiency (p < 0.05).ConclusionsThe high prevalence of vitamin B12 deficiency in LHON mutation carriers, both asymptomatic mutation carriers and LHON patients, highlights the need for regular vitamin B12 screening in this population, in order to ensure early treatment, aiming for better outcomes. Our study is not conclusive regarding vitamin B12 deficiency as determinant for disease conversion in LHON, and further research is warranted to disentangle the role of vitamin B12 in the pathophysiology and prognosis of LHON.

Acute-onset bilateral visual loss in the context of longstanding myasthenia gravis: don’t forget anti-aquaporin-4 antibodies!

Acute-onset visual loss is a medical emergency necessitating prompt and timely intervention to preserve vision and prevent further deterioration. Besides ocular pathologies, neurological conditions account for a significant proportion of cases of visual loss, particularly optic nerve pathologies including demyelinating or inflammatory optic neuritis. Inflammatory optic neuritis may cause unilateral or bilateral acute visual loss in isolation, as the first presentation of multiple sclerosis or neuromyelitis optica spectrum disorder, or in association with systemic autoimmune conditions. We hereby present a case of sequential bilateral anti-aquaporin-4 autoantibody-positive optic neuritis presenting as acute bilateral visual loss and initially diagnosed as temporal arteritis in a patient with longstanding myasthenia gravis. Our case highlights the importance of timely recognition of the possibility of optic neuritis when assessing acute visual loss, and the need for prompt initiation of corticosteroid therapy for residual vision preservation. It also illustrates the importance of maintaining awareness of possible neuromyelitis optica spectrum disorders and diligently testing for anti-aquaporin-4 antibodies in patients presenting with ocular symptoms in the context of co-existing autoimmune pathology and no other obviously attributable ophthalmological pathologies.

Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups

To assess safety of gene therapy in G11778A Leber hereditary optic neuropathy (LHON). Phase 1 clinical trial. Setting: single institution. Patients with G11778A LHON and chronic bilateral visual loss >12 months (group 1, n=11), acute bilateral visual loss <12 months (group 2, n=9), or unilateral visual loss (group 3, n=8). unilateral intravitreal AAV2(Y444,500,730F)-P1ND4v2 injection with low, medium, high, and higher doses to worse eye for groups 1 and 2 and better eye for group 3. Best-corrected visual acuity (BCVA), adverse events, and vector antibody responses. Mean follow-up was 24 months (range, 12-36 months); BCVAs were compared with a published prospective natural history cohort with designated surrogate study and fellow eyes. Incident uveitis (8 of 28, 29%), the only vector-related adverse event, resulted in no attributable vision sequelae and was related to vector dose: 5 of 7 (71%) higher-dose eyes vs 3 of 21 (14%) low-, medium-, or high-dose eyes (P < .001). Incident uveitis requiring treatment was associated with increased serum AAV2 neutralizing antibody titers (p=0.007) but not serum AAV2 polymerase chain reaction. Improvements of ≥15-letter BCVA occurred in some treated and fellow eyes of groups 1 and 2 and some surrogate study and fellow eyes of natural history subjects. All study eyes (BCVA ≥20/40) in group 3 lost ≥15 letters within the first year despite treatment. G11778A LHON gene therapy has a favorable safety profile. Our results suggest that if there is an efficacy effect, it is likely small and not dose related. Demonstration of efficacy requires randomization of patients to a group not receiving vector in either eye.

What's new in neuromyelitis optica spectrum disorder treatment?

Optic neuritis, an optic nerve inflammatory disease presenting with acute unilateral or bilateral visual loss, is one of the core symptoms of neuromyelitis optica spectrum disorder (NMOSD). The diagnosis of NMOSD-related optic neuritis is challenging, and it is mainly based on clinical presentation, optical coherence tomography, magnetic resonance imaging scans, and the status of serum aquaporin-4 antibodies. In the pathogenesis, aquaporin-4 antibodies target astrocytes in the optic nerves, spinal cord and some specific regions of the brain eliciting a devastating autoimmune response. Current pharmacological interventions are directed against various steps within the immunological response, notably the terminal complement system, B-cells, and the pro-inflammatory cytokine Interleukin 6 (IL6). Conventional maintenance therapies were off-label uses of the unspecific immunosuppressants azathioprine and mycophenolate mofetil as well as the CD20 specific antibody rituximab and the IL6 receptor specific antibody tocilizumab. Recently, four phase III clinical trials demonstrated the safety and efficacy of the three novel biologics eculizumab, inebilizumab, and satralizumab. These monoclonal antibodies are directed against the complement system, CD19 B-cells and the IL6 receptor, respectively. All three have been approved for NMOSD in the US and several other countries worldwide and thus provide convincing treatment options.

Acute Severe Bilateral Visual Loss as Presenting Symptom of COVID-19 Infection

Introduction: Coronavirus disease 2019 (COVID-19) has emerged as a pandemic and is accompanied by extraordinary morbidity and mortality. Critically ill COVID-19 patients have frequent thrombotic problems and laboratory evidence of hypercoagulability. The spectrum of presentations and complications of COVID-19 is still evolving. We describe a patient with unusual visual symptoms as the presenting signs of COVID-19. Case Presentation: In this case report, we describe a patient who presented with acute severe bilateral visual loss and headache. On neurological examination, cranial nerves were normal. There was no motor and sensorial abnormality. While the patient was in the emergency room, he was tested positive for COVID-19 via nasopharyngeal swab polymerase chain reaction (PCR) as part of COVID-19 surveillance. An unenhanced brain CT scan showed infarction in the occipital cortex bilaterally due to ischemic stroke involving the Posterior Cerebral Artery (PCA). A few hours later, oxygen saturation was 42%, and a sudden decline of consciousness was observed, progressing to coma. The neurosurgery intervention failed to change the patient's status, and he was pronounced dead in the next few hours. Conclusions: This case illuminates a wide range of COVID-19-related symptomatology and highlights the need for clinicians to be aware of different clinical appearances associated with this infection.

Acute bilateral vision loss in a toddler with stage 5 chronic kidney disease: Answers.

Acute bilateral vision loss in a toddler with stage 5 chronic kidney disease: Answers.

Acute bilateral vision loss in a toddler with stage 5 chronic kidney disease: Questions.

Acute bilateral vision loss in a toddler with stage 5 chronic kidney disease: Questions.

Idiopathic intracranial hypertension presenting as acute bilateral loss of vision

cute bilateral vision loss is a very rare presentation of idiopathic intracranial hypertension (IIH). We report the case of a 17-year-old female student who presented with a history of moderate degree headache from 7 days and severe loss of vision of 6 days duration. The vision loss initially affected the right eye and over the next 2 days, her left eye was also involved. Her visual acuity in both eyes was 6/60 and she had a relative afferent pupillary defect on the right side. Fundus examination showed bilateral papilledema and perimetry showed severe bilateral constriction of visual fields with the involvement of central areas as well. Cerebrospinal fluid opening pressure was raised and magnetic resonance imaging showed signs suggestive of IIH. She was managed with acetazolamide, topiramate, and lumbar drainage. She showed a gradual improvement in her vision, and finally, her visual acuity returned to normal.

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber\u2019s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

BackgroundLeber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young people. The causal LHON mutations of the mitochondrial DNA have incomplete penetrance, with the highest risk of disease manifestation for male mutation carriers in the second and third decades of life. Here we evaluated smoking, alcohol drinking habits, health-related quality of life (QOL) and psychiatric comorbidities in a cohort of LHON patients and asymptomatic mutation carriers from a tertiary referral centre.MethodsCross-sectional analysis of the ongoing Munich LHON prospective cohort study. Participants included all LHON patients and asymptomatic LHON mutation carriers older than 16 years at baseline, who were recruited between February 2014 and June 2015 and consented to participate. General, neurological and ophthalmological investigations were performed, including validated questionnaires on smoking, alcohol drinking habits, depressive symptoms and health-related QOL.ResultsSeventy-one participants were included, 34 LHON patients (82% male) and 37 asymptomatic mutation carriers (19% male). Median age at baseline was 36 years (range 18–75 years). For LHON patients, median age at visual loss onset was 27 years (9 to 72 years). Smoking is more frequent in LHON patients than asymptomatic LHON mutation carriers, and significantly more frequent in both groups than in the general population. Sixty percent of LHON patients, who smoked at disease onset, stopped or significantly reduced smoking after visual loss onset, yet 40% of LHON patients continued to smoke at study baseline. Excessive alcohol consumption is more frequent in male LHON patients than in LHON asymptomatic and more frequent than in the male general population. Further, female asymptomatic LHON mutation carriers are at risk for depression and worse mental QOL scores.ConclusionsGiven the high prevalence of smoking and excessive drinking in LHON mutation carriers, implementing effective measures to reduce these risk factors may have a significant impact in reducing LHON disease conversion risk. The underrecognized prevalence of mental health issues in this population of LHON mutation carriers highlights the need for awareness and more timely diagnosis, which may lead to improved outcomes.