[Pathogenetic basis of optic nerve atrophy in methanol poisoning]. / Patogeneticheskie osnovy razvitiya atrofii zritel'nogo nerva pri toksicheskom porazhenii metanolom.

Optic nerve atrophy is a pathomorphological consequence of diseases of the peripheral neuron of the visual pathway, manifested as atrophy of nerve fibers of varying severity. The toxic effect of methanol is mainly associated with formic acid and formaldehyde, which suppress the cytochrome system, inhibit oxidative phosphorylation, and thereby cause a deficiency of adenosine triphosphoric acid, to which brain and retinal tissues are especially susceptible. When formiate accumulates, tissue respiration is disrupted, leading to pronounced tissue hypoxia. As a result of such methanol metabolism, metabolic acidosis occurs. Tissue hypoxia develops in the first few hours as a result of the action of formic acid on the respiratory enzyme chain at the cytochrome oxidase level. Hypoxia and, as a consequence, a decrease in energy supply lead to a disruption of biological oxidation and the development of apoptosis in the optic nerve fibers. Understanding the process of optic nerve atrophy development at the pathogenetic level in methyl alcohol intoxication will help make a correct early diagnosis and prescribe timely treatment.

Optic atrophy in prematurity: pathophysiology and clinical features.

Optic atrophy is an important cause of visual impairment in children, and the aetiological profile has changed over time. Technological advancements led by neuroimaging of the visual pathway and imaging of the optic nerve with optical coherence tomography have accelerated the understanding of this condition. In the new millennium, an increasing prevalence of prematurity as a cause of optic atrophy in children has been highlighted. This new shift has been linked with increasing rates of premature births and improved neonatal survival of preterm infants. The available literature is limited to hospital and registry-based cohorts with modest sample sizes, methodological heterogeneity and selection bias limitations. Larger studies that are better designed are required to better understand the contribution of prematurity to the disease burden. In addition to considering other life-threatening aetiologies, screening for premature birth should be covered as part of a comprehensive history when evaluating a child with paediatric optic atrophy.

[Acupuncture for glaucoma-induced optic atrophy: a randomized controlled trial].

OBJECTIVE: To observe the clinical effect of acupuncture for glaucoma-induced optic atrophy. METHODS: A total of 70 patients (89 affected eyes) with glaucoma-induced optic atrophy were randomized into an observation group and a control group, 35 cases in each group. The control group was given basic western medicine treatment. In the observation group, on the basis of the treatment in the control group, acupuncture was applied at main acupoints i.e. Baihui (GV 20), Shangjingming (Extra), Chengqi (ST 1), Fengchi (GB 20), Zusanli (ST 36), combined with supplementary acupoints based on syndrome differentiation, once every three days, twice a week. The treatment for 3 months was required in both groups. Before treatment, after treatment and in follow-up of 6 months after treatment, the best corrected visual acuity (BCVA), intraocular pressure (IOP), indexes of visual field (visual field index [VFI], mean deviation [MD], pattern standard deviation [PSD]) and mean thickness of retinal nerve fiber layer (RNFL) were observed in the two groups. RESULTS: Compared before treatment, BCVA was decreased after treatment and in follow-up in the control group (P<0.05); in the follow-up, BCVA in the observation group was higher than that in the control group (P<0.05). On each time point before and after treatment, there was no significant difference within or between the two groups (P>0.05). After treatment and in the follow-up, the mean thickness of RNFL was larger than the control group (P<0.05). CONCLUSION: On the basis of the basic western medicine treatment, acupuncture can delay the decline of vision and the thinning of retinal nerve fiber layer in patients with glaucoma-induced optic atrophy.

Optic atrophy secondary to minocycline-induced idiopathic intracranial hypertension.

An early adolescent female presented with blurry vision, ocular 'fullness', pulsatile tinnitus and gait difficulty due to poor vision. She was found to have florid grade V papilloedema, 2 months after the use of minocycline for the treatment of confluent and reticulated papillomatosis for 2 months. MRI of the brain without contrast showed fullness of the optic nerve heads concerning for increased intracranial pressure, which was confirmed on lumbar puncture with an opening pressure greater than 55 cm H2O. She was initially started on acetazolamide, but due to high opening pressure and severity of visual loss, a lumboperitoneal shunt was placed in 3 days. This was complicated by a shunt tubal migration 4 months later, leading to worsening vision of 20/400 in both eyes for which she underwent shunt revision. By the time she presented to the neuro-ophthalmology clinic, she was legally blind with her exam consistent with bilateral optic atrophy.

Case Report: Optic Nerve Atrophy Secondary to Sjögren Syndrome.

SIGNIFICANCE: Optic neuropathy associated with Sjögren syndrome is rare and usually has an acute onset. PURPOSE: This study aimed to report a case of asymmetric optic nerve atrophy attributed to Sjögren syndrome. CASE REPORT: A 37-year-old woman was referred to neuro-ophthalmology service because of right optic nerve atrophy of unknown etiology. The patient was asymptomatic. Best-corrected visual acuity was 20/200 Snellen equivalent in the right eye and 20/20 Snellen equivalent in the left eye. The right eye had a relative afferent pupillary defect. Visual field demonstrated dense temporal loss, superior arcuate involvement, and an inferior paracentral defect in the right eye. Slit-lamp examination showed mild fluorescein staining of the cornea, moderate lissamine green staining of the conjunctiva, and abnormal tear breakup time in both eyes. Fundus examination revealed diffuse pallor of the right optic disc and a normal left optic disc. Optical coherence tomography showed inferior and superior retinal nerve fiber layer atrophy in the right eye and inferior retinal nerve fiber layer atrophy in the left eye. A diagnosis of right optic nerve atrophy was made. Immunologic studies were significant for positive anti-Ro and anti-La antibodies. MRI of the brain and orbit ruled out any intracranial or white-matter pathology. A diagnosis of optic nerve atrophy secondary to Sjögren syndrome was suspected, so corticosteroid treatment was started. CONCLUSIONS: Optic nerve atrophy may be the initial manifestation of Sjögren syndrome. Therefore, optic neuropathy associated with Sjögren syndrome remains a diagnostic challenge. In these cases, specific antibodies such as anti-Ro and anti-La facilitate early diagnosis and can prevent vision-threatening complications.

Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report.

OBJECTIVES: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Many other multisystemic associations have been described including menstrual irregularities in female and hypogonadism in male patients. CASE PRESENTATION: We present a first case of WFS associated with hypergonadotropic hypogonadism in a female adolescent diagnosed with WFS both clinically and genetically. Other causes of premature ovarian insufficiency (POI) have been excluded. CONCLUSIONS: This case report shows the importance of gonadal function assessment and follow-up in time for both genders.

Demographics and etiologic characteristics of non-glaucomatous optic atrophy: a single-center cross-sectional study from Turkey.

BACKGROUND: Optic atrophy is an end-stage pathology of optic nerve diseases that is characterized by optic nerve pallor and vision loss. Because of its sight-threatening effects, understanding its epidemiology and etiology is crucial. In this study, we aimed to determine the epidemiologic features of optic nerve pathologies which lead to optic atrophy. METHODS: This is a cross-sectional study in which, medical records of optic atrophy patients who were followed up in our clinic between 1999 and 2020 were evaluated. Three hundred and sixty eyes of 226 patients were included in the study. Demographic data were received from the patients' files. Patients with glaucomatous optic atrophy, consecutive optic atrophy and patients with less than a year follow-up were excluded from the study. RESULTS: The most frequent reason of optic atrophy was central nervous system diseases (27.43%) followed by secondary non-arteritic ischemic optic neuropathy (26.99%). The most frequent etiology of optic atrophy was non-arteritic ischemic optic neuropathy in males and central nerve system-related pathologies in females. The highest presentation age (mean 63.6 ± 17.85 years) was observed in arteritic ischemic optic neuropathy and central nerve system-related optic atrophy had the lowest presentation age (median 14 years, IQR [34]). CONCLUSION: Central nerve system diseases and non-arteritic ischemic optic neuropathies were the most common causes of non-glaucomatous and non-consecutive optic atrophy in Turkey. Better understanding of underlying etiologies of optic atrophy may lead us to take precautions timely for irreversible optic nerve dysfunction which is an important reason of blindness.

Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature.

Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS as well as its pathophysiology, diagnostic approach, and treatment options. We then describe a case series of 5 patients (ages 15-38, 60% male) with WS. All had significant progressive visual loss. 3/5 patients had type 1 DM and 4/5 had hearing loss. Other neuro-ophthalmological findings included convergence impairment and end-gaze nystagmus. This case series highlights the variability in clinical presentations of patients with WS, reminding clinicians to maintain high suspicion for this diagnosis in order to allow for prompt diagnosis and genetic counselling for patients and their families.

Ophthalmic features of craniosynostosis: A Malaysian experience.

BACKGROUND: This study aims to collect local Malaysian data regarding the ophthalmic features and complications in craniosynostosis patients who attended the Combined Craniofacial Clinic (CFC) in University Malaya Medical Centre (UMMC). METHODS: Retrospective study of medical notes of craniosynostosis patients who attended the CFC in UMMC from 2014 to December 2020. RESULTS: Out of 37 patients, 29 had syndromic craniosynostosis, and 8 had non-syndromic craniosynostosis. Visual impairment was present in 32.1% of patients. Causes for visual impairment were as follows - amblyopia (25.0%), exposure keratopathy (3.6%), and optic atrophy (3.6%). Hypermetropia and myopia were each seen in 20.6% of patients. Astigmatism was seen in 47.1% of patients, and 29.1% had anisometropia. Proptosis was present in 78.6% and lagophthalmos in 53.3% of patients. Strabismus in primary position occurred in 51.7% of patients. Thirty-one percent of the patients had exposure keratopathy. Optic disc atrophy was seen in 13.7% of patients, and 8.3% had optic disc swelling. Optic disc swelling was resolved in all patients who underwent craniofacial surgery. CONCLUSION: Our experience in Malaysia was consistent with previously reported data on ophthalmic features of craniosynostosis patients. Additionally, we found that non-syndromic craniosynostosis patients are also at risk of ocular complications just as much as syndromic patients. Appropriate treatment of amblyogenic risk factors, ocular complications, and timely detection of papilledema, and prompt surgical intervention are crucial in preserving long-term visual function in these patients.

Optic disc morphology and peripapillary atrophic changes in diabetic children and adults without diabetic retinopathy or visual impairment.

PURPOSE: To investigate the changes in optic disc morphology and peripapillary atrophy (PPA) in diabetic children and adults without diabetic retinopathy (DR) or visual impairment (VI). METHODS: This cross-sectional study included two groups of subjects. One group included 91 children with type 1 diabetes mellitus (T1DM) and 86 healthy children, and the other group included 444 adults with T2DM and 442 healthy controls. The optic disc parameters including major and minor axis lengths, optic disc ovality (ODO), optic disc tilt, optic disc area and ß-PPA area were analysed in all subjects. Optic disc rotation and the Bergmeister papilla were analysed only in children. Patients with diabetes and healthy controls were compared in each group of the study population. RESULTS: In both groups, patients with diabetes and healthy controls were matched for age, sex and axial length (AL). Among the children, ß-PPA area was significantly smaller in those with diabetes (0.29 ± 0.43 mm2 ) than in the healthy controls (0.46 ± 0.58 mm2 , p < 0.05). Multiple linear regression analysis showed that diagnosis of DM was negatively associated with ß-PPA area. Longer AL and higher body mass index (BMI) were positively associated with ß-PPA area. Among adults, ODO was significantly larger in those with diabetes (1.14 ± 0.09) than in healthy controls (1.12 ± 0.06, p < 0.05). Multiple linear regression analysis showed that the BMI and DM were potential risk factors affecting ODO. CONCLUSION: Hyperglycaemia had different effects on the optic disc in children and adults. Unlike in healthy controls, hyperglycaemia had an impact on the peripapillary tissue in children and on optic disc shape in adults before DR and VI development.

Tumor de hipófise em paciente com hidrocefalia: um desafio diagnóstico / Pituitary tumor in a patient with hydrocephalus: a diagnostic challenge

RESUMO A hidrocefalia é definida como a dilatação ventricular pelo aumento da pressão intraventricular e intracraniana quando não tratada ou por insucesso do tratamento. Muitas vezes, leva ao dano das vias ópticas, podendo causar atrofia óptica, devido à proximidade dessas vias com o ventrículo lateral quando ocorre a dilatação. Assim como a hidrocefalia pode levar à atrofia óptica, outras patologias também podem. Tumores hipofisários compartilham desse mesmo sinal, além de causar hemianospsia bitemporal quando o tumor comprime quiasma óptico. Ademais, a hemianopsia bitemporal é o distúrbio visual mais comum encontrado em pacientes com tumor de hipófise. Os tumores de hipófise, por exemplo, geram manifestações clínicas que podem estar relacionadas à disfunção da glândula ou aos efeitos mecânicos da expansão tumoral. Sinais e sintomas visuais estão mais ligados ao efeito mecânico do tumor. Assim, muitas vezes, o paciente procura o oftalmologista antes do endocrinologista. Neste caso, analisaremos uma paciente portadora de hidrocefalia que apresentava, concomitantemente, um tumor hipofisário, e a investigação oftalmológica fez toda a diferença no tratamento da paciente.

ABSTRACT Hydrocephalus is defined as ventricular dilation caused by increased intraventricular and intracranial pressure when untreated or due to treatment failure. Optical pathways can often cause optic atrophy due to the proximity to the lateral hazard when dilation occurs. Hydrocephalus can lead to optic atrophy, as well as other pathologies. Pituitary tumors share this same sign, in addition to causing bitemporal hemianopia when it compresses the optic chiasm. In addition, bitemporal hemianopia is the visual disturbance most commonly found in patients with pituitary tumors. Pituitary tumors, for example, have clinical manifestations that may be related to gland dysfunction, or to mechanisms of tumor expansion. Visual signs and symptoms are more linked to the mechanical effect of the tumor. Therefore, the patient usually seeks the ophthalmologist before the endocrinologist. In this case, we analyzed a patient with hydrocephalus who presented, at the same time, a pituitary tumor, and the ophthalmological investigation made all the difference in the treatment of the patient.

[Modern treatment of different forms of optic nerve atrophy]. / Sovremennye sposoby terapii razlichnykh form atrofii zritel'nogo nerva.

Optic nerve atrophy (ONA) is one of the most common causes of blindness and low vision in the world. The disease occurs in 60-68% of cases. The causes of optic nerve atrophy are diverse: inflammatory and vascular diseases of the optic nerve and retina, glaucoma, atherosclerosis of the main vessels of head and neck, diseases of central nervous system, intoxication of various etiologies, as well as congenital and hereditary diseases. The literature review presents data on the diagnosis and classification of optic nerve atrophy, as well as on drug and non-drug treatment in combination with physiotherapy.

Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder.

A 10-year-old girl initially diagnosed with functional visual loss was later diagnosed with progressive optic atrophy. Directed questioning at 13 years of age revealed difficulty hearing that had not been noted by the parents. Whole exome sequencing and subsequent metabolic testing confirmed biotinidase deficiency. Although biotinidase deficiency classically manifests in early childhood with multiple manifestations, such as seizures and failure to thrive, a delayed-onset form can present primarily as juvenile progressive optic atrophy. Early diagnosis is critical because biotin supplementation prevents disease and deterioration.

Clinical Assessment and Etiological Evaluation of Optic Nerve Atrophy.

INTRODUCTION: Optic atrophy results from the disease process that cause irreversible damage to the ganglion cells and the anterior visual pathway, but may also result from posterior visual pathway involvement. The etiology causing this condition is vast and regardless of underlying cause it carries bad visual prognosis and at times may be life threatening. The study aims to assess patients with optic nerve atrophy presenting to B.P. Koirala lions centre for ophthalmic studies and identify the underlying etiology. MATERIALS AND METHODS: This is a descriptive study conducted at B.P. Koirala Lions Centre for Ophthalmic studies. All cases of optic atrophy who presented to our outpatient department from March 2016 to March 2017 were included in the study. In addition to detailed evaluation, assessment of visual acuity, color vision, contrast sensitivity and visual field were done if feasible. Other relevant investigations were conducted to establish the underlying etiological cause. RESULTS: A total of 62 patients were included in the study, with 35 patients having bilateral disease and 27 having unilateral disease accounting for 97 eyes with optic atrophy. The mean age of the affected was 40.63±17.36 years with male to female ratio of 1.2:1. The most common etiology for optic atrophy was traumatic neuropathy (n=16, 25.8%). Majority of eyes had pale disc (n=70, 72.2%) and the rest had temporal pallor (n=27, 27.8%). CONCLUSION: Traumatic optic neuropathy was the most common etiological cause of optic nerve atrophy.

Cytomegalovirus retinitis in a patient of granulomatosis with polyangiitis on long-term immunosuppressants.

A 69-year-old male patient presented to the retina clinic with a sudden decrease in vision in his right eye since 1 day. He was a known case of granulomatosis with polyangiitis and was on systemic immunosuppression for the past 3 years. The best-corrected visual acuity (BCVA) in his right eye was 20/60 and he has no perception of light in the left eye. Fundus examination revealed the presence of retinitis lesions in the right eye and total optic atrophy in the left eye. A vitreous biopsy was done and the PCR was found to be positive for cytomegalovirus (CMV). He was treated with intravitreal ganciclovir injections. Subsequently, the retinitis lesions regressed and BCVA in the right eye improved to 20/40.This case report elaborates on the risks of the development of opportunistic ocular infections in patients receiving long-term systemic immunosuppressants and the need for regular ocular examinations in such cases.