Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 885
Filtrar
1.
Mol Med Rep ; 29(5)2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38516770

RESUMO

Glaucoma is a group of progressive optic nerve disorders characterized by the loss of retinal ganglion cells, a thinner retinal nerve fibre layer and cupping of the optic disk. Apoptosis is a physiological cell death process regulated by genes and plays a crucial role in maintaining tissue homeostasis, ensuring the natural development and immune defence of organisms. Apoptosis has been associated with glaucoma and inhibiting apoptosis by activating phosphatidylinositol 3-kinase­protein kinase B or other medicines can rescue pathological changes in glaucoma. Due to the complex crosstalk of apoptosis pathways, the pathophysiological mechanism of apoptosis in glaucoma needs to be fully elucidated. The present review aimed to discuss the mechanism of cell apoptosis in glaucoma, improve the understanding of the pathophysiology of glaucoma, summarize new directions for the treatment of glaucoma and lay the foundation for new treatment strategies for glaucoma.


Assuntos
Glaucoma , Disco Óptico , Doenças do Nervo Óptico , Humanos , Glaucoma/genética , Disco Óptico/patologia , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/patologia , Apoptose , Morte Celular
2.
Clin Res Hepatol Gastroenterol ; 48(3): 102299, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38365087

RESUMO

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser-Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.


Assuntos
Degeneração Hepatolenticular , Atrofia Óptica , Doenças do Nervo Óptico , Feminino , Humanos , Adolescente , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Cobre , Doenças do Nervo Óptico/complicações , Atrofia Óptica/complicações
3.
Ophthalmic Res ; 67(1): 39-50, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38109861

RESUMO

INTRODUCTION: The aim of the study was to standardize the endoscopic deep medial orbital decompression surgery for better relief of optic nerve compression in dysthyroid optic neuropathy (DON). METHODS: A total of 128 eyes from patients received the standardized endoscopic deep medial orbital decompression surgery were recruited in this study. The efficacy of the procedure was assessed at a 1-month follow-up by the best-corrected visual acuity (VA), visual field (VF), and visual evoked potential (VEP). Clinical data were collected to explore the factors that affected visual recovery. Oxygen saturation of retinal blood vessels, retinal thickness, and vessel density were measured to demonstrate the potential recovery mechanisms. RESULTS: After surgery, the ratio of extraocular muscle volume in the orbital apex to orbital apex volume significantly decreased from 44.32 ± 22.31% to 36.82 ± 12.02% (p < 0.001). 96.87% of eyes' final VA improved; average VA improved from 0.93 ± 0.73 to 0.50 ± 0.60 at 1 week (p < 0.001) and 0.40 ± 0.53 at 1 month (p < 0.001). Postoperatively, VF and VEP also improved, the oxygen saturation of retinal arteries increased, and the retinal thickness was reduced. Preoperative VA, visual impairment duration, and clinical activity score evaluation were associated with visual recovery. CONCLUSION: In this study, we standardized the endoscopic deep medial orbital decompression, of which key point was to relieve pressure in the orbital apex and achieved satisfactory visual recovery in DON patients.


Assuntos
Oftalmopatia de Graves , Doenças do Nervo Óptico , Humanos , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/cirurgia , Potenciais Evocados Visuais , Acuidade Visual , Descompressão Cirúrgica/métodos , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/cirurgia , Doenças do Nervo Óptico/complicações , Estudos Retrospectivos , Resultado do Tratamento
4.
BMJ Case Rep ; 16(12)2023 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-38081732

RESUMO

We describe a case of infiltrative optic neuropathy with hypertrophic pachymeningitis noted on MRI of the brain, presenting a diagnostic dilemma with a wide variety of differential diagnoses to consider. Our patient is a middle-aged woman with a 20-year history of migranous-sounding headaches who was incidentally found to have worsening vision in her left eye during a routine driving test visual acuity check. Neurological examination revealed a left grade III relative afferent pupillary defect and a central scotoma with red desaturation. Subsequent MRI of her brain and anterior visual pathway revealed features suggestive of an infiltrative left optic neuropathy with hypertrophic pachymeningitis. An extended workup including diagnostic lumbar puncture and blood tests for possible autoimmune, infective and neoplastic causes proved unyielding. Eventually, an endoscopic transsphenoidal biopsy helped to clinch the diagnosis of a (meningothelial subtype) WHO grade 1 meningioma as the cause of her clinical and radiological presentation.


Assuntos
Neoplasias Meníngeas , Meningioma , Meningite , Doenças do Nervo Óptico , Pessoa de Meia-Idade , Feminino , Humanos , Meningioma/diagnóstico , Meningioma/diagnóstico por imagem , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/complicações , Meningite/complicações , Meningite/diagnóstico , Transtornos da Visão/etiologia , Hipertrofia/complicações , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/diagnóstico por imagem
5.
J Neuroophthalmol ; 43(4): 491-498, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37974364

RESUMO

BACKGROUND: Parainfectious optic neuritis is an inflammatory reaction that occurs shortly after an infection without direct invasion by a pathogen. The clinical profile depends on the infectious organism. Cases of SARS-CoV-2 parainfectious optic neuritis have been reported in the literature, but there are no reviews that have applied strict inclusion criteria to more definitively establish the clinical profile associated with SARS-CoV-2. METHODS: We present 3 new cases of SARS-CoV-2 parainfectious optic neuritis. We also review the literature for definite cases by selecting only those with unambiguous clinical features and MRI findings of optic neuritis, positive SARS-CoV-2 polymerase chain reaction or serology, and the absence of myelin oligodendrocyte-glycoprotein or aquaporin-4 antibodies or other diseases associated with optic neuritis. RESULTS: We report 2 cases of monophasic, unilateral SARS-CoV-2 parainfectious optic neuritis with optic disc edema and nadir visual acuities of finger counting. We report 1 case of mild SARS-CoV-2 parainfectious optic neuritis that featured cotton wool spots, peripapillary wrinkles and hemorrhages, and recurrence after an initial steroid taper. We identified 6 cases of unambiguous SARS-CoV-2 parainfectious optic neuritis from the literature. Combining our case series with the case reports in the literature, the average age was 42.8 years, 3/9 had bilateral disease, 6/8 had optic disc edema, 8/9 had nadir visual acuity of finger counting or worse, and all recovered visual acuity to 20/40 or better after therapy with steroids. CONCLUSIONS: SARS-CoV-2 parainfectious optic neuritis has a clinical profile that is atypical for idiopathic optic neuritis but fairly typical of parainfectious forms of optic neuritis with a severely reduced nadir visual acuity, high likelihood of bilaterality, high incidence of optic disc edema, and prompt and significant response to corticosteroids. Further study with long-term follow-up and epidemiologic investigation will be needed to further characterize this clinical entity.


Assuntos
COVID-19 , Doenças do Nervo Óptico , Neurite Óptica , Papiledema , Humanos , Papiledema/etiologia , Papiledema/complicações , SARS-CoV-2 , Estudos Retrospectivos , COVID-19/complicações , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/complicações , Neurite Óptica/diagnóstico , Neurite Óptica/tratamento farmacológico , Neurite Óptica/etiologia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia
6.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 48(8): 1197-1202, 2023 Aug 28.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-37875359

RESUMO

OBJECTIVES: Dysthyroid optic neuropathy (DON) is a class of diseases that makes seriously endanger to the vision of patients with thyroid-associated ophthalmopathy. This study aims to observe the visual function changes in patients with DON, and to evaluate the diagnostic value of indicators diagnosing DON. METHODS: A retrospective study was conducted on 98 eyes of 49 patients with dysthyroid optic neuropathy (DON) who were treated in Xiangya Hospital of Central South University from January 2017 to December 2019. All patients were received the examination of best corrected visual acuity (BCVA), Humphrey visual field, visual evoked potential (VEP), and contrast sensitivity. Ninety-eight eyes were divided into a DON group (45 eyes) and a non-DON group (53 eyes). T-test was used to compare the related indicators between the 2 groups. The sensitivity and specificity of each indicator were analyzed by receiver operating characteristic (ROC) curve. RESULTS: The BCVA and visual field index (VFI) of the DON group were significantly lower than those of the non-DON group (all P<0.05). The mean deviation (MD) and pattern standard deviation (PSD) of the DON group were significantly higher than those of the non-DON group (all P<0.05). The low frequency contrast sensitivity (CSL), medium frequency contrast sensitivity (CSM), and high frequency contrast sensitivity (CSH) of the DON group were significantly lower than those of the non-DON group (all P<0.05), with CSH being particularly prominent. Compared with the non-DON group, at spatial frequencies of 15°, 30°, and 60°, the amplitude of N135 wave was significantly reduced, and the latency of N75 wave, P100 wave, and N135 wave was significantly prolonged in the DON group (all P<0.05); at spatial frequencies of 15° and 30°, the amplitude of P100 wave was significantly reduced in the DON group (P<0.05). The ROC curve analysis results showed that the area under the curve (AUC) of VFI, CSL, CSM, CSH and 15° P100 amplitude diagnosing DON were 0.812, 0.841, 0.880, 0.784, and 0.791, respectively, with CSM possessing the highest sensitivity and specificity. CONCLUSIONS: The visual function of patients with DON is decreased. VFI, contrast sensitivity of low, medium, and high frequency, and 15° P100 wave amplitude might be effective indicators for early diagnosis of DON.


Assuntos
Oftalmopatia de Graves , Doenças do Nervo Óptico , Humanos , Curva ROC , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/complicações , Estudos Retrospectivos , Potenciais Evocados Visuais
7.
Clin Exp Ophthalmol ; 51(8): 781-789, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37700734

RESUMO

BACKGROUND: Posner Schlossman syndrome is a well-defined uveitis entity that is characterised by relapsing remitting unilateral anterior uveitis with markedly raised intraocular pressure. The aim of this study was to determine the risk factors for progression in patients with Posner Schlossman syndrome. METHODS: Ninety-eight patients were enrolled in a retrospective case series. Progression was defined as a composite endpoint of any of development of permanent glaucoma (in patients with no evidence of glaucomatous loss on presentation), corneal failure, or chronic inflammation. Relapse was defined as a resolving episode of inflammation not meeting the criteria for progression. RESULTS: Seventy seven percent of patients relapsed on average each 2.2 years. Forty percent of patients progressed. On univariate analysis, increased age at enrolment, immunocompromise at enrolment, the presence of glaucomatous optic neuropathy at enrolment, the performance of an anterior chamber tap and a positive anterior chamber tap were all associated with increased risk of progression. On multivariate analysis, age at enrolment, immunocompromise at enrolment, the performance of an anterior chamber tap, and the presence of glaucomatous optic neuropathy at enrolment were independently associated with increased risk of disease progression. CONCLUSIONS: Posner Schlossman syndrome is not a benign uveitis entity and risk of both relapse and progression are high. Older patients, immunocompromised patients, patients with glaucomatous optic neuropathy at enrolment and those with a positive anterior chamber tap are all at increased risk of progression.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Iridociclite , Doenças do Nervo Óptico , Uveíte Anterior , Uveíte , Humanos , Prognóstico , Estudos Retrospectivos , Glaucoma de Ângulo Aberto/complicações , Glaucoma/diagnóstico , Glaucoma/complicações , Uveíte/diagnóstico , Uveíte/complicações , Uveíte Anterior/complicações , Doenças do Nervo Óptico/complicações , Inflamação , Recidiva , Pressão Intraocular
8.
BMC Ophthalmol ; 23(1): 375, 2023 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-37704998

RESUMO

BACKGROUND: In cases with advanced glaucomatous disc changes, further changes associated with other optic neuropathies cannot be easily identified. We present a case of preexisting open-angle glaucoma and concurrent involvement of sarcoidosis-associated optic neuropathy. CASE PRESENTATION: A 53-year-old man presented with gradual visual loss in his left eye, which began 1 year ago and accelerated 3 months ago. The best-corrected visual acuity in the right eye was 20/20 and counting fingers in the left. Intraocular pressures (IOP) were 12 mmHg in the right eye and 34 mmHg in the left. We diagnosed him with advanced open-angle glaucoma in the left eye based on the advanced glaucomatous cupping of the left optic disc. The IOP in the left eye dropped to 10 mmHg and was well controlled with antiglaucomatous medication; however, his left optic disc developed pallor 3 months after the treatment. The patient was revealed to be diagnosed with sarcoidosis a month ago and had been treated with systemic corticosteroids thereafter by a pulmonologist. Orbital magnetic resonance imaging revealed sarcoidosis-associated optic neuropathy in the left eye. Subsequently, optic neuropathy occurred in his right eye. CONCLUSIONS: In eyes with advanced glaucomatous disc change, detecting the coexistence of other optic neuropathies can be difficult. This report highlights the importance of careful ophthalmic examinations and investigation for etiologies of other optic neuropathies if non-glaucomatous changes are suspected even in eyes with advanced glaucoma.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Disco Óptico , Doenças do Nervo Óptico , Sarcoidose , Humanos , Masculino , Pessoa de Meia-Idade , Glaucoma de Ângulo Aberto/complicações , Glaucoma de Ângulo Aberto/diagnóstico , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/diagnóstico , Doenças Raras , Sarcoidose/complicações , Sarcoidose/diagnóstico
9.
Zh Nevrol Psikhiatr Im S S Korsakova ; 123(7. Vyp. 2): 122-132, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37560844

RESUMO

Demyelinating optic neuritis and hereditary optic neuropathy (HON) take a leading place among the diseases, the leading clinical syndrome of which is bilateral optic neuropathy with a simultaneous or sequential significant decrease in visual acuity. Optic neuritis can occur at the onset or be one of the syndromes within multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD). HON are a group of neurodegenerative diseases, among which the most common variants are Leber's hereditary optic neuropathy (LHON), associated with mitochondrial DNA (mtDNA) mutations, and autosomal recessive optic neuropathy (ARON), caused by nuclear DNA (nDNA) mutations in DNAJC30. There are phenotypes of LHON «plus¼, one of which is the association of HON and CNS demyelination in the same patient. In such cases, the diagnosis of each of these diseases causes significant difficulties, due to the fact that in some cases there are clinical and radiological coincidences between demyelinating and hereditary mitochondrial diseases.


Assuntos
Esclerose Múltipla , Atrofia Óptica Hereditária de Leber , Doenças do Nervo Óptico , Neurite Óptica , Humanos , Doenças do Nervo Óptico/complicações , Atrofia Óptica Hereditária de Leber/complicações , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/genética , Neurite Óptica/etiologia , Neurite Óptica/genética , Esclerose Múltipla/complicações , Esclerose Múltipla/genética , Sistema Nervoso Central , DNA Mitocondrial/genética , Autoanticorpos
10.
Eye (Lond) ; 37(18): 3813-3818, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37322379

RESUMO

OBJECTIVES: To conduct an external validation of an automated artificial intelligence (AI) diagnostic system using fundus photographs from a real-life multicentre cohort. METHODS: We designed external validation in multiple scenarios, consisting of 3049 images from Qilu Hospital of Shandong University in China (QHSDU, validation dataset 1), 7495 images from three other hospitals in China (validation dataset 2), and 516 images from high myopia (HM) population of QHSDU (validation dataset 3). The corresponding sensitivity, specificity and accuracy of this AI diagnostic system to identify glaucomatous optic neuropathy (GON) were calculated. RESULTS: In validation datasets 1 and 2, the algorithm yielded accuracy of 93.18% and 91.40%, area under the receiver operating curves (AUC) of 95.17% and 96.64%, and significantly higher sensitivity of 91.75% and 91.41%, respectively, compared to manual graders. On the subsets complicated with retinal comorbidities, such as diabetic retinopathy or age-related macular degeneration, in validation datasets 1 and 2, the algorithm achieved accuracy of 87.54% and 93.81%, and AUC of 97.02% and 97.46%, respectively. In validation dataset 3, the algorithm achieved comparable accuracy of 81.98% and AUC of 87.49%, with a sensitivity of 83.61% and specificity of 81.76% on GON recognition specifically in the HM population. CONCLUSIONS: With acceptable generalization capability across varying levels of image quality, different clinical centres, or certain retinal comorbidities, such as HM, the automatic AI diagnostic system had the potential to provide expert-level glaucoma detection.


Assuntos
Aprendizado Profundo , Glaucoma , Doenças do Nervo Óptico , Humanos , Inteligência Artificial , Curva ROC , Glaucoma/diagnóstico , Glaucoma/complicações , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/complicações
11.
Eye (Lond) ; 37(12): 2416-2425, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37185957

RESUMO

Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophthalmic manifestations including progressive external ophthalmoplegia, retinopathy and optic neuropathy, as well as deficiencies of the retrochiasmal visual pathway. With the wider availability of genetic testing in clinical practice, it is now recognised that genotype-phenotype correlations in mitochondrial diseases can be imprecise: many classic syndromes can be associated with multiple genes and genetic variants, and the same genetic variant can have multiple clinical presentations, including subclinical ophthalmic manifestations in individuals who are otherwise asymptomatic. Previously considered rare diseases with no effective treatments, considerable progress has been made in our understanding of mitochondrial diseases with new therapies emerging, in particular, gene therapy for inherited optic neuropathies.


Assuntos
Doenças Mitocondriais , Doenças do Nervo Óptico , Doenças Retinianas , Humanos , Síndrome , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Mitocondriais/terapia , Mitocôndrias/genética , Mitocôndrias/metabolismo , Doenças do Nervo Óptico/complicações , Doenças Retinianas/complicações
12.
J Neuroophthalmol ; 43(4): 520-524, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37247249

RESUMO

BACKGROUND: Optic neuropathy in childhood leukemia occurs through multiple direct and indirect mechanisms, including leukemic infiltration of the optic nerve, infection, blood dyscrasias, or adverse effects of treatment. We aimed to characterize visual outcomes in pediatric patients with leukemia-associated neuro-ophthalmic manifestations. METHODS: We retrospectively identified patients with leukemia and optic nerve pathology over 13 years by diagnostic billing codes. We collected information on demographics, presentation, treatment course, and visual outcomes directly from medical records. RESULTS: Of the 19 patients who met inclusion criteria, 17 (89.5%) had pseudotumor cerebri and 2 had direct optic nerve infiltration. Causes of increased intracranial pressure included central nervous system infiltration (6 of 17), hyperviscosity/leukemia (2 of 17), venous sinus thrombosis (3 of 17), medication induced (5 of 17), and bacterial meningitis (1 of 17). 47.1% (8 of 17) had papilledema at the time of leukemia diagnosis, and 94.1% (16 of 17) of patients with pseudotumor cerebri were treated with acetazolamide. At presentation, 3 patients had decreased vision secondary to macular ischemia, subhyaloid vitreous hemorrhage, or steroid induced glaucoma. Following treatment of pseudotumor cerebri, binocular visual acuity was ≥20/25 in all patients. One patient with optic nerve infiltration had a final visual acuity of count fingers in the affected eye. CONCLUSIONS: In our chart review, the most common mechanism of neuro-ophthalmic involvement in pediatric leukemia was elevated intracranial pressure from a myriad of causes. Visual outcomes from patients with elevated intracranial pressure were excellent. Understanding the mechanisms by which leukemia can cause optic nerve disease in pediatric patients can facilitate earlier diagnosis and treatment and potentially improve visual outcomes.


Assuntos
Leucemia , Doenças do Nervo Óptico , Papiledema , Pseudotumor Cerebral , Humanos , Criança , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/terapia , Estudos Retrospectivos , Papiledema/diagnóstico , Papiledema/etiologia , Papiledema/tratamento farmacológico , Olho , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/complicações , Leucemia/complicações
13.
BMC Neurol ; 23(1): 165, 2023 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-37095452

RESUMO

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among these, acute visual failure, usually in association with cortical blindness, can occur because of stroke-like episodes affecting the occipital cortex or the visual pathways. Vision loss due to optic neuropathy is otherwise considered a typical manifestation of other mitochondrial diseases such as Leber hereditary optic neuropathy (LHON). CASE PRESENTATION: Here we describe a 55-year-old woman, sister of a previously described patient with MELAS harbouring the m.3243A > G (p.0, MT-TL1) mutation, with otherwise unremarkable medical history, that presented with subacute, painful visual impairment of one eye, accompanied by proximal muscular pain and headache. Over the next weeks, she developed severe and progressive vision loss limited to one eye. Ocular examination confirmed unilateral swelling of the optic nerve head; fluorescein angiography showed segmental perfusion delay in the optic disc and papillary leakage. Neuroimaging, blood and CSF examination and temporal artery biopsy ruled out neuroinflammatory disorders and giant cell arteritis (GCA). Mitochondrial sequencing analysis confirmed the m.3243A > G transition, and excluded the three most common LHON mutations, as well as the m.3376G > A LHON/MELAS overlap syndrome mutation. Based on the constellation of clinical symptoms and signs presented in our patient, including the muscular involvement, and the results of the investigations, the diagnosis of optic neuropathy as a stroke-like event affecting the optic disc was performed. L-arginine and ubidecarenone therapies were started with the aim to improve stroke-like episode symptoms and prevention. The visual defect remained stable with no further progression or outbreak of new symptoms. CONCLUSIONS: Atypical clinical presentations must be always considered in mitochondrial disorders, even in well-described phenotypes and when mutational load in peripheral tissue is low. Mitotic segregation of mitochondrial DNA (mtDNA) does not allow to know the exact degree of heteroplasmy existent within different tissue, such as retina and optic nerve. Important therapeutic implications arise from a correct diagnosis of atypical presentation of mitochondrial disorders.


Assuntos
Acidose Láctica , Síndrome MELAS , Atrofia Óptica Hereditária de Leber , Doenças do Nervo Óptico , Neuropatia Óptica Isquêmica , Acidente Vascular Cerebral , Feminino , Humanos , Síndrome MELAS/genética , Neuropatia Óptica Isquêmica/complicações , Mutação , Acidente Vascular Cerebral/complicações , Doenças do Nervo Óptico/complicações , Atrofia Óptica Hereditária de Leber/genética , DNA Mitocondrial/genética , Transtornos da Visão/complicações , Cefaleia/complicações
14.
Auris Nasus Larynx ; 50(6): 895-903, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36967263

RESUMO

OBJECTIVE: To evaluate the causative and risk factors for optic neuropathy with mucocele via imaging studies. METHODS: We included 21 patients with rhinogenous optic neuropathy with mucocele. We collected data on the sinus involved, age, sex, number of days from the onset of visual impairment to surgery, and computed tomography (CT) imaging findings (bone defects in the lamina papyracea, Onodi cell mucocele, exophthalmos, and optic nerve deviation). The results were compared between two groups, the one having nine patients with pre-operative visual acuity of <0.1 (the poor group) and the other having 12 patients with pre-operative visual acuity of ≥0.1 (the fair group). Whether or not there was a difference in pre-operative visual acuity between patients with and without Onodi cell mucocele was determined. RESULTS: After surgery, visual acuity improved in 16/21 (76.2%) patients, and a correlation analysis showed a significant positive correlation between pre-operative and post-operative visual acuity. In imaging, the causative sinuses accounted for 85.7% of both posterior ethmoid and sphenoid sinuses. Bone defects of the lamina papyracea at the optic canal and the vertical downward deviation of the optic nerve at each location, especially in 6/9 patients with Onodi cell mucocele, were characteristic in the poor group. In these conditions, increasing the contact areas of the optic nerve and mucocele can leads to more chances of direct downward compression of the optic nerve and infection occurring, and it may lead to severe pre-operative visual impairment. CONCLUSION: Imaging studies of optic neuropathy with mucocele help to determine the risk factors and perform early and precise diagnostic imaging and decision-making for surgery.


Assuntos
Mucocele , Doenças do Nervo Óptico , Humanos , Mucocele/complicações , Mucocele/diagnóstico por imagem , Mucocele/cirurgia , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/cirurgia , Nervo Óptico , Seio Esfenoidal , Tomografia Computadorizada por Raios X/métodos , Transtornos da Visão/complicações , Acuidade Visual , Seio Etmoidal
15.
Eur J Ophthalmol ; 33(4): NP119-NP124, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35348402

RESUMO

INTRODUCTION: Non-arteritic anterior ischemic optic neuropathy (NAION) is the most common cause of optic nerve swelling and optic neuropathy in adults over 50 years of age. It has been rarely reported during pregnancy, mostly related to systemic and ocular predisposing conditions. CASE REPORT: We report the case of a 44 years-old healthy female with no previous remarkable clinical history. She had in vitro fertilisation treatment to get pregnant. 18 days after uneventful cesarean section she referred sudden painless vision loss in her right eye (RE), denser inferiorly, with concurrent optic disc edema and relative afferent pupillary defect. Steroid intravenous treatment during the acute episode showed no improvement. Our patient showed normal magnetic resonance imaging (MRI), blood test, autoimmune disease biomarkers, infectious serology and inflammatory markers. She was diagnosed of RE NAION. After one year follow-up visual field defect remains stable. CONCLUSION: As far as we know this is the first report of NAION after in vitro fertilisation, uneventful pregnancy and cesarean section showing no systemic or ocular risk factors other than a small cup to disc ratio. Hemodynamic and hormonal changes during late pregnancy and uneventful cesarean section can trigger an episode of NAION in a healthy young woman.


Assuntos
Disco Óptico , Doenças do Nervo Óptico , Neuropatia Óptica Isquêmica , Papiledema , Humanos , Adulto , Feminino , Gravidez , Pessoa de Meia-Idade , Neuropatia Óptica Isquêmica/diagnóstico , Neuropatia Óptica Isquêmica/etiologia , Cesárea/efeitos adversos , Doenças do Nervo Óptico/complicações , Papiledema/etiologia , Disco Óptico/patologia
16.
Retin Cases Brief Rep ; 17(6): 754-757, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-35446822

RESUMO

BACKGROUND/PURPOSE: The purpose of this report was to describe the use of multimodal imaging to establish the diagnosis of Bartonella henselae -associated optic neuropathy in a patient who presented with a central scotoma without overt evidence of optic nerve involvement. METHODS: This was a case report. Main outcome measures included clinical, optical coherence tomography, and fluorescein angiography findings. OBSERVATIONS: A 72-year-old woman presented with a 3-day history of central scotoma in the left eye. Her examination was remarkable for faint exudation in the nasal macula of the left eye but was otherwise normal for her age. Spectral domain optical coherence tomography of the macula revealed mild thickening of the papillomacular bundle with scattered small cystoid spaces and several intraretinal exudates, none of which were visible clinically. Fluorescein angiography revealed localized leakage of the inferotemporal optic disc. When prompted, the patient recalled being scratched multiple times by her two pet kittens. Serial testing showed rising anti- B. henselae ( B. henselae ) immunoglobulin G antibody titers to 1:1,280, confirming the suspected diagnosis of B. henselae -associated optic neuropathy. CONCLUSION: Bartonella -associated optic nerve involvement can occur without overt evidence of optic disc swelling. Multimodal imaging can be used to suggest the diagnosis and support appropriate serologic testing.


Assuntos
Bartonella henselae , Disco Óptico , Doenças do Nervo Óptico , Papiledema , Humanos , Feminino , Animais , Gatos , Idoso , Escotoma/diagnóstico , Escotoma/etiologia , Doenças do Nervo Óptico/complicações , Angiofluoresceinografia , Imagem Multimodal , Tomografia de Coerência Óptica
17.
Br J Ophthalmol ; 107(4): 488-494, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-34764082

RESUMO

AIM: To investigate effect of patient age, gender, comorbidities and surgeon on refractive outcomes following cataract surgery. METHODS: Study population: patients on UK national ophthalmic cataract database on cataract operations undertaken between 1 April 2010 and 31 August 2018. Variables examined included gender, age, diabetic retinopathy, glaucoma, high myopia, inherited retinal disease, optic nerve disease, uveitis, pseudoexfoliation, vitreous opacities, retinal pathology, cataract type, previous surgery and posterior capsular rupture. A multivariate normal cross-classified model was fitted to the refractive outcome using Markov Chain Monte Carlo (MCMC) methods with diffuse priors to approximate maximum likelihood estimation. A MCMC chain was generated with a burn-in of 5000 iterations and a monitoring chain of 50 000 iterations. RESULTS: 490 987 cataract operations were performed on 351 864 patients by 2567 surgeons. Myopic and astigmatic errors were associated with posterior capsule rupture (-0.38/+0.04×72), glaucoma (-0.10/+0.05×95), previous vitrectomy (-0.049/+0.03×66) and high myopia (-0.07/+0.03×57). Hyperopic and astigmatic errors were associated with diabetic retinopathy (+0.08/+0.03×104), pseudoexfoliation (+0.07/+0.01×158), male gender (+0.12/+0.05×91) and age (-0.01/+0.06×97 per increasing decade). Inherited retinal disease, optic nerve disease, previous trabeculectomy, uveitis, brunescent/white cataract had no significant impact on the error of the refractive outcome. The effect of patient gender and comorbidity was additive. Surgeons only accounted for 4% of the unexplained variance in refractive outcome. CONCLUSION: Patient comorbidities and gender account for small but statistically significant differences in refractive outcome, which are additive. Surgeon effects are very small.


Assuntos
Catarata , Retinopatia Diabética , Glaucoma , Miopia , Doenças do Nervo Óptico , Facoemulsificação , Doenças Retinianas , Cirurgiões , Humanos , Masculino , Retinopatia Diabética/complicações , Refração Ocular , Catarata/complicações , Comorbidade , Doenças Retinianas/cirurgia , Corpo Vítreo , Doenças do Nervo Óptico/complicações , Estudos Retrospectivos , Facoemulsificação/métodos
18.
Can J Neurol Sci ; 50(3): 440-445, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-35621137

RESUMO

A retrospective review of 29 patients with neurovascular compression syndrome (NVCS) involving the anterior visual pathway was conducted. Various patterns of NVCS and visual defects were identified, most commonly involving the optic nerve and internal carotid artery. Most patients were stable, except one with progressive visual field defects. Although mostly asymptomatic, NVCS can rarely cause compressive optic neuropathy. NVCS should be kept in the differential diagnosis of normal tension glaucoma, especially with progressive visual loss despite treatment. Patients with progressive visual loss may require decompression surgery. Non-contrast computed tomography scan may miss NVCS, and magnetic resonance imaging is diagnostic.


Assuntos
Doenças do Nervo Óptico , Vias Visuais , Humanos , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/complicações , Transtornos da Visão/diagnóstico por imagem , Transtornos da Visão/etiologia , Nervo Óptico , Estudos Retrospectivos , Imageamento por Ressonância Magnética
19.
Eur J Ophthalmol ; 33(4): NP129-NP132, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35570569

RESUMO

PURPOSE: To describe two cases of severe acute bilateral optic disc edema that occurred in patients with diabetes mellitus shortly after the initiation of intensified antihyperglycemic therapy. METHODS: Retrospective observational case report. CASE DESCRIPTION: Two patients with type 1 diabetes presented for routine retinopathy screening with asymptomatic optic disc edema. One case was bilateral, the other unilateral. Neither patient had visual complaints. Both patients' glycemia history was characterized by a recent bout of poor regulation and both had optic disc edema consistent with diabetic papillopathy in combination with prominent Optic disc drusen (ODD). The swelling that appeared to constitute the edematous diabetes-related component of the disease resolved within 10-12 weeks during which diabetes therapy was optimized. Visual field deficits were seen early on in both patients and had resolved to some extent in one patient after 9 months but persisted in the one affected eye in the other patient up to at least 30 months. CONCLUSION: Two cases of ODD-associated diabetic papillopathy were observed: One with classic, bilateral disc edema and minor visual field defects, the other with unilateral disc edema, severe visual field defects and a phenotype that resembled non-arteritic anterior ischemic optic neuropathy. The cases suggest that ODD may increase the risk of diabetic papillopathy, a condition that is associated with rapid glycemia reduction and crowded optic discs, which may combine to produce nerve fiber swelling and hypoperfusion with venous congestion in a compartment with limited room for expansion.


Assuntos
Diabetes Mellitus , Retinopatia Diabética , Drusas do Disco Óptico , Doenças do Nervo Óptico , Neuropatia Óptica Isquêmica , Papiledema , Humanos , Papiledema/diagnóstico , Papiledema/etiologia , Drusas do Disco Óptico/complicações , Drusas do Disco Óptico/diagnóstico , Estudos Retrospectivos , Doenças do Nervo Óptico/complicações , Retinopatia Diabética/complicações , Neuropatia Óptica Isquêmica/diagnóstico
20.
J Magn Reson Imaging ; 57(3): 834-844, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35864716

RESUMO

BACKGROUND: The mechanism driving dysthyroid optic neuropathy (DON) is unclear. Diffusion-tensor imaging (DTI) allows for noninvasively assessing the microstructure of the entire visual pathway and may facilitate a better understanding of the mechanism of DON. PURPOSE: To assess microstructural changes of the whole visual pathway and to investigate the potential mechanism of trans-synaptic damage(TSD) pathogenesis in DON with DTI. STUDY TYPE: Cross-sectional. POPULATION: Sixty-four patients with bilateral thyroid-associated ophthalmopathy (TAO), 30 with and 34 without DON, and 30 age- and sex-matched healthy controls (HCs). FIELD STRENGTH/SEQUENCE: 3 T/DTI (A single-shot diffusion-weighted echo-planar imaging sequence). ASSESSMENT: Differences in DTI parameters including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) in each segment (optic nerve, tract, and radiation) of the entire visual pathway among the groups were compared. The parameters of visual evoked potentials (VEPs), visual field tests, and mean retinal nerve fiber layer (mRNFL) thickness on optical coherence tomography were also compared across patients. STATISTICAL TESTS: Student's t-test, chi-square test; ANOVA with post-hoc testing, interclass correlation coefficient, and correlation analysis. Significance level: P < 0.05. RESULTS: TAO patients with DON showed significantly reduced mRNFL thickness and abnormal VEPs. There was a tendency for gradually reduced FA and AD, and increased RD and MD from HCs, with non-DON to with DON in optic nerve and tract, statistically. For radiation, the RD and MD showed statistical increase, the AD and FA just showed numerical decrease (P = 0.119 and 0.059, respectively). For DON, the FA and MD of visual pathway segments showed correlations with abnormal VEPs. DATA CONCLUSION: DTI may be a useful tool for detecting microstructural changes in the entire visual pathway in DON. The changes in RNFL thickness and DTI parameters suggested TSD as a potential pathogenic mechanism of DON. EVIDENCE LEVEL: 4 Technical Efficacy: Stage 5.


Assuntos
Oftalmopatia de Graves , Doenças do Nervo Óptico , Humanos , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/diagnóstico por imagem , Estudos Transversais , Potenciais Evocados Visuais , Nervo Óptico/diagnóstico por imagem , Nervo Óptico/patologia , Doenças do Nervo Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...