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1.
Ophthalmology ; 131(1): 58-65, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37673374

RESUMO

PURPOSE: To explore the prevalence and causes of loss of visual acuity and visual field in highly myopic eyes. DESIGN: Population-based study. PARTICIPANTS: 4439 subjects of the Beijing Eye Study underwent ophthalmological and systemic examinations including frequency doubling technology perimetry. METHODS: High myopia was defined by a refractive error of ≤-6 diopters (D) or axial length >26.0 mm. MAIN OUTCOME MEASURES: Prevalence of vision impairment causes. RESULTS: 212 highly myopic eyes from 154 participants were included with a mean age of 56.2 ± 9.6 years, a mean refractive error of -9.87 ± 3.70 D and a mean axial length of 27.2 ± 1.3 mm. We observed moderate/severe vision impairment (MSVI) in 40 eyes (18.9%; 95% confidence interval [CI], 13.6-24.2) and blindness in 10 eyes (4.7%; 95% CI, 1.8-7.6). Primary causes for MSVI and blindness were myopic macular degeneration (MMD) (29/50; 58%), age-related macular degeneration (1/50; 2%), and branch macular retinal vein occlusion (1/50; 2%). Secondary causes were MMD (4/50; 8%) and optic nerve atrophy (14/50, 28%), further differentiated into non-glaucomatous optic atrophy (NGOA) (9/50; 18%) and glaucomatous optic atrophy (GOA) (5/50; 10%). Prevalence of MMD as vision impairment cause increased significantly from 1/61 (1.6%) in the refractive error group of -6.00 to ≥-7.00 D, to 16/25 (64%) in the group of <-15.0 D. Higher MMD prevalence correlated with higher myopic refractive error (P < 0.001) and increased likelihood of concomitant optic neuropathy (P < 0.001). Similarly, prevalence of optic neuropathy as vision impairment cause increased from 0/61 (0%) in the refractive error group of -6.00 D to ≥-7.00 D, to 9/25 (36%) in the group of <-15.0 D. Higher optic neuropathy prevalence correlated with more myopic refraction (P < 0.001) and older age (P = 0.02). CONCLUSIONS: In this population-based recruited cohort of highly myopic patients, optic neuropathy accounted for vision impairment in 9.0% eyes, which was lower than the prevalence of MMD as vision impairment cause (18.9%). Notably, optic neuropathy became a significant contributor to vision impairment in more advanced high myopia, reaching 36% in the group with refractive error of <-15.0 D. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Degeneração Macular , Miopia Degenerativa , Atrofia Óptica , Doenças do Nervo Óptico , Humanos , Pessoa de Meia-Idade , Idoso , Pequim , Prevalência , Campos Visuais , Fatores de Risco , Acuidade Visual , Miopia Degenerativa/complicações , Doenças do Nervo Óptico/etiologia , Cegueira/etiologia , Transtornos da Visão/etiologia , Transtornos da Visão/complicações , Degeneração Macular/epidemiologia
2.
Cephalalgia ; 44(3): 3331024231209326, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38529897

RESUMO

PURPOSE: Visual snow syndrome comprises a whole-field static-like visual disturbance, with increased awareness of entopic phenomena, an inability to suppress the 'just seen' and photophobia. Visual snow syndrome is often associated with other problems such as headache, tinnitus, and anxiety. The earliest reported case of a patient experiencing symptoms consistent with visual snow syndrome dates only to 1995. This paper seeks to find patterns of experience in the medical literature of the past that are reminiscent of visual snow syndrome, to challenge the view that it is in any sense a novel disorder. Descriptions of subjective visual sensations such as experienced by patients suffering from visual snow syndrome were sought in treatises, textbooks and other literature generated by leading figures in 19th-century ophthalmology, physiology and physics. CONCLUSION: While retrospective diagnosis of modern illness categories in historical medical literature is an enterprise fraught with pitfalls, it is nonetheless possible to see patterns of experience in the 19th-century medical literature that are strongly reminiscent of visual snow syndrome.


Assuntos
Transtornos da Percepção , Transtornos da Visão , Humanos , Estudos Retrospectivos , Transtornos da Visão/complicações , Transtornos da Percepção/complicações , Fotofobia , Cefaleia/complicações
3.
Pediatr Res ; 95(3): 625-633, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37935882

RESUMO

BACKGROUND: This meta-analysis aimed to identify the near- and long-term neurodevelopmental prognoses of preterm or low birth weight (LBW) infants with different severities of intraventricular hemorrhage (IVH). METHODS: Four databases were searched for observational studies that were qualified using the Newcastle-Ottawa Scale. RESULTS: 37 studies involving 32,370 children were included. Compared to children without IVH, children with mild IVH had higher incidences of neurodevelopmental impairment (NDI), cerebral palsy (CP), motor/cognitive delay, hearing impairment and visual impairment, as well as lower scores of the mental development index (MDI) and psychomotor development (PDI). Moreover, compared to mild IVH, severe IVH increased susceptibilities of children to NDI, motor delay, CP, hearing impairment and visual impairment, with worse performances in MDI, PDI, motor score and IQ. Mild IVH was not associated with seizures or epilepsy. CONCLUSIONS: Adverse neurodevelopmental outcomes positively associated with the occurrence and severity of IVH in preterm or LBW infants, providing evidence for counseling and further decisions regarding early therapeutic interventions. IMPACT: Adverse neurodevelopmental outcomes later in life were closely associated with the occurrence and severity of IVH in preterm or LBW infants. Our results highlight the importance to make prediction of the neurodevelopmental outcomes of children born preterm or LBW with a history of IVH, which will guide affected parents when their children need clinical interventions to reach the full potential. We emphasize the importance of identifying specific developmental delays that may exist in children with IVH, providing detailed information for the development of comprehensive intervention measures.


Assuntos
Paralisia Cerebral , Perda Auditiva , Doenças do Prematuro , Recém-Nascido , Lactente , Criança , Humanos , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Recém-Nascido de Baixo Peso , Hemorragia Cerebral/complicações , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/complicações , Perda Auditiva/complicações , Transtornos da Visão/complicações
4.
Circ J ; 88(3): 285-294, 2024 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-38123296

RESUMO

BACKGROUND: Takayasu arteritis, affecting primarily young women, damages large arteries and organs. We examined the impact of disease duration and sex on organ damage and quality of life using Japan's Intractable Disease Registry. METHODS AND RESULTS: After refining data, 2,013 of 2,795 patients were included in the study. Longer disease duration was related to a lower prevalence of disease activity symptoms, a higher prevalence of organ damage, and a higher proportion of patients requiring nursing care. Compared with men, women tended to have an earlier onset age, exhibiting longer disease duration. A higher proportion of women had aortic regurgitation and required nursing care. The proportion of female patients in employment was lower than that of the general female population, whereas no difference was observed between male patients and the general male population. Logistic regression analysis revealed that age at surveillance, brain ischemia, visual impairment/loss, and ischemic heart disease were significant factors associated with high nursing care needs (Level ≥2, with daily activity limitations). CONCLUSIONS: Early diagnosis and effective treatment, particularly to prevent brain ischemia, visual impairment, and ischemic heart disease, may improve the quality of life of patients with Takayasu arteritis, especially women.


Assuntos
Isquemia Encefálica , Isquemia Miocárdica , Arterite de Takayasu , Humanos , Masculino , Feminino , Arterite de Takayasu/epidemiologia , Arterite de Takayasu/complicações , Qualidade de Vida , Isquemia Encefálica/complicações , Transtornos da Visão/complicações , Sistema de Registros
5.
Mol Ther ; 31(9): 2715-2733, 2023 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-37481702

RESUMO

Neuromyelitis optica (NMO) is an autoimmune inflammatory disease of the central nervous system (CNS) characterized by transverse myelitis and optic neuritis. The pathogenic serum IgG antibody against the aquaporin-4 (AQP4) on astrocytes triggers the activation of the complement cascade, causing astrocyte injury, followed by oligodendrocyte injury, demyelination, and neuronal loss. Complement C3 is positioned as a central player that relays upstream initiation signals to activate downstream effectors, potentially stimulating and amplifying host immune and inflammatory responses. However, whether targeting the inhibition of C3 signaling could ameliorate tissue injury, locomotor defects, and visual impairments in NMO remains to be investigated. In this study, using the targeted C3 inhibitor CR2-Crry led to a significant decrease in complement deposition and demyelination in both slice cultures and focal intracerebral injection models. Moreover, the treatment downregulated the expression of inflammatory cytokines and improved motor dysfunction in a systemic NMO mouse model. Similarly, employing serotype 2/9 adeno-associated virus (AAV2/9) to induce permanent expression of CR2-Crry resulted in a reduction in visual dysfunction by attenuating NMO-like lesions. Our findings reveal the therapeutic value of inhibiting the complement C3 signaling pathway in NMO.


Assuntos
Complemento C3 , Neuromielite Óptica , Animais , Camundongos , Complemento C3/genética , Complemento C3/metabolismo , Neuromielite Óptica/patologia , Aquaporina 4/metabolismo , Transtornos da Visão/complicações , Transtornos da Visão/patologia , Astrócitos/metabolismo , Transdução de Sinais , Proteínas Recombinantes de Fusão/metabolismo
6.
BMC Psychiatry ; 24(1): 572, 2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39169290

RESUMO

BACKGROUND: Severe fatigue is a common symptom for people with visual impairment, with a detrimental effect on emotional functioning, cognition, work capacity and activities of daily living. A previous study found that depression was one of the most important determinants of fatigue, but less is known about disease-specific factors in this patient population. This study aimed to explore the association between visual impairment severity and fatigue in adults with low vision, both directly and indirectly, with vision-specific factors and depression as potential mediators. METHODS: Cross-sectional data were collected from 220 Dutch low vision service patients by telephone interviews. Fatigue was defined as a latent variable by severity and impact on daily life. Potential mediators included vision-related symptoms, adaptation to vision loss and depression. Hypothesized structural equation models were constructed in Mplus to test (in)direct effects of visual impairment severity (mild/moderate, severe, blindness) on fatigue through above mentioned variables. RESULTS: The final model explained 60% of fatigue variance and revealed a significant total effect of visual impairment severity on fatigue. Patients with severe visual impairment (reference group) had significantly higher fatigue symptoms compared to those with mild/moderate visual impairment (ß = -0.50, 95% bias-corrected confidence interval [BC CI] [-0.86, -0.16]) and those with blindness (ß = -0.44, 95% BC CI [-0.80, -0.07]). Eye strain & light disturbance, depression and vision-related mobility mediated the fatigue difference between the severe and mild/moderate visual impairment categories. The fatigue difference between the severe visual impairment and blindness categories was solely explained by eye strain & light disturbance. Moreover, depressive symptoms (ß = 0.65, p < 0.001) and eye strain & light disturbance (ß = 0.19, p = 0.023) were directly associated with fatigue independent of visual impairment severity. CONCLUSIONS: Our findings indicate an inverted-U shaped relationship between visual impairment severity and fatigue in patients with low vision. The complexity of this relationship is likely explained by the consequences of visual impairment, in particular by strained eyes and depressive mood, rather than by severity of the disability itself.


Assuntos
Depressão , Fadiga , Índice de Gravidade de Doença , Baixa Visão , Humanos , Fadiga/fisiopatologia , Fadiga/complicações , Masculino , Feminino , Estudos Transversais , Pessoa de Meia-Idade , Depressão/complicações , Adulto , Idoso , Baixa Visão/fisiopatologia , Baixa Visão/complicações , Baixa Visão/psicologia , Países Baixos , Transtornos da Visão/fisiopatologia , Transtornos da Visão/complicações , Transtornos da Visão/psicologia , Atividades Cotidianas
7.
BMC Psychiatry ; 24(1): 209, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38500080

RESUMO

BACKGROUND: Visual impairment (VI) with comorbid mental disorders (MDs) are expected to have a major impact on people's daily functioning, for which tailored support is needed. However, this has been barely investigated. Therefore, this study aimed to (1) determine the impact of VI and comorbid MDs on functioning in essential life domains, (2) gain insight into best-practices that are currently used to support this target group, and (3) determine strategies to optimize care in the future. METHODS: A four-step qualitative Delphi method was used to obtain input from 31 Dutch professionals who work with this target group (84% female, mean age 46 years, on average 11 years of experience in working with the target group). The Self-Sufficiency Matrices were used to determine the impact on various aspects of daily living, for people with VI and (1) autism spectrum disorder, (2) psychotic disorders, (3) obsessive-compulsive disorder, (4) antisocial personality disorder, (5) borderline personality disorder, (6) dependent personality disorder. RESULTS: Experts describe a frail and vulnerable population, in which the VI and MD often have a cumulative negative impact on people's physical and mental health. People frequently experience anxiety, depression, fatigue and sleep disturbances. Also, many tend to neglect self-care and substance abuse is common. They often experience difficulty in trusting others while at the same time being dependent on them. Social interaction and relationships are complicated because of communication restrictions (e.g. no facial recognition) and social incompetence or withdrawal. Experts advise taking transdiagnostic factors into account, using evidence-based psychological treatment options based on an intermittent approach, and offering multidisciplinary care. They stress the importance of building trust, showing patience and empathy, stimulating empowerment, involving the informal network and building on positive experiences. CONCLUSION: VI and comorbid MD have a major impact on people's daily functioning on a mental, physical, social and environmental level. This study provides insight into best-practices to support this target group. According to experts, more research is needed which could be aimed at investigating tailored diagnostic approaches and treatment options and include clients' perspectives.


Assuntos
Transtorno do Espectro Autista , Transtornos Mentais , Transtorno Obsessivo-Compulsivo , Transtornos Psicóticos , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Transtorno do Espectro Autista/epidemiologia , Transtornos Psicóticos/epidemiologia , Saúde Mental , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtornos da Visão/complicações , Transtornos da Visão/epidemiologia , Comorbidade , Transtornos Mentais/complicações , Transtornos Mentais/epidemiologia , Transtornos Mentais/terapia
8.
Dent Traumatol ; 40(1): 91-110, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37638637

RESUMO

BACKGROUND/AIM: Individuals with special healthcare needs (SHCN) are more likely to sustain traumatic dental injuries (TDIs) due to distinct risk factors. The aim of this review was to assess various risk factors associated with TDIs in individuals with SHCN. MATERIALS AND METHODS: The protocol was designed according to the recommendations of the Cochrane-handbook, Joanna Briggs Institute, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and registered in PROSPERO (CRD42022357422). A comprehensive search was performed in PubMed, LILACS, Web of Science, EMBASE and Scopus using a pre-defined strategy without any limitation of language and year of publication. It was last updated on 25 April 2023. Studies addressing the TDIs in individuals with SHCN were included. Data extraction and analyses were performed, risk of bias (ROB) assessment was done using the Joanna Briggs Institute's critical appraisal tool, and a meta-analysis was performed using random-effects model. RESULTS: A total of 21 studies were included in the review. They were categorized according to the target disease/condition: cerebral palsy (n = 5), ADHD and autism spectrum disorders (n = 5), visually impaired (n = 4), and multiple disorders (n = 7). The studies showed variability in the design and methods; however, 17 out of 21 studies showed moderate to low ROB. Increased overjet and lip incompetence were the main risk factors reported in the studies. The commonest injuries were observed to be enamel and enamel and dentine fractures. CONCLUSION: The overall pooled prevalence of TDI in individuals with special healthcare needs was 23.16% with 20.98% in males and 27.06% in females. Overjet >3 mm and inadequate lip coverage were found to be associated with a higher risk of TDI in all the categories of individuals with special healthcare needs except ADHD and ASD. Falls at home in cerebral palsy, falls while walking and self-harm in ADHD and ASD, falls at home and collision in visual impairment, and unspecified falls in multiple disorders could be identified as the most common cause of TDI.


Assuntos
Traumatismos Dentários , Feminino , Humanos , Masculino , Paralisia Cerebral/complicações , Atenção à Saúde , Sobremordida , Fatores de Risco , Traumatismos Dentários/complicações , Traumatismos Dentários/epidemiologia , Transtornos do Neurodesenvolvimento/complicações , Transtornos da Visão/complicações
9.
J Headache Pain ; 25(1): 53, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38584260

RESUMO

BACKGROUND: Visual snow syndrome is a disorder characterized by the combination of typical perceptual disturbances. The clinical picture suggests an impairment of visual filtering mechanisms and might involve primary and secondary visual brain areas, as well as higher-order attentional networks. On the level of cortical oscillations, the alpha rhythm is a prominent EEG pattern that is involved in the prioritisation of visual information. It can be regarded as a correlate of inhibitory modulation within the visual network. METHODS: Twenty-one patients with visual snow syndrome were compared to 21 controls matched for age, sex, and migraine. We analysed the resting-state alpha rhythm by identifying the individual alpha peak frequency using a Fast Fourier Transform and then calculating the power spectral density around the individual alpha peak (+/- 1 Hz). We anticipated a reduced power spectral density in the alpha band over the primary visual cortex in participants with visual snow syndrome. RESULTS: There were no significant differences in the power spectral density in the alpha band over the occipital electrodes (O1 and O2), leading to the rejection of our primary hypothesis. However, the power spectral density in the alpha band was significantly reduced over temporal and parietal electrodes. There was also a trend towards increased individual alpha peak frequency in the subgroup of participants without comorbid migraine. CONCLUSIONS: Our main finding was a decreased power spectral density in the alpha band over parietal and temporal brain regions corresponding to areas of the secondary visual cortex. These findings complement previous functional and structural imaging data at a electrophysiological level. They underscore the involvement of higher-order visual brain areas, and potentially reflect a disturbance in inhibitory top-down modulation. The alpha rhythm alterations might represent a novel target for specific neuromodulation. TRIAL REGISTRATION: we preregistered the study before preprocessing and data analysis on the platform osf.org (DOI: https://doi.org/10.17605/OSF.IO/XPQHF , date of registration: November 19th 2022).


Assuntos
Ritmo alfa , Transtornos de Enxaqueca , Transtornos da Percepção , Humanos , Ritmo alfa/fisiologia , Estudos de Casos e Controles , Transtornos da Visão/complicações , Eletroencefalografia , Percepção Visual/fisiologia
10.
J Neural Transm (Vienna) ; 130(3): 409-424, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36547695

RESUMO

Vision has a crucial role to play in human development and functioning. It is, therefore, not surprising that vision plays a fundamental role in the development of the child. As a consequence, an alteration in visual function is, therefore, likely to hinder the child's development. Although ocular disorders are well known, diagnosed and taken into account, cerebral visual impairments (CVI) resulting from post-chiasmatic damage are largely underdiagnosed. However, among the disorders resulting from an episode of perinatal asphyxia and/or associated with prematurity, or neonatal hypoglycaemia, CVIs are prominent. In this article, we focus on the role of the possible effects of CVI on a child's learning abilities, leading to major difficulty in disentangling the consequences of CVI from other neurodevelopmental disorders (NDD) such as dyslexia, dyscalculia, dysgraphia, attention-deficit/hyperactivity disorder (ADHD), developmental coordination disorder (DCD) and autism spectrum disorders (ASD). Although we focus here on the possible overlap between children with CVI and children with other NDD, De Witt et al. (Wit et al. Ear Hear 39:1-19, 2018) have raised exactly the same question regarding children with auditory processing disorders (the equivalent of CVI in the auditory modality). We underline how motor, social and cognitive development as well as academic success can be impaired by CVI and raise the question of the need for systematic evaluation for disorders of vision, visual perception and cognition in all children presenting with a NDD and/or previously born under adverse neurological conditions.


Assuntos
Transtornos de Deficit da Atenção e do Comportamento Disruptivo , Desenvolvimento Infantil , Deficiências da Aprendizagem , Transtornos da Visão , Córtex Visual , Percepção Visual , Visão Ocular , Cognição , Humanos , Criança , Transtornos da Visão/complicações , Transtornos da Visão/congênito , Deficiências da Aprendizagem/etiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/etiologia , Córtex Visual/anormalidades
11.
Cephalalgia ; 43(12): 3331024231219477, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38069834

RESUMO

BACKGROUND: Retinal migraine is a diagnosis of exclusion and is characterized by repeated episodes of transient monocular blindness associated with migraine. We report a case of systemic lupus erythematosus with acute episodes mimicking retinal migraines. CASE REPORT: A 46-year-old woman with a history of migraine with aura since her 20s and Evans syndrome presented with episodic transient monocular blindness. Retinal migraine was considered as the cause, and migraine prophylaxis initially reduced its frequency. After 5 months, the frequency increased, with chilblain-like lupus lesions on her extremities. Laboratory testing revealed lymphopenia and hypocomplementemia, fulfilling the diagnostic criteria for systemic lupus erythematosus, which may have caused Evans syndrome and transient monocular blindness, mimicking retinal migraines. After intravenous methylprednisolone and rituximab therapy, the transient monocular blindness episodes did not recur. CONCLUSION: Given the clinical presentation, systemic lupus erythematosus should be considered as a cause of transient monocular blindness and should be distinguished from retinal migraine.


Assuntos
Lúpus Eritematoso Sistêmico , Transtornos de Enxaqueca , Humanos , Feminino , Pessoa de Meia-Idade , Amaurose Fugaz/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Transtornos da Visão/complicações , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/complicações
12.
BMC Neurol ; 23(1): 285, 2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37525097

RESUMO

BACKGROUND: Wernicke encephalopathy (WE) is a devastating acute or subacute neurological disorder caused by thiamine deficiency. Wernicke encephalopathy is characterized by the triad of ocular signs, cerebellar dysfunction, and confusion. Visual loss and hearing loss are less common findings in WE. Here, we report a case of Wernicke encephalopathy in a nonalcoholic liver cirrhosis patient who presented with acute bilateral deafness and bilateral blindness. CASE PRESENTATION: A 60-year-old Chinese man presented with a history of bilateral blindness and bilateral hypoacousia for 3 days. He had a history of liver cirrhosis and chronic hepatitis C virus infection and did not have a habit of alcohol consumption. Ophthalmologic and otologic examinations showed no obvious abnormalities. MRI findings revealed symmetric fluid-attenuated inversion recovery (FLAIR) hyperintensities in the bilateral medial dorsal thalamus, periventricular region around the third ventricle and tectum, and dorsal medulla oblongata. One day after hospitalization, the patient developed a mild coma. Based on the laboratory and neuroimaging findings, we diagnosed the patient with Wernicke encephalopathy. He soon regained consciousness after administration of thiamine. Both his visual acuity and his hearing function improved gradually. CONCLUSIONS: We suggest that Wernicke encephalopathy can present with bilateral blindness and bilateral deafness.


Assuntos
Hepatite C Crônica , Deficiência de Tiamina , Encefalopatia de Wernicke , Masculino , Humanos , Pessoa de Meia-Idade , Encefalopatia de Wernicke/diagnóstico , Encefalopatia de Wernicke/diagnóstico por imagem , Perda Auditiva Bilateral , Hepatite C Crônica/complicações , Deficiência de Tiamina/complicações , Deficiência de Tiamina/diagnóstico , Cegueira/complicações , Transtornos da Visão/complicações , Imageamento por Ressonância Magnética , Audição , Cirrose Hepática/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.
Aging Clin Exp Res ; 35(6): 1325-1337, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37119508

RESUMO

BACKGROUND: Considering their prevalence and burden, information on the sensory impairment etiology is essential. Links between nutrition and sensory impairment through inflammation have been suggested. Although the decline in sensory capacities is age-related, few research included a geriatric population. AIMS: Exploring the associations of nutrition with sensory capacities and test inflammation as a mediator among cognitively and physically impaired older adults. METHODS: Cross-sectional data from the COGFRAIL cohort, including 164 participants with no hearing aid and 20 participants wearing no visual aid. Hearing was evaluated using the Hearing Handicap Inventory for the Elderly-screening version (on 40 points, the lower the better), and the Monoyer chart (one to ten out of ten points, the higher the better), and the Parinaud scale (from 1.5, the best, to 28 points, the worst) assessed distant and near vision, respectively. Dietary intake was assessed through a diet history interview and inflammation was measured by the C-Reactive Protein level. Multivariate linear regressions were performed and Structural Equation Modeling (SEM) framework was used to explore the potential mediation effect of inflammation on the diet-hearing relationships. RESULTS: None of the nutrients was significantly associated with hearing acuity in the regressions or the SEM model. Regarding vision, a higher intake of saturated fatty acids was related to lower long-distance visual acuity, and greater Omega-3 consumption was associated with better near-vision capacity. DISCUSSION: No nutrient was associated with hearing capacity and relationships between fatty acids quality and vision acuity were suggested. CONCLUSION: These exploratory results require further investigations.


Assuntos
Perda Auditiva , Humanos , Idoso , Perda Auditiva/epidemiologia , Perda Auditiva/complicações , Estudos Transversais , Transtornos da Visão/complicações , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia , Inflamação/complicações , Ingestão de Alimentos
15.
Pediatr Int ; 65(1): e15558, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37368572

RESUMO

BACKGROUND: Ocular injury is a leading cause of monocular blindness in children. However, data on the association of injury type with ophthalmological complications are lacking. This study aimed to investigate the risk factors of pediatric ocular injuries related to ophthalmological complications. METHODS: This retrospective, observational study was conducted in a pediatric emergency department (ED) in Japan from March 2010 to March 2021. Patients aged less than 16 years presenting with ocular trauma, diagnosed on the basis of the International Classification of Diseases 10: S05, 0-9, were enrolled. Emergency department follow-up visits for the same complaint were excluded. The patients' sex, age, arrival time, injury mechanism, symptoms, examinations, diagnosis, history of urgent ophthalmological consultation, outcomes, and ophthalmological complications were investigated. The primary endpoints were the odds ratio (OR) and 95% confidence interval (CI) of the incidence of ophthalmological complications, defined as any new acute complaint or worsening/persistence of an initial complaint following or resulting from ocular trauma. RESULTS: In total, 469 patients were analyzed. The median age was 7.3 years; the interquartile range (IQR) was 3.1-11.5 years. The most common diagnosis was contusion (79.3%), followed by lamellar laceration (11.7%). Seven patients (1.5%) had ophthalmological complications during follow up. Bivariate analysis demonstrated that daytime ED visit, impact with a sharp object, animal-related injury, visual impairment, decreased visual acuity, and open globe injury were factors significantly associated with ophthalmological complications. CONCLUSION: Daytime ED visit, impact with a sharp object, animal-related injury, visual impairment, decreased visual acuity, and open globe injury were independent factors of ophthalmological complications.


Assuntos
Traumatismos Oculares , Humanos , Estudos Retrospectivos , Traumatismos Oculares/complicações , Traumatismos Oculares/epidemiologia , Fatores de Risco , Acuidade Visual , Transtornos da Visão/complicações
16.
Am J Occup Ther ; 77(6)2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-38048262

RESUMO

IMPORTANCE: Visual function is critical to support occupational performance for persons with Parkinson's disease (PwP), yet it can be adversely affected by the disease. OBJECTIVE: To evaluate the prevalence and general awareness of visual dysfunction and identify the association between visual dysfunction and occupational performance in PwP. DESIGN: Self-reported cross-sectional electronic survey. PARTICIPANTS: PwP, identified from a registered database at a neurological institute, were invited to complete the survey through emails and newsletters. OUTCOMES AND MEASURES: The survey contained items of self-reported visual difficulties, diagnosed eye conditions, and about general awareness about disease-related visual dysfunction. Ophthalmological symptoms and occupational performance were measured with the Visual Impairment Parkinson's disease Questionnaire and the Revised Self-Reported Functional Visual Performance Scale, respectively. RESULTS: Data from PwP (n = 92; Mage = 69 yr) were analyzed. Nearly half were unaware that their disease could affect vision. Awareness was not associated with disease duration. Individuals reporting awareness tended to report difficulties with vision. Functional activities requiring vision were mildly impaired, and the frequency of ophthalmologic symptoms (commonly related to ocular surface disorder) was low. Nevertheless, a higher frequency of ophthalmologic symptoms was positively associated with a higher degree of disability in activities of daily living (Spearman's ρ = .49, p < .01). CONCLUSIONS AND RELEVANCE: Visual dysfunction related to Parkinson's disease may affect occupational performance. Screening for changes in vision in these individuals may aid occupational therapists in addressing functional independence and activity engagement. What This Article Adds: People with Parkinson's disease may not have a general awareness that the disease can adversely affect visual function. Those individuals with awareness tend to notice changes in vision, and this disease-related visual dysfunction may limit engagement and participation in everyday activities. Active evaluation of visual function in people with Parkinson's disease is recommended. Occupational therapists could play a key role by screening for visual dysfunction and providing patient education in the clinic.


Assuntos
Atividades Cotidianas , Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Estudos Transversais , Terapeutas Ocupacionais , Transtornos da Visão/complicações
17.
Gac Med Mex ; 159(3): 202-209, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37494708

RESUMO

BACKGROUND: Data on visual impairment (VI) in patients with diabetes are necessary in order to guide economic and human resources for reducing its prevalence. OBJECTIVE: To estimate the prevalence of diabetic retinopathy-related VI in patients with type 2 diabetes in a hospital-based setting. MATERIAL AND METHODS: Cross-sectional study carried out from 2014 to 2019 in an ophthalmology outpatient clinic. Any VI was defined as corrected pin-hole visual acuity in the better eye of ≥ 0.24 logMAR. The presence of diabetic retinopathy (DR), diabetic macular edema (DME) and cataract was evaluated. RESULTS: A total of 840 patients were included; median diabetes duration was 15 years. The prevalence of VI was 30%. DR was found in 62% of patients (30% had sight-threatening DR [STDR]), 17% had referable DME, and 3%, cataracts. The odds ratio for moderate or worse VI was 9.02 for STDR (p < 0.001), 5.89 for referable DME (p = 0.001), and 2.51 for cataract (p = 0.006). CONCLUSION: Thirty percent of participants had some degree of VI. Moderate or worse VI showed a strong association with STDR and referable DME.


ANTECEDENTES: Los datos sobre discapacidad visual (DV) en pacientes con diabetes son necesarios para orientar los recursos económicos y humanos que disminuyan su prevalencia. OBJETIVO: Estimar la prevalencia de DV relacionada con retinopatía diabética en pacientes con diabetes tipo 2 en un entorno hospitalario. MATERIAL Y MÉTODOS: Estudio transversal realizado de 2014 a 2019 en una consulta externa de oftalmología. Cualquier DV se definió como agudeza visual corregida con agujero estenopeico en el ojo con mejor visión (≥ 0.24 logMAR). Se evaluó la presencia de retinopatía diabética, edema macular diabético (EMD) y cataratas. RESULTADOS: Se incluyeron 840 pacientes; la mediana de duración de la diabetes fue de 15 años. La prevalencia de DV fue de 30 %. Se encontró retinopatía diabética en 62 % (30 % tenía retinopatía diabética que amenazaba la visión [RDAV]); 17 %, EMD y 3 %, cataratas. La razón de momios para DV moderada o de mayor gravedad fue de 9.02 para RDAV (p < 0.001), 5.89 para EMD referible (p = 0.001) y 2.51 para catarata (p = 0.006). CONCLUSIÓN: Treinta por ciento de los participantes tenía algún grado de DV. La DV moderada o de mayor gravedad mostró una fuerte asociación con RDAV y EMD referible.


Assuntos
Catarata , Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Edema Macular , Humanos , Retinopatia Diabética/complicações , Retinopatia Diabética/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Edema Macular/epidemiologia , Edema Macular/etiologia , Estudos Transversais , Hospitais , Catarata/complicações , Catarata/epidemiologia , Transtornos da Visão/etiologia , Transtornos da Visão/complicações
18.
Artigo em Russo | MEDLINE | ID: mdl-37427513

RESUMO

The aging of population is accompanied by simultaneous increasing of rate of age-associated ophthalmic diseases resulting in vision decreasing. However, visual impairment in elderly and senile age is rarely considered in the epidemiology of falls in these groups. The purpose of the study is to investigate medical social aspects of falls in older age groups with visual impairment. The retrospective methodology was applied to study falls in 4832 elderly and senile patients with visual impairment due to cataract glaucoma, diabetic retinopathy and age-related macular degeneration. The high incidence of falls in men and women aged 80 and older, amounting to 82.6 and 125.7 cases per 1000 of population of corresponding age respectively was established. The falls in elderly patients with low vision is more often registered in case of diabetic retinopathy than of glaucoma, cataract and age-related macular degeneration without significant differences at the age 50-59 years and 60-69 years. The diabetic retinopathy is the most common cause of falls requiring hospitalization in all age groups. To In reducing prevalence of falls and resulted hospitalization, to optimize traumatological care of patients of older age groups, the priority is for early identification and treatment of people with diabetic retinopathy.


Assuntos
Catarata , Retinopatia Diabética , Glaucoma , Degeneração Macular , Idoso , Masculino , Humanos , Feminino , Idoso de 80 Anos ou mais , Pessoa de Meia-Idade , Retinopatia Diabética/epidemiologia , Acidentes por Quedas , Estudos Retrospectivos , Envelhecimento , Degeneração Macular/epidemiologia , Degeneração Macular/complicações , Transtornos da Visão/complicações
19.
Ophthalmology ; 129(11): 1235-1244, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35752211

RESUMO

PURPOSE: To investigate the effect of smoking on rates of progressive visual field (VF) damage over time in glaucoma. DESIGN: Retrospective cohort study. PARTICIPANTS: Five hundred eleven eyes of 354 patients with glaucoma followed up from multicenter glaucoma registries. METHODS: In this longitudinal study, 354 patients with primary open-angle glaucoma with a minimum of 3 years of follow-up and 5 VF tests were enrolled from the Diagnostic Innovations in Glaucoma Study and the African Descent and Glaucoma Evaluation Study. Univariate and multivariate linear mixed models were used to investigate the effects of smoking on rates of 24-2 VF mean deviation loss. Visual field progression was defined using pointwise linear and significant negative VF mean deviation loss. Logistic regression was used to identify baseline factors and whether different levels of smoking intensity were associated with VF progression. Kaplan-Meier survival analysis and the log-rank test were used to compare the cumulative risk ratio of progression between smoker and never smoker groups. MAIN OUTCOME MEASURES: Visual field progression. RESULTS: Five hundred eleven eyes of 354 patients were included over the median follow-up of 12.5 years. Median baseline age was 64.8 years. Of the 354 patients, 124 (35%) were Black, and 149 (42.1%) and 168 (59.8%) had reported a history of smoking or alcohol consumption, respectively. In a multivariate model, higher smoking intensity was associated with faster VF loss (coefficient, -0.05 decibels (dB)/year per 10 pack-years; 95% confidence interval [CI], -0.08 to -0.01 dB/year per 10 pack-years; P = 0.010). Developing VF progression in eyes of heavy smokers (≥ 20 pack-years) was 2.2 times more than in eyes of patients without smoking history (odds ratio, 2.21; 95% CI, 1.02-4.76; P = 0.044). Statistically significant differences were found between heavy smokers (≥ 20 pack-years) and never smokers by Kaplan-Meier analysis (P = 0.011, log-rank test). CONCLUSIONS: Heavy smokers are more likely to sustain VF loss in eyes with glaucoma. The prospective longitudinal design of this study supports the hypothesis that levels of smoking may be a significant predictor for glaucoma progression. Additionally, this information can be used for clinically relevant tobacco prevention and intervention messages.


Assuntos
Glaucoma de Ângulo Aberto , Glaucoma , Humanos , Pessoa de Meia-Idade , Campos Visuais , Fumar/efeitos adversos , Glaucoma de Ângulo Aberto/etiologia , Glaucoma de Ângulo Aberto/complicações , Estudos Retrospectivos , Pressão Intraocular , Estudos Prospectivos , Seguimentos , Estudos Longitudinais , Transtornos da Visão/diagnóstico , Transtornos da Visão/complicações , Glaucoma/diagnóstico
20.
Br J Clin Pharmacol ; 88(9): 4217-4219, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35285056

RESUMO

Pseudotumour cerebri is a manifestation of intracranial hypertension in an otherwise normal individual. We hereby report phenytoin-induced pseudotumour cerebri in a 9-year-old boy who received phenytoin as a prophylactic anticonvulsant following surgical removal of unifocal Langerhans cell histiocytosis involving the right frontal bone. The child was evaluated for headache and diplopia after starting phenytoin and on evaluation was found to have bilateral sixth nerve palsy. The only abnormality detected was an elevated cerebrospinal fluid pressure. Withdrawal of phenytoin resulted in complete resolution of symptoms. Despite meticulous literature search, we found only 1 other report of phenytoin induced pseudotumour cerebri. We report this case to highlight the need to consider this entity whenever a patient presents with new onset or persistent headache and visual symptoms soon after starting a medication since a high degree of suspicion is needed to arrive at the diagnosis and to take appropriate steps before it progresses to harmful complications such as vision loss.


Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Criança , Cefaleia/induzido quimicamente , Humanos , Masculino , Fenitoína/efeitos adversos , Pseudotumor Cerebral/induzido quimicamente , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/diagnóstico , Transtornos da Visão/complicações
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