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2.
Pan Afr Med J ; 35: 1, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32117517

RESUMO

We report a case of sight threatening vitreous haemorrhage and retinal detachment as complication of sickle cell disease (SCD). A 35 years old female Nigerian patient had presented to ophthalmology clinic of Princess Marina Hospital, Botswana, with two weeks history of poor vision in the left eye. The loss of vision was due to vitreous haemorrhage and retinal detachment which was confirmed by direct and indirect ophthalmoscopy and B-Scan ultrasound. Prior to presentation, patient didn't have any follow up by an ophthalmologist as part of regular medical care for patients with SCD. We emphasize the importance of regular follow up for early detection, treatment and prevention of complication associated with sickle cell disease.


Assuntos
Anemia Falciforme/complicações , Descolamento Retiniano/diagnóstico , Hemorragia Vítrea/diagnóstico , Adulto , Feminino , Humanos , Oftalmoscopia , Descolamento Retiniano/etiologia , Ultrassonografia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Hemorragia Vítrea/etiologia
3.
Cell Mol Life Sci ; 77(5): 779-780, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31897540

RESUMO

Prolonged life expectancies contribute to the increasing prevalence of age-related macular degeneration (AMD) that is already the leading cause of severe vision loss among the elderly in developed countries. In dry AMD, the disease culminates into vast retinal atrophy, whereas the wet form is characterized by retinal edema and sudden vision loss due to neovascularization originating from the choroid beneath the Bruch's membrane. There is no treatment for dry AMD and despite intravitreal injections of anti-vascular endothelial growth factor (VEGF) that suppress the neovessel formation, also wet AMD needs new therapies to prevent the disease progression and to serve patients lacking of positive response to current medicines. Knowledge on disease mechanisms is a prerequisite for the drug development, which is hindered by the multifactorial nature of AMD. Numerous distinguished publications have revealed AMD mechanisms at the cellular and molecular level and in this multi-author review, we take a bit broader look at the topic with some novel aspects.


Assuntos
Degeneração Macular/patologia , Retina/patologia , Transtornos da Visão/patologia , Idoso de 80 Anos ou mais , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/terapia , Transtornos da Visão/diagnóstico , Transtornos da Visão/terapia
4.
Eur J Ophthalmol ; 30(1): 175-180, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30644317

RESUMO

AIM: To find out and compare various predictors of glaucoma-related visual impairments in primary and secondary glaucoma. METHODS: A prospective observational study of patients, who were above 30 years of age. They were diagnosed as primary/secondary glaucoma with visual acuity <20/200 Snellen's/visual field showing less than 20° isopter in at least one eye, with a minimum follow-up of one year at a tertiary center. Patients were classified into advanced and end-stage glaucoma and outcome was assessed according to visual acuity and visual fields to see predictors of visual impairments. RESULTS: There were 169 (99 primary/70 secondary) glaucoma patients with mean age of 62.67 ± 11.9 and 54.65 ± 15.26 years, respectively. Trauma (21.4%), complicated cataract surgery (15.7%), and silicon oil tamponade (14.3%) were common causes of secondary glaucoma. There was significant delay in diagnosis in primary compared to secondary glaucoma (57.57% vs 32.85%) and non-compliance was significantly higher in primary glaucoma (34.3% vs 17.1%, p = 0.01). In univariate analysis, literacy, income status, locality, and delayed or missed diagnosis were found to be significant (p < 0.05) according to visual acuity criteria. Out of the 33 patients who had undergone glaucoma filtration surgery, 18 (54.5%) were in the end-stage group. While 105 (77.2%) of 136 patients who were not subjected to any glaucoma filtration surgery reached end-stage glaucoma as per visual fields criteria (p = 0.011). CONCLUSION: Lack of awareness, delayed diagnosis, low literacy, and income were associated with poor visual outcome. Patients who underwent glaucoma filtration surgery had significantly better visual outcome in comparison to patients managed medically.


Assuntos
Glaucoma de Ângulo Fechado/diagnóstico , Glaucoma de Ângulo Aberto/diagnóstico , Transtornos da Visão/diagnóstico , Adulto , Idoso , Feminino , Cirurgia Filtrante , Glaucoma de Ângulo Fechado/fisiopatologia , Glaucoma de Ângulo Fechado/cirurgia , Glaucoma de Ângulo Aberto/fisiopatologia , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Índia , Pressão Intraocular/fisiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Centros de Atenção Terciária , Transtornos da Visão/fisiopatologia , Transtornos da Visão/cirurgia , Acuidade Visual/fisiologia , Campos Visuais/fisiologia , Pessoas com Deficiência Visual
5.
Eur J Ophthalmol ; 30(1): NP1-NP4, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30301374

RESUMO

Twenty-six-year-old male patient admitted to the outpatient clinic with a complaint of decreased vision in both eyes. Visual acuity was 2/10 in the right and 7/10 in the left eye. Fundus examination revealed bilateral yellow-white subretinal lesions involving the macula. Fluorescein angiography showed hypofluorescent lesions in early and hyperflourescent lesions in the late phase. Optical coherence tomography angiography performed in the acute phase showed bilateral hypofluorescency at the choriocapillary level. A diagnosis of acute posterior multifocal placoid pigment epitheliopathy was given. After steroid treatment, visual acuity was improved to 10/10 and earlier lesions in optical coherence tomography angiography were found to be reduced. In conclusion, optical coherence tomography angiography is a noninvasive imaging technique that can be used in the diagnosis and follow-up of acute posterior multifocal placoid pigment epitheliopathy.


Assuntos
Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos , /diagnóstico , Doença Aguda , Adulto , Glucocorticoides/uso terapêutico , Humanos , Masculino , Transtornos da Visão/diagnóstico , Transtornos da Visão/tratamento farmacológico , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , /fisiopatologia
6.
Eur J Ophthalmol ; 30(1): 58-65, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30556423

RESUMO

BACKGROUND: Patients with congenital aniridia usually have some degree of foveal hypoplasia, thus representing a limiting factor in the final visual acuity achieved by these patients. The purpose of this study was to analyze whether the foveal morphology assessed by spectral-domain optical coherence tomography may serve as a prognostic indicator for best-corrected visual acuity in congenital aniridia patients. METHODS: Observational two-center study performed between January 2012 and March 2017 in the pediatric ophthalmology department at Vissum Alicante and Vissum Madrid, Spain. A total of 31 eyes from 19 patients with congenital aniridia were included. After a complete ophthalmological examination, a high-resolution spectral-domain optical coherence tomography with a three-dimensional scan program macular protocol was used. A morphological grading system of foveal hypoplasia was used varying from grade 1 in which there is a presence of a shallow foveal pit, extrusion of inner retinal layers, outer nuclear layer widening, and a presence of outer segment lengthening to grade 4 in which none of these processes occur. RESULTS: No correlation between central, mid-peripheral, and peripheral macular thickness and logMAR best-corrected visual acuity was found. The presence of outer segment lengthening was associated with better best-corrected visual acuity with a median best-corrected visual acuity, 0.30 logMAR, whereas the absence of this morphologic feature was associated with poorer VA with a median best-corrected visual acuity of 0.61 logMAR (p < 0.001). CONCLUSION: Foveal hypoplasia morphology can predict the best-corrected visual acuity. Specifically, the morphologic optical coherence tomography feature that is related to a better best-corrected visual acuity in congenital aniridia patients is the presence of outer segment lengthening.


Assuntos
Aniridia/diagnóstico , Fóvea Central/patologia , Tomografia de Coerência Óptica , Transtornos da Visão/diagnóstico , Acuidade Visual/fisiologia , Adolescente , Adulto , Aniridia/fisiopatologia , Criança , Pré-Escolar , Feminino , Fóvea Central/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Transtornos da Visão/fisiopatologia , Adulto Jovem
7.
Dev Med Child Neurol ; 62(1): 104-110, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31180136

RESUMO

AIM: To develop and validate the Visual Function Classification System (VFCS), which was created to classify how children with cerebral palsy (CP) use visual abilities in daily life. METHOD: The process of development and validation of the VFCS involved four phases: (1) drafting of the five levels from the analysis of literature and clinical experience; (2) validation of constructs and revision of the levels for concept meaningfulness, using nominal group process; (3) refinement by international Delphi survey; and(4) assessment of interrater reliability among professionals and with caregivers, and of test-retest reliability. RESULTS: Five nominal groups involved 29 participants; 65 people completed the first round and 51 the second round of the Delphi survey. Construct validity was demonstrated within an expert group and external validation through several stakeholders, with the involvement of patients and families to ensure meaningfulness of the concept. Discussions continued until consensus was reached about the construct and content of the five levels. Participants in the reliability study included 29 professionals, 39 parents, and a total sample of 160 children with CP (mean age [SD] 6y 6mo [3y 4mo]; median 5y 7mo, range 1-19y). Absolute interrater agreement among professionals was 86% (weighted κ=0.88; 95% confidence interval [CI] 0.83-0.93). Test-retest reliability was high (weighted κ=0.97; 95% CI 0.95-0.99). Parent-professional interrater reliability on 39 children was moderate (weighted κ=0.51; 95% CI 0.39-0.63). INTERPRETATION: The VFCS has been appropriately constructed and provides a reliable system to classify visual abilities of children with CP both in clinical and in research settings. WHAT THIS PAPER ADDS: The Visual Function Classification System is a valid and reliable system. It classifies visual abilities of children with cerebral palsy in clinical and research settings. At a clinical level, it can be used to harmonize communication among professionals and identify patients' strengths and weaknesses. In research settings, it can be used to stratify patients, define natural history evolution, and interpret intervention studies.


Assuntos
Atividades Cotidianas , Paralisia Cerebral/fisiopatologia , Índice de Gravidade de Doença , Transtornos da Visão/fisiopatologia , Adolescente , Adulto , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Técnica Delfos , Feminino , Humanos , Lactente , Masculino , Reprodutibilidade dos Testes , Transtornos da Visão/classificação , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Adulto Jovem
8.
Dev Med Child Neurol ; 62(1): 111-117, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31267521

RESUMO

AIM: To develop an assessment tool that measures a wide range of visual perceptual deficits common in cerebral visual impairment (CVI) and to provide normative data from typically developing children between 3 and 6 years of age. METHOD: Test development reflected cross-talk between vision research and clinical relevance for CVI. The Children's Visual Impairment Test for 3- to 6-year-olds (CVIT 3-6) includes 14 subtests covering four domains of visual perception: Object Recognition, Degraded Object Recognition, Motion Perception, and Global-Local Processing. Normative data were collected from 301 typically developing children (mean age 4y 8mo [SD 9.7mo]; 148 females, 153 males). A questionnaire was administered to parents about pregnancy duration, birth, and developmental problems. RESULTS: Average total CVIT 3-6 performance was 60.1 (SD 5.5) out of 70. The cut-off score for normal visual perception (53) was set at the 10th centile of scores in typically developing children. Multiple regression indicated CVIT 3-6 visual perception scores increase with age for children born at 36 weeks' gestational age or later (ß=-18.03, 95% confidence interval -31.31 to -4.75). INTERPRETATION: CVIT 3-6 is a tool to assess a wide range of visual perceptual deficits common in CVI. Age-dependent normative data are available because we found performance increased with age. WHAT THE PAPER ADDS: A test for visual perceptual deficits common in cerebral visual impairment. Visual perceptual functions improve with age in full-term typically developing children.


Assuntos
Desenvolvimento Infantil/fisiologia , Testes Neuropsicológicos , Reconhecimento Visual de Modelos/fisiologia , Transtornos da Percepção/diagnóstico , Transtornos da Visão/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Percepção de Movimento/fisiologia , Testes Neuropsicológicos/normas , Transtornos da Percepção/etiologia , Valores de Referência , Transtornos da Visão/complicações
9.
Dev Med Child Neurol ; 62(1): 118-124, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31267523

RESUMO

AIM: To evaluate the reliability and validity of the Children's Visual Impairment Test for 3- to 6-year-olds (CVIT 3-6). METHOD: Reliability was assessed via test-retest correlation and intraclass correlation coefficient (ICC) in typically developing children, children with cerebral visual impairment (CVI), intellectual impairment, and simulated impaired vision (validation groups n=59, mean developmental age=4y 10mo, 27 females, 32 males). Internal validity was evaluated with a confirmatory factor analysis on the normative sample (n=301, median age=4y 8mo, SD=9.7mo, 148 females, 153 males). External validity was assessed by correlating performance on CVIT 3-6 with L94, the Beery-Buktenica Developmental Test of Visuo-Motor Integration (Beery-VMI), the Freiburg Vision Test, the revised Snijders-Oomen Nonverbal Intelligence Test for children between 2 years 6 months and 7-years-old (SON-R 2.5-7), and the Social Responsiveness Scale (SRS) questionnaire and by comparing performance between validation groups. RESULTS: We observed very good test-retest reliability (r=0.82, p<0.001, ICC=0.80) and confirmed the hypothesized factor structure (comparative fit index=1; Tucker-Lewis index=1.045). We found high correlations with tests with a strong visual perception component (L94: r=0.74, p<0.001; SON-R 2.5-7: r=0.37, p=0.01) and low correlations with other tests (Beery-VMI: r=0.25, p=0.09; SRS: r=0-0.26, p=0.09). Lowest scores were observed for children with CVI compared to the other validation groups (F[3,44]=5.1, p=0.003). INTERPRETATION: CVIT 3-6 is grounded in knowledge of visual perception. The tool specifically measures CVI-related visual perception deficits and is not mediated by intellectual abilities or low visual acuity. WHAT THE PAPER ADDS: Evidence for good test-retest reliability of the Children's Visual Impairment Test for 3- to 6-year-olds (CVIT 3-6). Factor structure of normative data reflects CVIT 3-6's foundations in vision science. CVIT 3-6 specifically measures visual perception impairments. CVIT 3-6 performance is not influenced by intelligence or low visual acuity.


Assuntos
Deficiência Intelectual/diagnóstico , Testes Neuropsicológicos/normas , Transtornos da Percepção/diagnóstico , Transtornos da Visão/diagnóstico , Percepção Visual/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Transtornos da Percepção/etiologia , Reprodutibilidade dos Testes , Transtornos da Visão/complicações , Testes Visuais
10.
Invest Ophthalmol Vis Sci ; 60(14): 4548-4555, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31675072

RESUMO

Purpose: To determine the association of statins, five classes of antihypertensive medications, and proton pump inhibitors with (1) primary open-angle glaucoma (POAG) progression and (2) conversion of POAG suspects to POAG. Methods: We retrospectively investigated the records of a cohort with POAG cases and suspects from the Groningen Longitudinal Glaucoma Study. To quantify visual field (VF) deterioration in cases, we used the rate of progression of the mean deviation (MD). Suspects were considered to have converted at the time point after which two consecutive VF tests for at least one eye were abnormal (glaucoma hemifield test outside normal limits). Progression and conversion were analyzed with quantile and logistic regression, respectively, with the systemic medications as predictors, controlling for age, sex, body mass index, pretreatment IOP, corneal thickness, and baseline MD. The multivariable models were built with and without IOP intervention. Results: No systemic medications were associated with POAG progression in the final IOP/treatment-adjusted or unadjusted model. However, angiotensin II receptor blockers (ARBs) appeared to slow progression in older patients (b = 0.014, P = 0.0001). Angiotensin-converting enzyme inhibitors (ACEIs) were significantly associated with a decrease in POAG suspect conversion in both the IOP/treatment-adjusted and -unadjusted model (odds ratio [OR] 0.23, 95% confidence interval [CI] 0.07-0.79, P = 0.012; OR=0.24, 95% CI 0.07-0.78, P = 0.021, respectively), as were ARBs (OR 0.12, 95% CI 0.01-0.98, P = 0.014; OR 0.11, 95% CI 0.01-0.87, P = 0.005, respectively). Conclusions: No overall association of VF progression with systemic medication was found; ARBs delayed progression in older patients. ACEIs and ARBs were associated with lower risk of suspect conversion. The pathophysiology of this relationship is to be disentangled.


Assuntos
Anti-Hipertensivos/uso terapêutico , Glaucoma de Ângulo Aberto/diagnóstico , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Idoso , Anti-Hipertensivos/efeitos adversos , Progressão da Doença , Feminino , Alemanha , Glaucoma de Ângulo Aberto/induzido quimicamente , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Pressão Intraocular/efeitos dos fármacos , Pressão Intraocular/fisiologia , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Nível de Efeito Adverso não Observado , Hipertensão Ocular/induzido quimicamente , Hipertensão Ocular/diagnóstico , Hipertensão Ocular/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , Tonometria Ocular , Transtornos da Visão/induzido quimicamente , Transtornos da Visão/diagnóstico , Testes de Campo Visual , Campos Visuais/efeitos dos fármacos , Campos Visuais/fisiologia
11.
Invest Ophthalmol Vis Sci ; 60(14): 4711-4716, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31725170

RESUMO

Purpose: Neuroretinopathy is increasingly being recognized as an independent cause of vision loss in diabetes. Visual field loss, as detected by frequency doubling technology (FDT)-based visual perimetry, is a sign of neuroretinopathy and occurs in early stages of diabetic retinopathy (DR). Here, we hypothesized that FDT visual field testing could identify patients with diabetic neuroretinopathy in the absence of clinically detectable microvascular DR. Methods: All National Health and Nutrition Examination Survey (NHANES) 2005-2008 participants receiving fundus photography and visual field screening by FDT were included in this study. Participants with self-reported glaucoma, use of glaucoma medications, or determination of glaucoma based on disk features were excluded. Visual fields were screened using FDT protocol in which participants underwent a 19-subfield suprathreshold test. Results: Patients with diabetes but no DR were more likely to have ≥1 subfield defects at 5%, 2%, and 1% probability levels than patients without diabetes (41.3% vs. 28.6%; 27.4% vs. 17.5%; 15.9% vs. 9.4%; all P < 0.0008). Multivariable regression showed that each additional glycated hemoglobin % (HbA1c) was associated with 19% greater odds of having ≥1 visual subfield defects in those with diabetes without DR (odds ratio: 1.19, 95% confidence interval: 1.07-1.33; P = 0.0020). Conclusions: Patients with diabetes have visual field defects in the absence of clinically detectable DR, suggesting neuroretinopathy precedes classical microvascular disease. These defects become more frequent with the onset of visible retinopathy and worsen as the retinopathy becomes more severe. Longitudinal studies are required to understand the pathogenesis of diabetic neuroretinopathy in relation to classic DR.


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico , Retinopatia Diabética/diagnóstico , Transtornos da Visão/diagnóstico , Campos Visuais/fisiologia , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/fisiopatologia , Retinopatia Diabética/fisiopatologia , Feminino , Hemoglobina A Glicada/metabolismo , Inquéritos Epidemiológicos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , Fotografação , Transtornos da Visão/fisiopatologia , Testes de Campo Visual
12.
Ophthalmic Surg Lasers Imaging Retina ; 50(11): 734-736, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31755973

RESUMO

Standard implementation of the M-CHARTS metamorphopsia tool presents patients with only vertical and horizontal lines, potentially overlooking distortions not occurring within those precise meridians. The authors propose rotating the M-CHARTS testing booklet about the central fixation point until maximal distortion is perceived, after which sequential M-CHARTS testing can take place along that same axis. In a symptomatic patient with residual parafoveal fluid cysts after release of vitreomacular traction, M-CHARTS testing yielded standard testing scores of 0 (false-negative); upon rotating the reference test line, a score of 0.3 was measured at the 30° meridian. The authors believe this modification of the original methodology is more sensitive and more accurately reflects the severity of a patient's distortions. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:734-736.].


Assuntos
Transtornos da Visão/diagnóstico , Testes Visuais/métodos , Feminino , Humanos , Pessoa de Meia-Idade , Resultados Negativos
13.
Rinsho Shinkeigaku ; 59(11): 730-735, 2019 Nov 08.
Artigo em Japonês | MEDLINE | ID: mdl-31656263

RESUMO

[Background] Supranuclear extraorbital muscle palsy is the core feature of progressive supranuclear palsy (PSP), and ordinarily presents as spontaneous vertical gaze constriction. However, higher visual function associated with visuospatial cognition in PSP patients was not previously considered. [Case presentation] We present a 72-year old right-handed man with PSP- Richardson syndrome (PSP-RS) and abnormal higher visual function. His symptoms began 2 years previously and included the use of small steps while walking, forgetfulness, and postural instability. Neurological examination revealed supranuclear vertical gaze limitation, akinesia, and lead-pipe rigidity without laterality. Neuro-ophthalmological examination showed abnormal ocular movement consistent with PSP, and no visual abnormality was observed. General cognitive functions, including attention and prominent visuospatial orientation and visual attention disturbances, were assessed using neuropsychological tests and concomitant spatial agraphia and impaired configuration using figure copying. Although he presented with mildly decreased and monotonous speech with palilalia, he showed no apparent aphasia, apraxia, visual object agnosia, or Bálint's 'optische Ataxie' i.e. visual ataxia under fixation. Brain MRI revealed atrophy of the mesencephalic tegmentum, bilateral frontal lobe, and bilateral hippocampus. N-isopropyl-p-(iodine-123)-iodoamphetamine single photon emission computed tomography revealed decreased cerebral blood flow in the bilateral frontal lobe, lateral temporal lobe, and basal ganglia. Dopamine transporter single photon emission CT revealed uptake attenuation in the bilateral striatum. 123I-metaiodobenzyl-guanidine myocardium scintigraphy results were normal. [Discussion] The patient's symptoms indicated classical PSP-RS accompanied with a combination of disturbances in spatial orientation and visual attention as noted by Holmes and Horrax and 'ataxie optique' by Garcin. Thus, as observed in this patient, many clinically diagnosed PSP patients with undiagnosed higher visual dysfunction, masked by limited eye movement may exist. These symptoms may further our understanding about posterior cortical atrophy and tauopathy including not only PSP but also corticobasal syndrome and Alzheimer disease.


Assuntos
Agnosia/etiologia , Ataxia/etiologia , Atenção , Transtornos da Percepção/etiologia , Transtornos Psicofisiológicos/etiologia , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/diagnóstico , Transtornos da Visão/etiologia , Percepção Visual , Idoso , Agnosia/diagnóstico , Ataxia/diagnóstico , Humanos , Masculino , Transtornos da Percepção/diagnóstico , Transtornos Psicofisiológicos/diagnóstico , Transtornos da Visão/diagnóstico
14.
Pan Afr Med J ; 33: 174, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31565135

RESUMO

The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. This study aims to highlight the importance of multidisciplinary management and of the need for ophthalmological examination in each deaf child. We conducted a prospective monocentric data collection from medical records of 200 children followed for hypoacousia from January 2014 to January 2015. Each child underwent complete ophthalmological examination, ENT examination and clinical examination. Data from 155 medical records were collected. Ocular involvement was found in 47 patients, reflecting a rate of 30.4%. Bilateral involvement was found in 45 patients. The main syndromic causes were: Usher syndrome (8 casess), Waardenbourg syndrome (5 cases), Alport syndrome (3 cases), Wolfram syndrome (2 cases), Goldenhar syndrome (3 cases), Cogan syndrome (3 cases), Franceschetti-Kleinsyndrome (1 case), Charge syndrome(1 case), otomandibular syndrome (1 case), Stickler syndrome(1 case), Alström syndrome (1 case), Refsum disease (1 case), Susac syndrome (1 case) and KID Syndrome (1 case). Screening for ocular involvement allowed to shorten the average length of cochlear implantation from 9 months to 3 months. There are numerous ocular and auditory involvements because of the embryological and cellular similarities of these two organs, including the retina and the inner ear. The diagnosis of these involvements is facilitated by the presence of facial dysmorphism; on the other hand, diagnosis is difficult when there are visual and auditory sensorineural involvements. Early diagnosis of ocular and auditory involvements allows for best psychomotor development and optimal social inclusion. Therefore multidisciplinary management is necessary to allow for the best psychomotor, orthophonic and visual rehabilitation.


Assuntos
Implante Coclear/estatística & dados numéricos , Surdez/complicações , Programas de Rastreamento/métodos , Transtornos da Visão/epidemiologia , Adolescente , Criança , Pré-Escolar , Surdez/cirurgia , Diagnóstico Precoce , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Síndrome , Fatores de Tempo , Transtornos da Visão/diagnóstico
15.
Continuum (Minneap Minn) ; 25(5): 1310-1328, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31584539

RESUMO

PURPOSE OF REVIEW: This article reviews the anatomy, symptoms, examination findings, and causes of diseases affecting the optic chiasm, optic tracts, optic radiations, and occipital lobes. RECENT FINDINGS: Modern ophthalmic imaging can be used to monitor the effects of diseases of the optic chiasm and tract on the retinal ganglion cells. It can also be used to visualize transsynaptic degeneration of the anterior visual pathway in the setting of acquired retrogeniculate lesions. Visual prostheses that directly stimulate the occipital lobe are a potential strategy for rehabilitation that is in active clinical trials. SUMMARY: Detecting and characterizing visual deficits due to optic chiasm and retrochiasmal disease are important for the diagnosis, localization, and monitoring of neurologic disease; identifying patient disability; and guiding rehabilitation.


Assuntos
Encefalopatias , Lobo Occipital , Quiasma Óptico , Doenças do Nervo Óptico , Transtornos da Visão , Vias Visuais , Adulto , Encefalopatias/diagnóstico , Encefalopatias/patologia , Encefalopatias/fisiopatologia , Encefalopatias/terapia , Feminino , Humanos , Pessoa de Meia-Idade , Lobo Occipital/patologia , Lobo Occipital/fisiopatologia , Quiasma Óptico/patologia , Quiasma Óptico/fisiopatologia , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/patologia , Doenças do Nervo Óptico/fisiopatologia , Doenças do Nervo Óptico/terapia , Transtornos da Visão/diagnóstico , Transtornos da Visão/patologia , Transtornos da Visão/fisiopatologia , Transtornos da Visão/terapia , Vias Visuais/patologia , Vias Visuais/fisiopatologia
16.
Continuum (Minneap Minn) ; 25(5): 1329-1361, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31584540

RESUMO

PURPOSE OF REVIEW: This article reviews the disorders that result from disruption of extrastriate regions of the cerebral cortex responsible for higher visual processing. For each disorder, a historical perspective is offered and relevant neuroscientific studies are reviewed. RECENT FINDINGS: Careful analysis of the consequences of lesions that disrupt visual functions such as facial recognition and written language processing has improved understanding of the role of key regions in these networks. In addition, modern imaging techniques have built upon prior lesion studies to further elucidate the functions of these cortical areas. For example, functional MRI (fMRI) has identified and characterized the response properties of ventral regions that contribute to object recognition and dorsal regions that subserve motion perception and visuospatial attention. Newer network-based functional imaging studies have shed light on the mechanisms behind various causes of spontaneous visual hallucinations. SUMMARY: Understanding the regions and neural networks responsible for higher-order visual function helps the practicing neurologist to diagnose and manage associated disorders of visual processing and to identify and treat responsible underlying disease.


Assuntos
Lobo Occipital/fisiopatologia , Transtornos da Percepção/fisiopatologia , Transtornos da Visão/fisiopatologia , Percepção Visual/fisiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Occipital/patologia , Transtornos da Percepção/diagnóstico , Transtornos da Percepção/patologia , Transtornos da Visão/diagnóstico , Transtornos da Visão/patologia , Adulto Jovem
17.
Continuum (Minneap Minn) ; 25(5): 1401-1421, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31584543

RESUMO

PURPOSE OF REVIEW: This article discusses the varied types of paraneoplastic syndromes that commonly have neuro-ophthalmologic manifestations. Diagnostic considerations and therapeutic options for individual diseases are also discussed. RECENT FINDINGS: Paraneoplastic syndromes can affect the afferent and efferent visual systems. Paraneoplastic syndromes may result in reduced visual acuity from retinal degeneration, alterations in melanocyte proliferation and uveal thickening, or acquired nystagmus. Ocular motor abnormalities related to paraneoplastic syndromes may present with symptoms from opsoclonus or from neuromuscular junction disease. Diagnosis remains challenging, but serologic identification of some specific antibodies may be helpful or confirmatory. Treatment, in addition to directed therapies against the underlying cancer, often requires systemic corticosteroids, plasma exchange, or immunosuppression, but some specific syndromes improve with use of targeted pharmacologic therapy. SUMMARY: Diagnosis and therapy of paraneoplastic syndromes presenting with neuro-ophthalmic symptoms remain a challenge, but strategies are evolving and new approaches are on the horizon.


Assuntos
Transtornos da Motilidade Ocular/etiologia , Doenças do Nervo Óptico/etiologia , Síndrome POEMS/etiologia , Síndromes Paraneoplásicas do Sistema Nervoso/complicações , Síndromes Paraneoplásicas Oculares/complicações , Doenças Retinianas/etiologia , Transtornos da Visão/etiologia , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/diagnóstico , Doenças do Nervo Óptico/diagnóstico , Síndrome POEMS/diagnóstico , Síndromes Paraneoplásicas do Sistema Nervoso/diagnóstico , Síndromes Paraneoplásicas Oculares/diagnóstico , Doenças Retinianas/diagnóstico , Transtornos da Visão/diagnóstico
18.
Optom Vis Sci ; 96(10): 802-807, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31592963

RESUMO

SIGNIFICANCE: The cases illustrate an insidious cause of decreased visual acuity after cataract surgery. PURPOSE: The purpose of this study was to identify cases of postoperative vision loss caused by slight intraocular lens (IOL) malpositioning after cataract surgery. CASE REPORTS: Three patients presented with visual acuity decreased after cataract surgery. Silt-lamp examination before mydriasis revealed no abnormalities in two of the patients; mild IOL inferonasal decentration was found by the trifocal IOL diffraction ring in the third patient. Manifest refraction of these patients showed remarkable astigmatism with low corneal astigmatism. After pupil dilation, slight IOL decentration and tilt were observed in all patients, which were further confirmed using the Scheimpflug imaging system. Wavefront aberrometry showed a high level of ocular higher-order aberrations, most of which were derived from intraocular aberrations. CONCLUSIONS: Inconspicuous IOL malpositioning is one of the reasons responsible for decreased vision acuity after cataract surgery, which may not be easily identified by slit-lamp examination. High astigmatism and ocular higher-order aberrations derived from malpositioned IOL can be important clues.


Assuntos
Migração do Implante de Lente Intraocular/complicações , Complicações Pós-Operatórias , Transtornos da Visão/etiologia , Aberrometria , Idoso , Migração do Implante de Lente Intraocular/fisiopatologia , Astigmatismo/diagnóstico , Aberrações de Frente de Onda da Córnea/diagnóstico , Feminino , Humanos , Implante de Lente Intraocular , Masculino , Facoemulsificação , Microscopia com Lâmpada de Fenda , Transtornos da Visão/diagnóstico , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia
19.
Invest Ophthalmol Vis Sci ; 60(13): 4277-4284, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31618764

RESUMO

Purpose: Juvenile-onset open-angle glaucoma (JOAG), if left untreated, will lead to severe visual disability. The purpose of this study was to identify the disease-causing mutations in a Chinese JOAG family. Methods: We recruited a Chinese JOAG family and unrelated primary open-angle glaucoma (POAG) patients (270, Chinese), and performed whole-exome sequencing (WES) to screen the sequence variations. Variants identified by WES were validated by Sanger sequencing. Subsequently, qPCR and Western blotting were used to determine the expression of wild-type (WT) and its mutated-type (MT) of 2'-5'-oligoadenylate synthetase 3 (OAS3) genes. Results: Seventeen heterozygous candidate variants were revealed in the JOAG family based on the screening of WES data. Of those, the heterozygous variant exon11:c.2299C>T: p.Arg767Cys in OAS3, a gene used to synthesize 2'-5'-oligoadenylate (2-5A), co-segregates with the disease phenotype. One unrelated POAG patient also carried this variant, but this variant was absent in 200 nonglaucoma healthy controls. Analysis of the Arg767Cys mutation with PolyPhen2, CADD, and SIFT all suggest that it is pathogenic. This arginine residue is highly conserved in all selected OAS3 orthologs. On the other hand, in peripheral blood samples, the mRNA expression of OAS3 in patients significantly decreased compared with unaffected controls. Moreover, the expression level of recombinant OAS3 protein (mutated Arg767Cys) also observably reduced compared with level of WT protein in HEK293T cells. Conclusions: Our study revealed a heterozygous mutation in OAS3 from a Chinese JOAG family. And this mutation showed a deleterious effect to the expression of OAS3.


Assuntos
2',5'-Oligoadenilato Sintetase/genética , Grupo com Ancestrais do Continente Asiático/genética , Predisposição Genética para Doença , Glaucoma de Ângulo Aberto/genética , Mutação , Adulto , Western Blotting , China/epidemiologia , Regulação da Expressão Gênica/fisiologia , Vetores Genéticos , Glaucoma de Ângulo Aberto/diagnóstico , Células HEK293 , Heterozigoto , Humanos , Masculino , Linhagem , RNA Mensageiro/genética , Transtornos da Visão/diagnóstico , Transtornos da Visão/genética , Campos Visuais , Sequenciamento Completo do Exoma
20.
Curr Opin Ophthalmol ; 30(6): 500-505, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31503074

RESUMO

PURPOSE OF REVIEW: There are an increasing number of publications related to dengue ophthalmic manifestations and multimodality imaging related to dengue. This review summarizes the current literature, describe ocular manifestations, current using of ocular imaging/investigations, and management of ocular dengue. RECENT FINDINGS: Ocular manifestations of dengue can be present in many stages of dengue fever including after the resolution of systemic disease. Most cases of ocular dengue will exhibit an improvement in vision spontaneously over time. Multimodal imaging such as optical coherence tomography, optical coherence tomography angiography, near-infrared imaging, and microperimetry plays an important role in the diagnosis, follow-up, quantitative measure, and help to understand the disease progression. SUMMARY: Dengue fever can lead to a variety of ocular manifestations. The mechanisms underlying dengue-related ocular complications remain unclear. Immune-mediated mechanisms and direct viral invasion are thought to play an important role. Ophthalmologists should carefully assess patients with dengue-related ophthalmic disease because some patients may have poor visual acuity and exhibit refractoriness to treatment. Treatment with systemic corticosteroids may benefit those patients with poor presenting visual acuity, progressive ocular symptoms, and lesions involving the optic nerve and/or threatening the macula.


Assuntos
Dengue/diagnóstico , Infecções Oculares Virais/diagnóstico , Transtornos da Visão/diagnóstico , Dengue/virologia , Infecções Oculares Virais/virologia , Angiofluoresceinografia , Humanos , Imagem Multimodal , Espectrofotometria Infravermelho , Tomografia de Coerência Óptica/métodos , Transtornos da Visão/virologia , Testes de Campo Visual
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