RESUMO
The full-field stimulus test (FST) is a psychophysical technique designed for the measurement of visual function in low vision. The method involves the use of a ganzfeld stimulator, as used in routine full-field electroretinography, to deliver full-field flashes of light. This guideline was developed jointly by the International Society for Clinical Electrophysiology of Vision (ISCEV) and Imaging and Perimetry Society (IPS) in order to provide technical information, promote consistency of testing and reporting, and encourage convergence of methods for FST. It is intended to aid practitioners and guide the formulation of FST protocols, with a view to future standardisation.
Assuntos
Eletrorretinografia , Testes de Campo Visual , Eletrorretinografia/métodos , Sociedades Médicas , Estimulação Luminosa/métodos , Visão OcularRESUMO
Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and also secondary glaucoma which occurs in over 50% of patients. Ocular anterior segment disorders occur due to a complex interplay of developmental, embryological and genetic factors, and often have phenotypic overlaps and genetic heterogeneity. Here we present a review of the clinical features and genes associated with aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, and syndromic forms of these conditions. We also highlight phenotype-genotype correlations, recent discoveries with next-generation sequencing which broaden known phenotypes, and new anterior segment genes and pathways. We provide a guide towards genetic diagnosis for clinicians investigating patients with anterior segment dysgenesis.
Assuntos
Aniridia/genética , Segmento Anterior do Olho/anormalidades , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/genética , Glaucoma/genética , Animais , Estudos de Associação Genética/métodos , Heterogeneidade Genética , Genótipo , Humanos , FenótipoRESUMO
Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with associated risks. This study was undertaken to describe the use of multifocal visual evoked potentials (multifocal VEP, mfVEP) in the regular monitoring of NF2 patients with ONSM. This study involved three NF2 patients with ONSM who undertook mfVEP testing at an academic ophthalmic centre. Same day mfVEP and routine ophthalmic testing were undertaken. Topographical function of the optic nerve was assessed, utilising tools such as asymmetry deviation and accumap severity index. Results were assessed alongside MRI and visual acuity (VA). From the three patients, five eyes had ONSMs, of which two caused unilateral blindness. The remaining three affected eyes had initial VAs 6/6, 6/24, and 6/18. Over follow up, ranging from 5 to 12â¯years, all tumours progressed, and VA declined for all patients. Multifocal VEP detected optic nerve functional loss corresponding with visual decline. This case series suggests mfVEP is effective in the objective topographic monitoring of optic nerve function in NF2 patients with ONSM. Due also to its safety in a paediatric population, the test may be considered in the routine monitoring of these patients, to be used to assist regular ophthalmic review and MRI scans.
Assuntos
Potenciais Evocados Visuais , Neoplasias Meníngeas/patologia , Meningioma/patologia , Neurofibromatose 2/complicações , Doenças do Nervo Óptico/diagnóstico , Transtornos da Visão/diagnóstico , Adulto , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética/efeitos adversos , Masculino , Neoplasias Meníngeas/complicações , Meningioma/complicações , Pessoa de Meia-Idade , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/patologia , Transtornos da Visão/etiologia , Campos VisuaisRESUMO
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in 3 probands, with small abnormal lenses in 2 of the cases, and cataracts and microphthalmia in 1 case. Next-generation sequencing revealed de novo heterozygous mutations affecting the same codon of GJA8 : (c.281G>A; p.(Gly94Glu) and c.280G>C; p.(Gly94Arg)) in 2 of the probands, in addition to the c.151G>A; p.(Asp51Asn) mutation we had previously identified in the third case. In silico analysis predicted all of the mutations to be pathogenic. These cases show that deleterious, heterozygous mutations in GJA8 can lead to a severe ocular phenotype of total sclerocornea, abnormal lenses, and/or cataracts with or without microphthalmia, broadening the phenotype associated with this gene. GJA8 should be included when investigating patients with the severe anterior segment abnormality of total sclerocornea.
Assuntos
Conexinas/genética , Córnea/anormalidades , Doenças da Córnea/genética , Predisposição Genética para Doença/genética , Mutação , Sequência de Aminoácidos , Sequência de Bases , Córnea/patologia , Doenças da Córnea/patologia , Feminino , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Masculino , Linhagem , Fenótipo , Homologia de Sequência de AminoácidosRESUMO
PurposeTo present longer-term refractive and ocular health outcomes for patients who had primary intraocular lens (IOL) insertion following infant cataract surgery.Patients and methodsA retrospective review of all infant cataract cases at a tertiary children's hospital between 2003 and 2006 was conducted. Surgery was performed before 12 months of age. IOL power was calculated using the SRK/T formula targeting hyperopia based on the child's age; children under 3 months were targeted at +9.0 D, between 3 and 6 months at +6.0 D, and between 6 and 12 months at +3.0 D. Locally weighted scatterplot smoothing and mixed models were used.ResultsA total of 12 eyes from 9 children were included (4 bilateral and 5 unilateral). Spherical equivalent refraction decreased dramatically in the first 2 years of life, with milder changes from age 2 to 4 years and minimal changes thereafter. Cylinder increased until age 5 years at â¼0.57 dioptres/year (95% confidence intervals 0.27-0.87 D, P<0.001). Lens reproliferation was the commonest complication (58%). All children eventually developed strabismus.ConclusionEarly and frequent refraction is critical in the first 2 years of life to try and compensate for the rapid changes encountered in the growing eye. Astigmatism may be another important consequence to manage.
Assuntos
Astigmatismo/fisiopatologia , Extração de Catarata , Implante de Lente Intraocular , Pseudofacia/fisiopatologia , Refração Ocular/fisiologia , Catarata/congênito , Feminino , Seguimentos , Humanos , Lactente , Masculino , Estudos Retrospectivos , Estrabismo/fisiopatologiaRESUMO
INTRODUCTION: We present a case of enhanced S-cone syndrome (ESCS)-associated choroidal neovascularisation (CNV) treated successfully with intravitreal bevacizumab therapy. METHODS/CASE REPORT: A 14-year-old with a known retinal dystrophy presented with acute visual deterioration. Fluorescein angiography demonstrated CNV, and treatment was initiated with an anti-vascular endothelial growth factor (anti-VEGF) agent, with significant improvement in vision. Subsequent electroretinogram examination of the patient and her younger sister showed severely reduced rod responses with accentuated fast cone (S-cone only) response, confirming the diagnosis of ESCS as the underlying dystrophy. CONCLUSION: CNV is a rare complication of ESCS that is responsive to anti-VEGF therapy. Although cystic retinal lesions may develop in patients with retinal dystrophies due to multiple possible aetiologies, CNV is a known cause of macula oedema in these patients that requires treatment with different agents, namely anti-VEGF therapy. Rapid visual loss in patients with inherited retinal disorders should prompt immediate clinical assessment to exclude CNV, and if CNV is detected, anti-VEGF therapy can preserve vision.
Assuntos
Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Neovascularização de Coroide/tratamento farmacológico , Oftalmopatias Hereditárias/complicações , Degeneração Retiniana/complicações , Transtornos da Visão/complicações , Adolescente , Feminino , Humanos , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade VisualRESUMO
Fraser syndrome (FS) and microphthalmia syndromic 9 (MCOPS9) are autosomal recessive conditions with distinct, and some overlapping features affecting the ocular, respiratory and cardiac systems. Mutations in FRAS1 and FREM2 occur in FS, and mutations in STRA6 occur in MCOPS9. We report two sibships, in the same family, where four deceased offspring had ocular, respiratory and cardiac abnormalities. Two sibs with microphthalmia had syndactyly and laryngeal stenosis, suggesting a clinical diagnosis of FS. Our results indicate that they were compound heterozygotes for novel FRAS1 mutations, p.Cys729Phe and p.Leu3813Pro. The other two sibs, first cousins to the first sib pair, had anophthalmia, lung hypoplasia and cardiac anomalies, suggesting a retrospective diagnosis of MCOPS9. Our results indicate compound heterozygous STRA6 mutations, a novel frameshift leading to p.Tyr18* and a p.Thr644Met mutation. The one surviving individual from these sibships is heterozygous for the p.Tyr18*STRA6 mutation and has bilateral ocular colobomata and microphthalmia. This work emphasises the need for careful phenotypic characterisation to determine genes for assessment in ocular syndromic conditions. It also indicates that heterozygous STRA6 mutations may rarely contribute to microphthalmia and coloboma.
Assuntos
Coloboma/genética , Proteínas da Matriz Extracelular/genética , Síndrome de Fraser/genética , Proteínas de Membrana/genética , Microftalmia/genética , Mutação , Adulto , Diagnóstico Diferencial , Feminino , Síndrome de Fraser/patologia , Humanos , Lactente , Masculino , Microftalmia/patologiaAssuntos
Doenças Autoimunes/induzido quimicamente , Vacina BCG/efeitos adversos , Imunoterapia Ativa/efeitos adversos , Doenças Retinianas/induzido quimicamente , Carcinoma de Células de Transição/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Bexiga Urinária/tratamento farmacológico , Acuidade Visual/fisiologiaRESUMO
We here: 1) describe the phenotypic spectrum, including magnetic resonance imaging (MRI) appearances of the pituitary stalk and anterior and posterior pituitary [H-P (hypothalamic-pituitary) axis], in children with optic nerve hypoplasia (ONH) with or without an abnormal septum pellucidum (SP); and 2) define endocrine dysfunction according to the MRI findings. Medical records of 55 children with ONH who had been assessed by ophthalmology and endocrine services were reviewed. All had MRI of the brain and H-P axis. Forty-nine percent of the ONH patients had an abnormal SP on MRI, and 64% had a H-P axis abnormality. Twenty-seven patients (49%) had endocrine dysfunction, and 23 of these had H-P axis abnormality. The frequency of endocrinopathy was higher in patients with an abnormal SP (56%) than a normal SP (39%). Patients were divided into four groups based on SP and H-P axis appearance: 1) both normal; 2) abnormal SP and normal H-P axis; 3) normal SP and abnormal H-P axis; and 4) both abnormal. The frequency of multiple pituitary hormone deficiency was highest (56%) in group 4, lower (35%) in group 3, and even lower (22%) in group 2. Precocious puberty was most common in group 2. None of the patients in group 1 had endocrine dysfunction. Thus, SP and H-P axis appearances on MRI can be used to predict the likely spectrum of endocrinopathy.
Assuntos
Sistema Hipotálamo-Hipofisário/anormalidades , Sistema Hipotálamo-Hipofisário/patologia , Nervo Óptico/anormalidades , Doenças da Hipófise/patologia , Septo Pelúcido/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Nervo Óptico/patologia , Doenças da Hipófise/epidemiologia , Hipófise/anormalidades , Hipófise/patologia , Valor Preditivo dos Testes , Fatores de Risco , Septo Pelúcido/patologiaRESUMO
When a child presents with progressive ataxia, there is a broad differential diagnosis and a very long list of potential investigations. Spinocerebellar ataxia type 7 presenting in infancy is a rare condition where a presumptive diagnosis can be made based on the clinical features alone. These include rapidly progressive ataxia, retinopathy and autosomal dominant inheritance with marked genetic anticipation of paternal origin. The father of the infant may manifest minimal symptoms at a time when the infant is severely affected. Diagnosis is confirmed by the demonstration of an expansion of a CAG repeat in the coding region of the gene on chromosome 3p. We present a case to illustrate the diagnostic difficulties. Antenatal diagnosis was performed in two subsequent pregnancies.
Assuntos
Atrofias Ópticas Hereditárias/etiologia , Retinose Pigmentar/etiologia , Ataxias Espinocerebelares/diagnóstico , Evolução Fatal , Feminino , Humanos , Lactente , Diagnóstico Pré-Natal , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/genética , Expansão das Repetições de TrinucleotídeosRESUMO
PURPOSE: The multifocal visual evoked potential (VEP) shows markedly symmetrical responses between the two eyes of control subjects. Patients with glaucoma and patients considered at high risk for glaucoma were examined to determine if VEP asymmetry could be identified and used for diagnosis and detection of early damage. METHODS: Multifocal pattern VEP recordings were performed using a single channel bipolar occipital electrode position and the Visual Evoked Response Imaging System (VERIS). There were 125 subjects: 24 control subjects, 70 patients with glaucoma, and 31 patients considered at high risk for glaucoma. A between-eye relative asymmetry coefficient (RAC) was determined for each of the 60 test points in the VEP field. The RAC for patients with glaucoma and patients considered at risk for glaucoma were compared with values from control subjects. Correlation between Humphrey thresholds and RAC scores was performed. RESULTS: Patients with glaucoma and patients considered at risk for glaucoma both showed significantly larger mean quadrant RAC values. When point by point analysis was performed, 69 out of 70 scotomas were identified with a cluster of at least 3 points of P < 0.05. For those considered at high risk for glaucoma, 10 out of 31 patients had abnormal areas in the VEP field. There was a strong correlation (r = 0.82) between quadrantic RAC mean values and Humphrey quadrant threshold scores in an asymmetric glaucoma subgroup. Abnormal VEP responses were identified in parts of the visual field that were still normal on perimetry. CONCLUSIONS: Asymmetry analysis correctly identifies patients with glaucomatous field loss and shows abnormalities in many patients considered at high risk for glaucoma who still have normal fields. Asymmetry analysis is able to identify objectively the extent of glaucomatous damage and may be able to detect changes before subjective field loss occurs.
Assuntos
Potenciais Evocados Visuais , Glaucoma de Ângulo Aberto/diagnóstico , Transtornos da Visão/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais , Adolescente , Adulto , Idoso , Doença Crônica , Progressão da Doença , Feminino , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Prognóstico , Reprodutibilidade dos Testes , Transtornos da Visão/fisiopatologiaRESUMO
The introduction of multifocal stimulus recording has enhanced our ability to examine the human visual field with electrophysiologic techniques. We have adapted the multifocal pattern visual evoked potential (PVEP) to detect visual field loss. In glaucoma patients we sought to determine the extent to which the PVEP amplitudes correlate with perimetric thresholds. Multifocal pseudorandomly alternated pattern stimuli, which were cortically scaled in size, were presented with use of the VERIS-Scientific system. Bipolar occipital straddle electrode positions were used. The visual field up to 25 degrees of eccentricity was investigated. Forty-three glaucoma patients with reproducible visual field defects were tested. The bipolar PVEP corresponded well with Humphrey visual field defects, showing loss of signal in the scotoma area. For Humphrey quadrant threshold totals and PVEP quadrant amplitudes, the correlation coefficient was strong (r = 0.49, P < 0.0001). The multifocal PVEP demonstrates good correspondence with the topography of the visual field. This technique represents the first practical application of the multifocal PVEP to objective detection of visual field defects in glaucoma.
Assuntos
Glaucoma de Ângulo Aberto/diagnóstico , Testes de Campo Visual/métodos , Campos Visuais , Doença Crônica , Potenciais Evocados Visuais , Glaucoma de Ângulo Aberto/complicações , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Processamento de Imagem Assistida por Computador , Pressão Intraocular , Estimulação Luminosa , Reprodutibilidade dos Testes , Escotoma/diagnóstico , Escotoma/etiologia , Escotoma/fisiopatologia , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
PURPOSE/METHODS: To improve the performance of visual-evoked potentials (VEP) in the assessment of the human visual field, the multi-focal cortically scaled pattern VEP was recorded up to 250 of eccentricity in normal subjects. Monopolar and varying bipolar electrode positions were used. RESULTS: The monopolar response was strongly biased towards the lower hemifield. Bipolar leads straddling the inion (2 cm above and below) achieved approximately equal signals from the upper and lower visual field. Division into sectors of similar wave-form augments the analysis compared with summed full-field responses. CONCLUSION: With this technique, the multi-focal VEP can be used to objectively assess the visual field.
Assuntos
Eletrodos , Potenciais Evocados Visuais/fisiologia , Campos Visuais/fisiologia , Córtex Cerebral/anatomia & histologia , Humanos , Oftalmologia/métodosRESUMO
PURPOSE: To investigate the relationships between the pattern stimulation of different parts of the visual field (up to 25 degrees of eccentricity), the electrode position, and the cortical response to improve objective detection of local visual field defects. METHODS: The human visual evoked potential (VEP) was assessed using multifocal pseudorandomly alternated pattern stimuli that were cortically scaled in size. Monopolar and bipolar electrode positions were used. The visual field was investigated up to 26 degrees of eccentricity. Twelve normal subjects and seven subjects with visual field defects of different nature were studied. RESULTS: Although the monopolar response is heavily biased toward the lower hemifield, bipolar leads overlying the active occipital cortex (straddling the inion) demonstrate good signals from all areas of the visual field tested. The amplitude is almost equal for the averaged upper and lower hemifields, but the polarity is opposite, causing partial cancellation of the full-field VEP. The degree of cancellation depends mainly on latency differences between the vertical hemifields. The bipolar VEP corresponded well with Humphrey visual field defects, and it showed a loss of signal in the scotoma area. CONCLUSIONS: The multifocal VEP demonstrates good correspondence with the topography of the visual field. Recording with occipital bipolar electrode placement is superior to standard monopolar recording. To avoid a full-field cancellation effect, a separate evaluation of upper and lower hemifields should be used for the best assessment of retinocortical pathways. This technique represents a significant step toward the possible application of the multifocal VEP to objective detection of local defects in the visual field.
Assuntos
Potenciais Evocados Visuais , Transtornos da Visão/diagnóstico , Campos Visuais , Adulto , Idoso , Eletrodos , Potenciais Evocados Visuais/fisiologia , Feminino , Lobo Frontal/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Lobo Occipital/fisiologia , Reconhecimento Visual de Modelos , Transtornos da Visão/fisiopatologiaRESUMO
PURPOSE: To determine the visual and cosmetic outcome following the surgical correction of isolated congenital ptosis. METHODS: A retrospective review of the outcome of isolated congenital ptosis corrected under the supervision of one surgeon at The Children's Hospital, Camperdown, between January 1983 and January 1993 was examined. Some 65 patients with 80 involved eyes were identified; 30 eyes underwent a levator resection procedure, 40 eyes underwent a brow suspension using donor stored fascia lata, and in 10 eyes a brow suspension was performed using mersilene mesh. RESULTS: In 78 eyes of 63 patients, a good cosmetic result was achieved. In two patients (two eyes) a poor cosmetic result was achieved. These two patients refused further surgery following an undercorrection of their initial ptosis. The recurrence rates for the primary procedures were 16.7% for levator resection procedures, 35% for brow suspension procedures using donor fascia lata, and 30% for brow suspension surgery using mersilene mesh. Some 35.3% of eyes following mersilene slings required further surgery for granulomas and exposed mersilene mesh compared with 6% having similar complications with stored fascia lata. Nine patients (11.25%) had reduced visual acuity (one line or more on the Snellen chart or its equivalent with the other tests used) on the operated side. Only one patient was found to have significant astigmatism. CONCLUSIONS: An acceptable cosmetic result was achieved with one operation in 75.3% of cases. In 20.8% of cases a second operation was required and in 3.9% of cases three or more operations were required. This series supports the view that where possible, levator resection is the preferred form of surgery to correct congenital ptosis. When the levator function is inadequate, brow suspension is performed. The use of donor fascia lata resulted in a good cosmetic appearance with a low occurrence of surgical side effects. Amblyopia, when strictly defined, occurred in 11.25% of eyes despite early surgery for severe cases and intensive amblyopia therapy. Management requires repeated follow up for early detection and introduction of occlusion therapy or surgical ptosis correction.
Assuntos
Blefaroplastia/métodos , Blefaroptose/congênito , Blefaroptose/cirurgia , Pálpebras/cirurgia , Adolescente , Criança , Pré-Escolar , Sobrancelhas/cirurgia , Fascia Lata/transplante , Humanos , Lactente , Complicações Intraoperatórias , Músculos Oculomotores/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Acuidade VisualRESUMO
In a 2-year retrospective study, suicide prevention efforts produced a significant reduction in suicide attempts at a U.S. Navy training command. Evidence was presented that suicide prevention may be a more pressing issue at training commands than operational commands. The approach described here focused on instructors rather than on the students who were the usual patients presenting with suicidal ideation or attempts. Instructors were taught how to identify and help individuals at risk and how to get help for them.
Assuntos
Militares , Psiquiatria Militar/métodos , Prevenção do Suicídio , Adolescente , Adulto , Humanos , Psiquiatria Militar/educação , Psiquiatria Militar/normas , Avaliação de Programas e Projetos de Saúde , Estudos Retrospectivos , Suicídio/psicologia , Suicídio/estatística & dados numéricosRESUMO
Since steroid-induced psychoses often appear as mood disorders and since catatonia may be associated with psychotic mood disorders, the possibility exists for a steroid-induced psychotic mood disorder to present with associated catatonia. In a computer review of the medical literature, however, I found no such cases in adult patients. This report is presented as a possible case of steroid-induced catatonia in a 62-year-old woman following treatment with melphalan, prednisone, and cimetidine for multiple myeloma of the IgA class with associated mild hypercalcemia.