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1.
Neurol Sci ; 43(5): 2969-2981, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35239052

RESUMO

Eye movements serve vision in orienting gaze toward an object of interest in order to place its image simultaneously on both foveas and in stabilizing gaze relative to the environment in order to maintain fixation on the object of interest, even in the case of body displacement. Disorders of eye movements can interfere with ocular alignment and/or monocular motility, and result in diplopia, which is the most common symptom. Eye movement disorders can also interfere with binocular motility without ocular misalignment and result in gaze palsy. Finally, disorders of eye movement can interfere with ocular stability during fixation or body displacement and result in oscillopsia, which is an illusion of an unstable visual world. A systematic examination of eye movements should be part of the neurological exam in order to detect asymptomatic manifestations that can help for the diagnosis of multiple neurological pathologies. In the case of eye movement disorders, the goals of the examination are to precisely characterize the disorder of motility, alignment, or stability, in order to finally localize anatomically the lesion among the peripheral ocular motor system or the more complex central eye movement neural network and suggest mechanisms and etiologies. In this review, we are describing the standard methods of ocular motor examination, including a "general" approach to any ocular motor assessment, and also the specific approaches to evaluating ocular misalignment, difficulty moving both eyes, and finally unstable gaze. This article will include practical tips on how to perform the tests most effectively or how to interpret the clinical signs elicited.


Assuntos
Movimentos Oculares , Transtornos da Motilidade Ocular , Fixação Ocular , Humanos , Exame Neurológico , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Transtornos da Visão
2.
Indian J Ophthalmol ; 70(3): 958-961, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35225550

RESUMO

PURPOSE: To report the ocular features of patients with PD who presented with visual complaints to a tertiary eye care center. METHODS: This was a retrospective study carried out between January 2015 and March 2020 at the Neuro-Optometry clinic of a tertiary eye care center in Southern India. All PD patients with ocular complaints examined by the neuro- ophthalmologists were referred to Neuro-Optometry Clinic for detailed evaluation. Patients with other neurodegenerative disorders, brain injury, and other causes of vision loss or extraocular motility disorders were excluded. RESULTS: A total of 43 patients (7 females, 36 males) between 50 and 86 years of age (mean: 70 ± 8.9 years) with a mean duration of PD of 4.5 ± 4.5 years were studied. Decreased vision associated with reading difficulty (40%) was common in PD patients. In terms of gaze restriction, vertical gaze involvement (35%) was more than horizontal involvement (7%). Convergence insufficiency (CI) was the most common binocular vision dysfunction (30%), followed by CI with oculomotor dysfunction (14%) and vertical gaze palsy (18%). Ground prisms were recommended for 26 patients (61%) and home vision therapy for 5 patients (12%) as corrective measures. CONCLUSION: Binocular vision dysfunction is highly prevalent among PD patients. This could potentially contribute to the reading difficulties and double vision encountered by these patients. Assessment of binocular vision and oculomotor parameters thus becomes important to understand and manage the reading difficulties in patients with PD.


Assuntos
Transtornos da Motilidade Ocular , Optometria , Doença de Parkinson , Estrabismo , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/epidemiologia , Transtornos da Motilidade Ocular/etiologia , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia , Estudos Retrospectivos , Estrabismo/complicações , Visão Binocular
3.
Exp Brain Res ; 240(3): 861-869, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35067725

RESUMO

PURPOSE: Oblique saccades often display component stretching, in which the shorter vector in one cardinal direction is slowed so that its duration matches that of the longer vector in the orthogonal direction, resulting in a straighter trajectory. In internuclear ophthalmoplegia, adducting saccades are typically slowed while vertical saccades are unaffected. It is not known whether these slowed adducting movements are accompanied by adaptive component stretching of the vertical vector during oblique saccades. This was a cross-sectional study. We recorded the saccadic eye movement in 5 patients with right or bilateral internuclear ophthalmoplegia from multiple sclerosis and 17 healthy controls, using an EyeLink 1000 machine. The target stimulus was located at varying angles (0-360) and amplitudes (4, 8, 12 degrees). For each saccade we have calculated the curvature index as the main outcome measure, which is the area between the actual and ideal straight trajectory for oblique saccadic eye movements, divided by the square of the length of the straight trajectory, to give a unit-less metric for curvature. In the 17 control subjects, curvature showed a strong positive correlation between adducting saccades and the yoked abducting saccades of the other eye. In internuclear ophthalmoplegia, adducting saccades showed a strong curvature concave to the horizontal meridian, indicating inadequate component stretching, while abducting saccades did not differ from controls. This new sign of oblique saccadic curvature in internuclear ophthalmoplegia indicates a limitation of the range of central adaptive changes in response to distal lesions affecting transmission of the saccadic command.


Assuntos
Esclerose Múltipla , Transtornos da Motilidade Ocular , Estudos Transversais , Humanos , Esclerose Múltipla/complicações , Transtornos da Motilidade Ocular/etiologia , Movimentos Sacádicos
5.
J Formos Med Assoc ; 121(4): 736-748, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34561118

RESUMO

Neurometabolic diseases are complex group of rare neurogenetic disorders, which are difficult to diagnose. Patients may have toxic metabolite accumulation, inadequate energy supply, or neurotransmitter deficiency, resulting in a variety of clinical manifestations and severity with enzyme activity or transporter function defects. Multiple organ involvement is frequently seen, among which neurological symptoms and signs are one of the most encountered problems. Ocular motor problems deserve special attention for it occurs in some inborn error of metabolism. Furthermore, some are early signs or characteristic findings of certain diseases, such as the gaze palsy in Niemann-Pick disease type C and Gaucher disease or oculogyric crisis in neurotransmitter diseases. Early recognition and intervention are important for better prognosis in treatable neurometabolic disorders. In addition, ways to evaluate and describe eye movement problems also help to demonstrate the severity or clinical progression for those diagnosed with certain neurometabolic diseases. However, the complexity of eye movement and ocular motor control renders our clinical observation, recording and even anatomic localization of abnormal eye movements. Clinicians are more likely to detect early signs and unravel problems by gaining awareness of abnormal eye movement. This study amied to approach neurometabolic diseases in children via eye motor manifestations.


Assuntos
Doença de Niemann-Pick Tipo C , Transtornos da Motilidade Ocular , Criança , Humanos , Doença de Niemann-Pick Tipo C/diagnóstico , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia
7.
Neurol Res ; 44(5): 439-445, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-34781837

RESUMO

OBJECTIVE: To evaluate benefits of binocular vision and ocular motility training in patients with long-term sequelae after mild traumatic brain injury (mTBI). METHODS: Twenty-eight mTBI (concussion) patients from 25 to 61 years of age with oculomotor dysfunction were selected by optometric examination. The vision therapy was designed to improve convergence, pursuit and saccades as well as to increase fusional reserves. The vision therapy was conducted by a neurooptometrist and a speech therapist, and took place weekly for 1 hour during 10 continuous weeks. Between vision training sessions, patients trained at home for 15-20 minutes daily. Before and after vision therapy, patients completed a test battery including the Groffman Visual Tracing Test, King-Devick test (K-D), a reading speed test, Multidimensional Fatigue Inventory (MFI-20) and patient interviews based on a modified version of the Canadian Occupational Performance Measure (COPM). RESULTS: Twenty-seven patients completed the vision therapy. After the therapy, improvements were measured on all test parameters, e.g. Groffman Visual Tracing Test (p < 0.05), K-D-Test (p = 0.01), Reading Speed Test (p < 0.01) and MFI-20 total (p < 0.05). The results for the modified COPM were significantly improved for both performance and satisfaction (0.0001 < p < 0.01). CONCLUSION: Vision therapy improved fixation stability and endurance. Reading speed measured by the numbers of saccades and regressions time consumption per read word increased. There was also an improvement in visual attention, possibly making patients safer in traffic and outdoor activities.


Assuntos
Concussão Encefálica , Transtornos da Motilidade Ocular , Concussão Encefálica/complicações , Concussão Encefálica/diagnóstico , Concussão Encefálica/terapia , Canadá , Humanos , Transtornos da Motilidade Ocular/etiologia , Transtornos da Motilidade Ocular/terapia , Transtornos da Visão/complicações , Transtornos da Visão/terapia , Visão Binocular
8.
J Pediatr Ophthalmol Strabismus ; 59(1): 28-34, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34435906

RESUMO

PURPOSE: To determine whether fusional vergence adaptation in patients who can fuse in at least some gaze positions can cause curvature of the non-fixing eye movement paths of patients with apparent "overaction" or "underaction" of the oblique muscles, yielding possibly erroneous evidence of hypertonicity as the cause of the overaction or underaction. METHODS: The authors retrospectively studied Lancaster red-green plots of patients with oblique muscle "overaction/underaction." If fusion was present, the plot had usually been repeated after monocular occlusion for at least 30 minutes. Fundus torsion and fusion status were also recorded. RESULTS: After a patch test in patients displaying fusion, the non-fixing eye's movement path became more linear. CONCLUSIONS: Although it has been argued that true overaction of the oblique muscles would show curved eye movement paths on side gazes, in the study patients displaying fusion in at least some directions of gaze, the eye movement paths became more linear after patch testing, favoring the more mechanical explanation. Illustrated cases were consistent with the hypothesis that short inferior oblique muscles simply hold the globes in extorted positions, and the appearance of inferior oblique muscle "overaction" arises from the eyes' following their extorted movement paths on side gazes, not from hypertonicity of the inferior oblique muscle in the adducting eye. [J Pediatr Ophthalmol Strabismus. 2022;59(1):28-34.].


Assuntos
Transtornos da Motilidade Ocular , Estrabismo , Movimentos Oculares , Humanos , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Músculos Oculomotores , Procedimentos Cirúrgicos Oftalmológicos , Estudos Retrospectivos , Estrabismo/etiologia , Estrabismo/cirurgia , Resultado do Tratamento
9.
J Neuroophthalmol ; 42(1): e448-e449, 2022 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-34270515

RESUMO

ABSTRACT: A 78-year-old man was evaluated for altered mentation in the setting of significant uremia. On examination, he was found to be encephalopathic with generalized myoclonus and spontaneous opsoclonus. He had no known risk factors for the development of opsoclonus and upon undergoing hemodialysis, experienced near resolution of his eye movement abnormalities, thus highlighting a possible link between the uremic state and opsoclonus.


Assuntos
Transtornos da Motilidade Ocular , Uremia , Idoso , Feminino , Humanos , Masculino , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Diálise Renal/efeitos adversos , Uremia/complicações , Uremia/terapia
10.
J AAPOS ; 26(1): 2.e1-2.e5, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35032654

RESUMO

PURPOSE: To investigate acute eye symptoms in healthy children after a typical day of virtual school during the COVID-19 pandemic. METHODS: The study population included 110 healthy children 10-17 years of age who were enrolled in full-time or hybrid virtual school. Children with a history of central nervous system or ocular pathology, recent concussions, reported poor vision, convergence insufficiency, history of orthoptic therapy, strabismus, amblyopia, or learning disorders were excluded. Background information was collected, including demographics, family and personal ocular history, and virtual school specifications. Eligible children completed a modified convergence insufficiency symptom survey (CISS) and an asthenopia survey before and after a virtual school session. CISS and asthenopia survey symptoms were scored, and the differences in symptomatology before and after school were calculated. RESULTS: The average sum of the CISS scores increased from 5.17 before school to 9.82 after (P < 0.001), with 61% of children recording an increase in convergence insufficiency symptoms and 17% experiencing severe convergence insufficiency symptoms after school. Average asthenopia symptom scores increased from 1.58 to 2.74 (P < 0.001), with 53% of children recording an increase in asthenopia symptoms. Significant increases were seen in 12 of 15 CISS questions and in 4 of 5 asthenopia questions. CONCLUSIONS: In this study cohort, otherwise healthy children experienced acute ocular symptoms following virtual school.


Assuntos
COVID-19 , Transtornos da Motilidade Ocular , Acomodação Ocular , COVID-19/epidemiologia , Criança , Convergência Ocular , Humanos , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/epidemiologia , Transtornos da Motilidade Ocular/etiologia , Pandemias , Instituições Acadêmicas , Visão Binocular/fisiologia
12.
BMJ Case Rep ; 14(10)2021 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-34642217

RESUMO

A primary intraventricular haemorrhage (PIVH) usually presents with non-localised neurological symptoms since the haematoma is limited to the ventricles. However, it is sometimes associated with focal neurological signs, whose pathophysiologies are not confirmed. Here, we report on a case of PIVH who showed rare manifestations in the acute stage: upward gaze palsy and convergence insufficiency. The CT and MRI showed intraventricular haematoma without evidence of parenchymal haemorrhage, local mass effect around midbrain or hydrocephalus. There had been bilateral papilloedema, and it resolved along with improvement of the ophthalmic symptoms, suggesting a possible causal relation to increased intracranial pressure. The ophthalmic abnormalities suggested injury of the rostral part of the midbrain, especially the region around the dorsal midbrain tectum. It should be known that PIVH is one of the causes of acutely developing upward gaze palsy and convergence insufficiency.


Assuntos
Transtornos da Motilidade Ocular , Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico por imagem , Ventrículos Cerebrais , Humanos , Mesencéfalo , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Paralisia
13.
Neurol India ; 69(4): 1002-1004, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34507429

RESUMO

Wall-eyed monocular internuclear ophthalmoplegia (WEMINO) is a rare variant of internuclear ophthalmoplegia (INO), consisting of unilateral INO and ipsilateral exotropia. This distinctive syndrome is probably associated with damage to the medial longitudinal fasciculus. However, WEMINO caused by a midbrain lesion has not been previously reported. We herein report a 50-year-old man presenting with WEMINO and vertical gaze dysfunction resulting from infarction of the midbrain tegmentum.


Assuntos
Exotropia , Transtornos da Motilidade Ocular , Oftalmoplegia , Humanos , Infarto , Masculino , Mesencéfalo/diagnóstico por imagem , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/etiologia
14.
BMJ Case Rep ; 14(9)2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34479896

RESUMO

Eight-and-a-half syndrome is a rare entity characterised by conjugate horizontal gaze palsy, ipsilateral internuclear ophthalmoplegia and ipsilateral lower motor neuron type facial palsy. It is due to a lesion affecting median longitudinal fasciculus, paramedian pontine reticular formation and facial nerve fascicle on the same side at the level of pons. The diagnosis is easily missed as it needs detailed ocular movement examination. It is mainly caused due to infarction or demyelinating conditions. We are reporting an interesting case of a 54-year-old man with right-side eight-and-a-half syndrome due to acute ischaemic stroke and ST-elevation myocardial infarction of the inferior wall.


Assuntos
Isquemia Encefálica , Paralisia Facial , Transtornos da Motilidade Ocular , Oftalmoplegia , Acidente Vascular Cerebral , Paralisia Facial/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Ponte/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/etiologia
15.
BMJ Case Rep ; 14(9)2021 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-34521743

RESUMO

A 48-year-old woman presented with sudden-onset altered sensorium 2 days after a snake bite (unidentified species) and was found to have a large right frontal intracerebral haemorrhage (ICH) with transtentorial herniation (TTH) causing brain stem compression. A day later, neurological examination revealed internuclear ophthalmoplegia (INO) fitting the clinical description of wall eyed bilateral INO syndrome. INO is a rare ocular motor sign, the most common causes being brain stem infarction, haemorrhage or demyelinating disease. It rarely acts as a false localising sign, such as in this case, and in an even rarer cause for ICH, that is, haemotoxic snake bite without initial evidence of coagulopathy. An emphasis needs to be laid on detailed physical examination, often considered a lost art nowadays, to help detect subtle clinical signs which could herald ominous complications of conditions like TTH and help in early diagnosis and treatment of the same.


Assuntos
Infartos do Tronco Encefálico , Transtornos da Motilidade Ocular , Oftalmoplegia , Mordeduras de Serpentes , Feminino , Humanos , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/etiologia , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Mordeduras de Serpentes/complicações , Síndrome
16.
Scand J Trauma Resusc Emerg Med ; 29(1): 97, 2021 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-34281596

RESUMO

BACKGROUND: In acute ischemic stroke, conjugated eye deviation (CED) is an evident sign of cortical ischemia and large vessel occlusion (LVO). We aimed to determine if an emergency dispatcher can recognise LVO stroke during an emergency call by asking the caller a binary question regarding whether the patient's head or gaze is away from the side of the hemiparesis or not. Further, we investigated if the paramedics can confirm this sign at the scene. In the group of positive CED answers to the emergency dispatcher, we investigated what diagnoses these patients received at the emergency department (ED). Among all patients brought to ED and subsequently treated with mechanical thrombectomy (MT) we tracked the proportion of patients with a positive CED answer during the emergency call. METHODS: We collected data on all stroke dispatches in the city of Tampere, Finland, from 13 February 2019 to 31 October 2020. We then reviewed all patient records from cases where the dispatcher had marked 'yes' to the question regarding patient CED in the computer-aided emergency response system. We also viewed all emergency department admissions to see how many patients in total were treated with MT during the period studied. RESULTS: Out of 1913 dispatches, we found 81 cases (4%) in which the caller had verified CED during the emergency call. Twenty-four of these patients were diagnosed with acute ischemic stroke. Paramedics confirmed CED in only 9 (11%) of these 81 patients. Two patients with positive CED answers during the emergency call and 19 other patients brought to the emergency department were treated with MT. CONCLUSION: A small minority of stroke dispatches include a positive answer to the CED question but paramedics rarely confirm the emergency medical dispatcher's suspicion of CED as a sign of LVO. Few patients in need of MT can be found this way. Stroke dispatch protocol with a CED question needs intensive implementation.


Assuntos
Operador de Emergência Médica , Acidente Vascular Cerebral/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Serviços Médicos de Emergência , Feminino , Finlândia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/etiologia , Estudos Retrospectivos
18.
Neurologist ; 26(4): 153-155, 2021 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-34190210

RESUMO

INTRODUCTION: Wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) is a rare variation of internuclear ophthalmoplegia associated with bilateral lesions of the medial longitudinal fasciculus. CASE REPORT: In this case, the edematous lesions of the ipsilateral midbrain infarction appeared to compress the contralateral medial longitudinal fasciculus, resulting in WEBINO. Treatment of focal cerebral edema caused by ischemic stroke is still under debate. However, in this case, antiedema treatment was implemented to prevent the sequelae of the edematous lesion caused by a midbrain infarction, and a relatively rapid improvement of ocular symptoms was observed. CONCLUSION: Herein, we report a rare case of WEBINO caused by a unilateral midbrain infarction in which the patient experienced edema-related neurological deficits. This case provides evidence that early antiedema therapy may benefit patients with similar presentations.


Assuntos
Transtornos da Motilidade Ocular , Acidente Vascular Cerebral , Humanos , Infarto , Mesencéfalo/diagnóstico por imagem , Transtornos da Motilidade Ocular/etiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagem
19.
Brain Behav ; 11(7): e02184, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34056874

RESUMO

INTRODUCTION: Clinical diagnosis of Parkinsonism is still challenging, and the diagnostic biomarkers of Multiple System Atrophy (MSA) are scarce. This study aimed to investigate the diagnostic value of the combined eye movement tests in patients with Parkinson's disease (PD) and those with MSA. METHODS: We enrolled 96 PD patients, 33 MSA patients (18 with MSA-P and 15 with MSA-C), and 40 healthy controls who had their horizontal ocular movements measured. The multiple-step pattern of memory-guided saccade (MGS), the hypometria/hypermetria of the reflexive saccade, the abnormal saccade in smooth pursuit movement (SPM), gaze-evoked nystagmus, and square-wave jerks in gaze-holding test were qualitatively analyzed. The reflexive saccadic parameters and gain of SPM were also quantitatively analyzed. RESULTS: The MGS test showed that patients with either diagnosis had a significantly higher incidence of multiple-step pattern compared with controls (68.6%, 65.2%, and versus. 2.5%, p < .05, in PD, MSA, versus. controls, respectively). The reflexive saccade test showed that MSA patients showing a prominent higher incidence of the abnormal saccade (63.6%, both hypometria and hypermetria) than that of PD patients and controls (33.3%, 7.5%, respectively, hypometria) (p < .05). The SPM test showed PD patients had mildly decreased gain among whom 28.1% presenting "saccade intrusions"; and that MSA patients had the significant decreased gain with 51.5% presenting "catch-up saccades"(p < .05). Only MSA patients showed gaze-evoked nystagmus (24.2%), square-wave jerks (6.1%) in gaze-holding test (p < .05). CONCLUSIONS: A panel of eye movements tests may help to differentiate PD from MSA. The combined presence of hypometria and hypermetria in saccadic eye movement, the impaired gain of smooth pursuit movement with "catch-up saccades," gaze-evoked nystagmus, square-wave jerks in gaze-holding test, and multiple-step pattern in MGS may provide clues to the diagnosis of MSA.


Assuntos
Atrofia de Múltiplos Sistemas , Transtornos da Motilidade Ocular , Doença de Parkinson , Movimentos Oculares , Humanos , Atrofia de Múltiplos Sistemas/diagnóstico , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/etiologia , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Movimentos Sacádicos
20.
Nephron ; 145(4): 445-450, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33975323

RESUMO

The MAFB gene encodes an important basic leucine zipper transcription factor that functions in glomerular podocytes, macrophages, and osteoclasts. Recently, MAFB was identified as the gene that was responsible for causing nephropathy with focal segmental glomerulosclerosis (FSGS) with multicentric carpotarsal osteolysis (MCTO) or Duane retraction syndrome (DRS). Here, we describe a patient with nephropathy associated with FSGS who exhibited a novel stop-gain variant in the MAFB gene (NM_005461:c.590C>A (p.Ser197Ter)). The patient's father exhibited proteinuria with FSGS with possible DRS, whereas the patient exhibited nephropathy with FSGS and nearly normal eye movement and hearing function, as well as intact bone structure in the extremities. Conventional oral steroids or immunosuppressive drugs have not demonstrated effectiveness for patients with nephropathy who exhibit pathogenic variants in MAFB, except for a patient with nephropathy with FSGS and MCTO who experienced attenuated proteinuria within the subnephrotic range in response to cyclosporine A (CyA) treatment for at least 4 years. Thus, we attempted administration of CyA in our patient. Unexpectedly, the patient demonstrated good and rapid responses to CyA, including a partial reduction in proteinuria from approximately 2.0 g/g Cr to proteinuria within the subnephrotic range (0.27 g/g Cr) after 13 months of observation. Our findings suggest that CyA may be a suitable treatment option for patients with nephropathy with FSGS who exhibit pathogenic MAFB variants.


Assuntos
Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Fator de Transcrição MafB/imunologia , Adulto , Idade de Início , Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Glomerulosclerose Segmentar e Focal/patologia , Humanos , Falência Renal Crônica/etiologia , Masculino , Transtornos da Motilidade Ocular/etiologia
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