RESUMO
A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.
Assuntos
Homocistinúria , Acidente Vascular Cerebral , Tromboembolia , Trombose , Masculino , Criança , Humanos , Adolescente , Homocistinúria/complicações , Homocistinúria/diagnóstico , Homocistinúria/terapia , Resultado do Tratamento , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/terapia , Trombose/complicaçõesRESUMO
Homocystinuria is a treatable autosomal recessive inherited disorder. This condition may cause life-threatening complications such as thromboembolic events. Coronavirus disease 2019 (COVID-19) is associated with an increased risk of venous thromboembolic events. Here, we report a case of late diagnosis of homocystinuria presenting with deep venous thrombosis and COVID-19. This study highlights a sustained high index of suspicion for homocystinuria to prevent severe thromboembolic complications.
Assuntos
COVID-19 , Homocistinúria , Adolescente , Teste para COVID-19 , Diagnóstico Tardio , Homocistinúria/complicações , Homocistinúria/diagnóstico , Humanos , MasculinoRESUMO
BACKGROUND: Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography. RESULTS: Ten patients with HCU (20 eyes) were included. The most frequent findings were ectopia lentis(n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism. CONCLUSIONS: Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU.
Assuntos
Astigmatismo/patologia , Ectopia do Cristalino/patologia , Homocistinúria/complicações , Miopia/patologia , Adolescente , Adulto , Astigmatismo/etiologia , Ectopia do Cristalino/etiologia , Feminino , Humanos , Masculino , Miopia/etiologia , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
We report a case of a 61-years-old woman in remission of psoriasis for 20 years. She presented recurrence of psoriasis in the form of plaques few days after taking L-methylfolate 15mg/day. The L-methylfolate was prescribed as an adjuvant for the treatment of depression in a patient with the methylenetetrahydrofolate reductase gene polymorphism (MTHFR).
Assuntos
Depressão/tratamento farmacológico , Homocistinúria/complicações , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/complicações , Psoríase/induzido quimicamente , Qualidade de Vida , Tetra-Hidrofolatos/administração & dosagem , Feminino , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-Idade , Polimorfismo Genético , Transtornos Psicóticos/complicações , Recidiva , Tetra-Hidrofolatos/uso terapêutico , Resultado do TratamentoRESUMO
INTRODUCTION: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. CLINICAL CASE: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous con gestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. CONCLUSIONS: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.
Assuntos
Anticoagulantes/uso terapêutico , Enoxaparina/uso terapêutico , Homocistinúria/diagnóstico , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/diagnóstico , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/etiologia , Feminino , Marcadores Genéticos , Homocistinúria/complicações , Homocistinúria/genética , Homozigoto , Humanos , Recém-Nascido , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Espasticidade Muscular/complicações , Espasticidade Muscular/genética , Mutação , Transtornos Psicóticos/complicações , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/genética , Trombose dos Seios Intracranianos/tratamento farmacológicoRESUMO
Resumen: Introducción: La trombosis senovenosa cerebral neonatal (TSVC), es una patología rara y generalmente grave, de la cual se conoce poco sobre los mecanismos fisiopatológicos responsables y, aunque controvertido, se ha sugerido que la trombofilia genética, puede desempeñar un rol en la patogénesis. Debido a los temores de un sangrado intracraneal el tratamiento anticoagulante con heparina de bajo peso mole cular es controvertido. Objetivo: presentar un recién nacido con una trombosis senovenosa cerebral neonatal, discutir los factores de riesgo trombofílico, y el manejo con heparina de bajo peso molecu lar de la trombosis venosa cerebral. Caso Clínico: Recién nacido de término que debutó a los 8 días de vida con convulsiones clónicas, rechazo al pecho más hipoactividad motora. La neuroimagen con RM mostró una TSVC involucrando múltiples senos venosos, un infarto hemorrágico talámico dere cho y congestión venosa de la sustancia blanca frontal. El estudio de trombofilia puso de relieve una mutación homocigota del gen MTHFR C677T. El tratamiento con heparina de bajo peso molecular se asoció a repermeabilización del seno sagital superior a los 23 días de iniciada la terapia. Conclusio nes: La presentación clínica de la TSVC en el neonato es inespecífica, probablemente en relación con la extensión y gravedad de la lesión y el desarrollo de complicaciones asociadas, como infartos he morrágicos venosos intraparenquimatosos o hemorragia intraventricular. Estas complicaciones son detectables mediante Ecografia o Resonancia Magnética, y deben hacer sospechar una TSVC. En esta experiencia el tratamiento anticoagulante mostró ser seguro y prevenir la extensión de la trombosis.
Abstract: Introduction: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. Objective: To present a case of a newborn with neonatal CSNT, to analyze the thrombophilic risk factors, and the management of cerebral venous thrombosis with low-molecular-weight heparin. Clinical Case: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous congestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. Conclusions: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.
Assuntos
Humanos , Feminino , Recém-Nascido , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/etiologia , Enoxaparina/uso terapêutico , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Homocistinúria/diagnóstico , Espasticidade Muscular/diagnóstico , Anticoagulantes/uso terapêutico , Transtornos Psicóticos/complicações , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/genética , Trombose dos Seios Intracranianos/tratamento farmacológico , Marcadores Genéticos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Homocistinúria/complicações , Homocistinúria/genética , Homozigoto , Espasticidade Muscular/complicações , Espasticidade Muscular/genética , MutaçãoRESUMO
ABSTRACT We report a case of a 61-years-old woman in remission of psoriasis for 20 years. She presented recurrence of psoriasis in the form of plaques few days after taking L-methylfolate 15mg/day. The L-methylfolate was prescribed as an adjuvant for the treatment of depression in a patient with the methylenetetrahydrofolate reductase gene polymorphism (MTHFR).
RESUMO Paciente do sexo feminino, 61 anos, em remissão da psoríase por 20 anos. Apresentou recidiva de psoríase em forma de placas poucos dias após início de tratamento L-metilfolato na dose diária de 15mg. O L-metilfolato foi prescrito como terapêutica coadjuvante para tratamento de depressão em paciente portadora do polimorfismo do gene metilenotetrahidrofolato redutase.
Assuntos
Humanos , Feminino , Psoríase/induzido quimicamente , Qualidade de Vida , Tetra-Hidrofolatos/administração & dosagem , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Depressão/tratamento farmacológico , Homocistinúria/complicações , Espasticidade Muscular/complicações , Polimorfismo Genético , Transtornos Psicóticos/complicações , Recidiva , Tetra-Hidrofolatos/uso terapêutico , Resultado do Tratamento , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-IdadeRESUMO
ABSTRACT Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Keratoconus is an ophthalmologic condition characterized by thinning of the corneal stroma, which causes the cornea to assume a conical shape. There is little information in the scientific literature about the association between keratoconus and homocystinuria. We believe that a collagen cross-linking defect may be the key to understand the connection between these two conditions. This case report describes a 38-year-old male patient with a diagnosis of classical homocystinuria since age 13. At the age of 16, he received a diagnosis of asymmetrical keratoconus when referred for lensectomy with vitrectomy of his left eye. To the best of our knowledge, this is the first report of a patient with simultaneous homocystinuria and keratoconus.
RESUMO Homocistinúria é parte de um grupo de doenças genéticas chamado erros inatos do metabolismo. É caracterizada por uma deficiência da enzima que converte a homocisteína em cistationina. O ceratocone é uma patologia oftalmológica caracterizada pelo afinamento do estroma corneano, o que faz com que a córnea assuma um formato cônico. Há pouca informação na literatura científica sobre a associação entre ceratocone e homocistinúria. Acreditamos que um defeito no cross-linking do colágeno possa ser a chave para entender a conexão entre estas duas condições. Este relato de caso descreve um paciente masculino de 38 anos com diagnóstico de homocistinúria clássica desde os 13 anos. Aos 16 anos, recebeu o diagnóstico de ceratocone assimétrico quando foi encaminhado para lensectomia com vitrectomia do olho esquerdo. Até onde sabemos, este é o primeiro relato de um paciente com homocistinúria e ceratocone simultâneos.
Assuntos
Humanos , Masculino , Adulto , Homocistinúria/complicações , Ceratocone/complicações , Cristalino/cirurgia , Vitrectomia , Tomografia Óptica , Homocistinúria/cirurgia , Ceratocone/cirurgiaRESUMO
Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Keratoconus is an ophthalmologic condition characterized by thinning of the corneal stroma, which causes the cornea to assume a conical shape. There is little information in the scientific literature about the association between keratoconus and homocystinuria. We believe that a collagen cross-linking defect may be the key to understand the connection between these two conditions. This case report describes a 38-year-old male patient with a diagnosis of classical homocystinuria since age 13. At the age of 16, he received a diagnosis of asymmetrical keratoconus when referred for lensectomy with vitrectomy of his left eye. To the best of our knowledge, this is the first report of a patient with simultaneous homocystinuria and keratoconus.
Assuntos
Homocistinúria/complicações , Ceratocone/complicações , Cristalino/cirurgia , Adulto , Homocistinúria/cirurgia , Humanos , Ceratocone/cirurgia , Masculino , Tomografia Óptica , VitrectomiaRESUMO
Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.
Assuntos
Estatura , Transtornos do Crescimento/diagnóstico , Acromegalia/diagnóstico , Acromegalia/metabolismo , Acromegalia/terapia , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/diagnóstico , Cromossomos Humanos X/genética , Gerenciamento Clínico , Síndrome do Cromossomo X Frágil/complicações , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/terapia , Lâmina de Crescimento/cirurgia , Homocistinúria/complicações , Homocistinúria/diagnóstico , Homocistinúria/genética , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Obesidade/complicações , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Síndrome de Sotos/complicações , Síndrome de Sotos/diagnóstico , Síndrome de Sotos/genética , Tireotoxicose/complicações , Trissomia/diagnóstico , Trissomia/genéticaRESUMO
This study investigated the effects of chronic homocysteine administration on some parameters of inflammation, such as cytokines (TNF-α, IL-1ß and IL-6), chemokine CCL(2) (MCP-1), nitrite and prostaglandin E(2) levels, as well as on immunocontent of NF-κB/p65 subunit in hippocampus and/or serum of rats. Since acetylcholinesterase has been associated with inflammation, we also evaluated the effect of homocysteine on this enzyme activity in hippocampus of rats. Wistar rats received daily subcutaneous injections of homocysteine (0.3-0.6 µmol/g body weight) or saline (control) from the 6th to the 28th days-of-age. One or 12 h after the last injection, rats were euthanized and hippocampus and serum were used. Results showed that chronic hyperhomocysteinemia significantly increased pro-inflammatory cytokines (TNF-α, IL-1ß and IL-6), chemokine CCL(2) (MCP-1) and prostaglandin E(2) in hippocampus and serum of rats at 1 and 12 h after the last injection of homocysteine. Nitrite levels increased in hippocampus, but decreased in serum at 1 h after chronic hyperhomocysteinemia. Acetylcholinesterase activity and immunocontent of citoplasmic and nuclear NF-κB/p65 subunit were increased in hippocampus of rats subjected to hyperhomocysteinemia at 1 h, but did not alter at 12 h after the last injection of homocysteine. According to our results, chronic hyperhomocysteinemia increases inflammatory parameters, suggesting that this process might be associated, at least in part, with the cerebrovascular and vascular dysfunctions characteristic of some homocystinuric patients.
Assuntos
Biomarcadores/sangue , Hipocampo/metabolismo , Hiper-Homocisteinemia/sangue , Acetilcolinesterase/sangue , Animais , Quimiocina CCL2/sangue , Dinoprostona/sangue , Homocistinúria/complicações , Homocistinúria/fisiopatologia , Interleucina-1beta/sangue , Interleucina-6/sangue , Nitritos/sangue , Ratos , Ratos Wistar , Fator de Transcrição RelA/sangue , Fator de Necrose Tumoral alfa/sangueRESUMO
PURPOSE: To report the surgical technique and outcomes of a no-ring approach to posterior chamber intraocular lens (IOL) implantation in children and young adults with subluxation of the crystalline lens. METHODS: A three-piece 5.5-mm hydrophobic acrylic IOL was implanted in which the optic and one haptic were inside the capsular bag and the other haptic was in the ciliary sulcus. The implantations were done in 13 eyes of 10 patients with lens subluxation. One haptic was fixated in the ciliary sulcus by passing it through an operculum-shaped opening in the capsular bag edge, made between 2 and 3 clock hours, clockwise from the middle point of the subluxated area. RESULTS: The mean age of the 10 patients was 12.61 ± 8.04 years and the mean follow-up was 21.38 ± 11.29 months. The mean preoperative and postoperative best-corrected visual acuity (BCVA) was 1.15 ± 0.58 and 0.37 ± 0.17 logarithm of the minimum angle of resolution, respectively, in 11 measured eyes. The postoperative BCVA was 20/40 or better in 4 eyes (36.36%), between 20/40 and 20/60 in 6 eyes (54.54%), and between 20/80 and 20/100 in 1 eye (9.09%). The BCVA improved in all eyes. Postoperative IOL decentration between 1.0 and 1.5 mm occurred in 3 of 13 eyes (23.08%). CONCLUSION: The results indicate that the no-ring technique allows centration of an IOL implanted into a subluxated capsular bag without using capsule tension rings.
Assuntos
Implante de Lente Intraocular/métodos , Subluxação do Cristalino/cirurgia , Lentes Intraoculares , Resinas Acrílicas , Adolescente , Adulto , Criança , Feminino , Seguimentos , Homocistinúria/complicações , Humanos , Complicações Intraoperatórias , Subluxação do Cristalino/etiologia , Masculino , Síndrome de Marfan/complicações , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual/fisiologia , Adulto JovemRESUMO
A child with cystathionine beta-synthase deficiency developed cerebral edema 4 to 6 weeks after starting betaine therapy. There was no evidence of intracranial thrombosis, but there was widespread edema of the white matter. He recovered fully after emergency decompressive craniotomy and withdrawal of betaine.
Assuntos
Betaína/efeitos adversos , Edema Encefálico/induzido quimicamente , Fármacos Gastrointestinais/efeitos adversos , Homocistinúria/tratamento farmacológico , Betaína/administração & dosagem , Edema Encefálico/cirurgia , Pré-Escolar , Craniotomia , Cistationina beta-Sintase/deficiência , Descompressão Cirúrgica , Fármacos Gastrointestinais/administração & dosagem , Homocistinúria/complicações , Humanos , MasculinoRESUMO
Homocystinuria presenting as cerebral venous thrombosis is not usual. We report on a 13-year-old boy who was admitted to the hospital due to severe headache, nausea, vomiting and fever (38 degrees C). The patient was Marfan like and presented left hemiparesis and meningeal irritation sings. He was mentally retarded, had severe myopia, and had right lens dislocation one month before. Cranial CT scan was suggestive of cerebral venous infarct. MRI and magnetic resonance angiography showed venous infarcts more prominent in the right thalamic projection with hemorrhagic transformation and multiple foci of cortical (occipital and parietal bilaterally) deep parietal and left capsular bleeding, secondary of thrombosis of the transverse and sigmoid venous sinuses. High levels of homocysteine were detected in the blood and urine. Homocystinuria is an autosomal recessive inborn error of methionine metabolism caused by cystathionine-beta-synthase defect in most cases. We discuss the clinical and radiological findings in this patient, analyzing the pathophysiology of the thrombotic events related to homocystinuria.
Assuntos
Homocistinúria/complicações , Embolia e Trombose Intracraniana/etiologia , Trombose Intracraniana/etiologia , Adolescente , Veias Cerebrais , Homocisteína/sangue , Homocistinúria/diagnóstico , Humanos , Embolia e Trombose Intracraniana/diagnóstico , Trombose Intracraniana/diagnóstico , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , MasculinoRESUMO
Homocistinúria apresentando-se como trombose venosa cerebral é incomum. Relatamos o caso de um adolescente com características fenotípicas de homocistinúria que foi admitido por cefaléia intensa, vômitos e sonolência. Investigaçäo diagnóstica com tomografia computadorizada de crânio, ressonância magnética e angiorressonância foi compatível com trombose dos seios transversos e sigmóides. Altos níveis de homocisteína foram detectados no sangue e na urina. Apresentamos os aspectos clínicos e radiológicos deste caso discutindo a controversa fisiopatologia da tendência trombofílica associada a homocistinúria
Assuntos
Humanos , Masculino , Adolescente , Homocistinúria/complicações , Embolia e Trombose Intracraniana/etiologia , Homocisteína/sangue , Homocistinúria/diagnóstico , Embolia e Trombose Intracraniana/diagnóstico , Imageamento por Ressonância MagnéticaAssuntos
Doenças Cardiovasculares/epidemiologia , Endotélio Vascular/fisiopatologia , Homocisteína/sangue , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Deficiência de Vitaminas/complicações , Doenças Cardiovasculares/sangue , Transtornos Cerebrovasculares/sangue , Transtornos Cerebrovasculares/etiologia , Homocisteína/metabolismo , Homocistinúria/sangue , Homocistinúria/complicações , Homozigoto , Humanos , Metionina/metabolismo , Isquemia Miocárdica/epidemiologia , Isquemia Miocárdica/etiologia , Doenças Vasculares Periféricas/sangue , Doenças Vasculares Periféricas/etiologia , Fatores de Risco , Tromboflebite/sangue , Tromboflebite/etiologia , Vitaminas/uso terapêuticoRESUMO
O cristalino ectópico está presente em diversas doenças, que apesar de raras, relacionam-se a complicações severas. A doença mais freqüentemente encontrada no presente estudo foi a Síndrome de Marfan, na qual o deslocamento do cristalino ocorreu para a região superior e temporal. O deslocamento acarreta importante diminuição da acuidade visual e pode gerar ambliopia. Esse estudo apresenta a freqüencia e as causas de cristalino ectópico nos pacientes examinados no Setor de Genética do Departamento de Oftalmologia da Escola Paulista de Medicina no periodo de 1985 a 1993, enfatizando o diagnóstico e reabilitação ocular precoces para a prevenção da ambliopia e estrabismo.