Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 71
Filtrar
1.
J Ophthalmic Inflamm Infect ; 13(1): 5, 2023 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-36811715

RESUMO

INTRODUCTION: Immune checkpoint inhibitors (ICIs) have become an important part of the treatment of multiple cancers, especially for advanced melanoma and non-small cell lung cancer. Some tumors are capable of escaping immunosurveillance by stimulating checkpoints on T-cells. ICIs prevent activation of these checkpoints and thereby stimulate the immune system and indirectly the anti-tumor response. However, the use of ICIs is associated with various adverse events. Ocular side effects are rare but may have a major impact on the quality of life of the patient. METHODS: A comprehensive literature search of the medical databases Web of Science, Embase and PubMed was performed. Articles that provided a comprehensive description of a case report containing 1) cancer patient(s) treated with (a combination of) immune checkpoint inhibitors, and 2) assessed occurrence of ocular adverse events, were included. A total of 290 case reports were included. RESULTS: Melanoma (n = 179; 61.7%) and lung cancer (n = 56; 19.3%) were the most frequent reported malignancies. The primary used ICIs were nivolumab (n = 123; 42.5%) and ipilimumab (n = 116; 40.0%). Uveitis was most the common adverse event (n = 134; 46.2%) and mainly related to melanoma. Neuro-ophthalmic disorders, including myasthenia gravis and cranial nerve disorders, were the second most common adverse events (n = 71; 24.5%), mainly related to lung cancer. Adverse events affecting the orbit and the cornea were reported in 33 (11.4%) and 30 cases (10.3%) respectively. Adverse events concerning the retina were reported in 26 cases (9.0%). CONCLUSION: The aim of this paper is to provide an overview of all reported ocular adverse events related to the use of ICIs. The insights retrieved from this review might contribute to a better understanding of the underlying mechanisms of these ocular adverse events. Particularly, the difference between actual immune-related adverse events and paraneoplastic syndromes might be relevant. These findings might be of great value in establishing guidelines on how to manage ocular adverse events related to ICIs.

2.
Eur J Med Genet ; 65(1): 104378, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34748994

RESUMO

Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it can lead to irreversible visual loss and blindness. The genetics of primary congenital glaucoma are complex and not yet entirely understood. At present multiple disease-causing genes have been identified. CYP1B1 is the most well known gene causing autosomal recessive congenital glaucoma. Other genes have been found to play a role through recessive, dominant or polygenic mechanisms. Here we provide an overview of the known genes and mechanisms described in patients with PCG. Furthermore, we provide a practical counseling and follow-up guideline for relatives of a proband.


Assuntos
Glaucoma/congênito , Glaucoma/genética , Aconselhamento Genético , Predisposição Genética para Doença , Humanos
3.
Eur J Paediatr Neurol ; 21(5): 787-791, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28666648

RESUMO

PURPOSE: To report three patients with an unilateral morning glory disc anomaly in association with an ipsilateral mild thickening of the optic nerve. METHODS: Three children with a morning glory disc anomaly underwent a magnetic resonance imaging (MRI) of the brain. Ophthalmological, genetic and MRI findings at follow-up are reported. A literature search on the association of morning glory anomaly in association with optic nerve glioma is reported.1 RESULTS: Three children with an unilateral morning glory anomaly and ipsilateral poor visual acuity were found to have an ipsilateral mild optic nerve enlargement on brain MRI. At serial MRI scanning, there was no progression of this finding. CONCLUSIONS: The morning glory disc anomaly is a rare congenital malformation of the optic disc. It can be associated with central nervous system abnormalities. The association with an optic nerve glioma has been described once before.1 Our three cases confirm the possible association between a morning glory disc anomaly and an ipsilateral optic nerve enlargement. Serial MRI showed no growth at follow-up. The awareness of this association by the ophthalmologists is important.


Assuntos
Encéfalo/diagnóstico por imagem , Disco Óptico/anormalidades , Nervo Óptico/anormalidades , Transtornos da Visão/etiologia , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Transtornos da Visão/diagnóstico por imagem
4.
Clin Genet ; 91(4): 529-535, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27716896

RESUMO

The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis. Thirty-four patients with NF1 (14 with a truncating mutation, 14 with a non-truncating mutation and 6 with unknown mutation) and 11 patients with LS. All patients underwent an ophthalmological examination. Infrared images were performed. Choroidal nodules were diagnosed in 65% of the NF1 group. About 71% of NF1 patients with a truncating mutation and 50% of patients with a non-truncating mutation were found to have nodules. Choroidal nodules were seen in 18% of the LS patients, never more than one nodule/eye was detected in this group. Choroidal nodules are more abundantly present in NF1 genotypes with truncating mutations. In contrast, the number of choroidal nodules in LS is comparable with their presence in healthy individuals. Especially at an early age, when the clinical picture is incomplete, the detection of choroidal nodules is of diagnostic value, and helps in an appropriate genetic counselling and follow-up. These results support the suggestion to include choroidal nodules to the diagnostic criteria for NF1.


Assuntos
Manchas Café com Leite/diagnóstico , Corioide/fisiopatologia , Diagnóstico Diferencial , Neurofibromatose 1/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal , Manchas Café com Leite/genética , Manchas Café com Leite/fisiopatologia , Aconselhamento Genético , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Neurofibromatose 1/genética , Neurofibromatose 1/fisiopatologia , Acuidade Visual/genética
5.
Ophthalmic Genet ; 38(2): 167-170, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27096414

RESUMO

We present a newborn diagnosed with posterior amorphous corneal dystrophy (PACD). PACD is a rare disorder with partial or complete posterior lamellar corneal opacification. Genetic screening showed a deletion of chromosome 12q21.33-q22 containing the identified four small leucine-rich proteoglycans (SLRP's) associated with this particular dystrophy. Neither parents were carrier of the deletion. To our knowledge, this is the first report of a de novo mutation causing PACD.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 12 , Distrofias Hereditárias da Córnea/genética , Proteoglicanos Pequenos Ricos em Leucina/genética , Adulto , Hibridização Genômica Comparativa , Distrofias Hereditárias da Córnea/diagnóstico , Feminino , Humanos , Lactente , Análise de Sequência com Séries de Oligonucleotídeos
6.
Eur J Paediatr Neurol ; 19(4): 415-22, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25797697

RESUMO

PURPOSE: Efforts are made to unify the protocol concerning the ophthalmological screening, monitoring and treatment of Optic Pathway Gliomas (OPGs) in children with neurofibromatosis type 1 (NF1). The aim of this study is to compare the most recent recommendations published in 2007 with the screening strategies in NF1 centres. The integration of these data resulted into a recommendation for an improved screening strategy. METHODS: A literature search on PubMed between 1984 and 2013 was performed. A questionnaire on the ophthalmological screening in NF1 was sent to centres of expertise in the field of NF1. Literature and questionnaire data were analysed. Also, findings of a round table discussion on the ophthalmological screening of NF1 patients at the European Paediatric Ophthalmological Society (EPOS) meeting in 2013 were summarized. RESULTS: In most centres ophthalmological screening in NF1 patients is well organized, but is performed longer and at more regular intervals than is mentioned in the recommendations. Visual acuity testing, fundoscopy and pupillary reflexes are carried out unanimously. CONCLUSIONS: There is no uniformity of the ophthalmological screening in NF1 patients. The present recommendation advises to screen annually until the age of 8. Because OPGs are likely to develop before the age of 6 and children do not usually complain of visual problems, OPGs can be missed or detection can be delayed if screening is only yearly performed at this young age. Based on these arguments, about half of our responders screen more frequently and until a later age. Therefore, we suggest performing a six monthly screening until the age of 6 and a yearly examination from 6 years until adulthood. This examination should include visual acuity assessment, pupillary reflexes and a fundoscopy.


Assuntos
Algoritmos , Detecção Precoce de Câncer/métodos , Neurofibromatose 1/complicações , Neurologia/normas , Glioma do Nervo Óptico/diagnóstico , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Neurofibromatose 1/diagnóstico , Neurologia/métodos , Glioma do Nervo Óptico/etiologia , Guias de Prática Clínica como Assunto , Inquéritos e Questionários , Acuidade Visual
8.
Doc Ophthalmol ; 127(3): 177-90, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23884797

RESUMO

OBJECTIVE: The aim of this study is to investigate the role of pattern reversal visual evoked potentials (pVEPs) in the screening and monitoring of optic pathway gliomas (OPGs) in children with and without neurofibromatosis type 1. METHODS: A review of the English literature published between 1980 and 2012 was performed, with comparison of results of retro- and prospective studies. RESULTS: Pattern reversal VEPs have a high sensitivity (85.7-100 %) for the diagnosis of OPGs, moreover they are safe and cost-effective. Conversely, they have a low specificity (43-83 %) and are not widely available. Besides, pattern reversal VEP results can be unreliable in young children, because of the need for a good cooperation. The studies that were analyzed have drawbacks, including the small sample size, the retrospective design, the differences in gold standard for diagnosis, the different interpretation of small changes in VEP results and the lack of control groups. CONCLUSION: There is still debate about the gold standard for the screening and follow-up of OPGs. The added value of pVEPs to the ophthalmic examination is controversial. Randomized controlled trials or prospective multicentre studies are necessary to assess with sufficient accuracy the sensitivity and specificity of pattern reversal VEPs in the screening for OPGs and its follow-up.


Assuntos
Potenciais Evocados Visuais/fisiologia , Glioma do Nervo Óptico/diagnóstico , Criança , Pré-Escolar , Humanos , Neurofibromatose 1/complicações , Glioma do Nervo Óptico/etiologia , Sensibilidade e Especificidade
9.
Bull Soc Belge Ophtalmol ; (320): 5-10, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22978178

RESUMO

We report a 4-year-old girl presenting with sudden severe bilateral visual loss. Ophthalmological examination revealed optic disc pallor. Further neurological examination was normal. Brain magnetic resonance imaging (MRI) suggested chiasmal optic neuritis, and further etiological investigations were negative. We review the literature on the incidence and underlying etiology of chiasmal optic neuritis in childhood.


Assuntos
Quiasma Óptico/patologia , Neurite Óptica/diagnóstico , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Neurite Óptica/complicações , Transtornos da Visão/etiologia
11.
Bull Soc Belge Ophtalmol ; (318): 7-10, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22003758

RESUMO

We report the dramatic ophthalmological findings in a newborn baby consisting of a perforated right eye and a protruding buphthalmic opacified left eye. The diagnosis of congenital corneal staphyloma was suspected and was confirmed on histopathological examination of the right eye remnants, and of the left cornea after a corneoscleral keratoplasty was performed. This case report describes one clinical spectrum of Peter's anomaly.


Assuntos
Doenças da Córnea/congênito , Doenças da Córnea/patologia , Córnea/anormalidades , Doenças da Córnea/cirurgia , Transplante de Córnea , Feminino , Humanos , Recém-Nascido
12.
Neuropediatrics ; 42(4): 138-47, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21913154

RESUMO

The objective of the study was to investigate the screening utility of a questionnaire for cerebral visual impairment (CVI) by correlating the questionnaire with diagnostic tools such as the L94, the Test of Visual Perceptual Skills - Revised and the Visual Perception subtask of the Beery test of VisuoMotor Integration.The questionnaire consisted of 46 items, exploring different characteristics of CVI. We consecutively recruited 91 children. Parents filled out the questionnaire after which all children were seen for a diagnostic evaluation of CVI.There were 58 boys. Subjects' mean age was 6.10 years. A median of 12 items was ticked in the 45 children with CVI and 7 in the children without impairment. The domain 'visual attitude' scored positive most frequently. A logistic regression model using individual items, yielded Receiver Operating Curves for the questionnaire with good areas under the curve of 0.81 against the L94, 0.78 against the TVPS-R and 0.84 against the VP subtask. The sum score of the 6 domains was found to be an easy-obtainable score with a good sensitivity and specificity profile.This CVI questionnaire is a viable tool that has the potential of being implemented as part of a routine screening procedure for CVI.


Assuntos
Encefalopatias/complicações , Córtex Cerebral/patologia , Inquéritos e Questionários , Transtornos da Visão/complicações , Transtornos da Visão/diagnóstico , Criança , Transtornos Cognitivos/complicações , Transtornos Cognitivos/diagnóstico , Humanos , Modelos Logísticos , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico , Testes Neuropsicológicos , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Percepção Visual
15.
Bull Soc Belge Ophtalmol ; (316): 21-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21305809

RESUMO

We report a case of unilateral acute acquired intermittent Brown's syndrome in a 5-year-old boy, that resolved spontaneously but recurred at regular intervals afterwards. A specific cause could not be found. We discuss the possible pathophysiological mechanisms of acquired Brown's syndrome in children.


Assuntos
Transtornos da Motilidade Ocular/diagnóstico , Pré-Escolar , Humanos , Masculino , Órbita/diagnóstico por imagem , Exame Físico , Tomografia Computadorizada por Raios X
16.
Dev Med Child Neurol ; 51(3): 209-17, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19260932

RESUMO

In this article we describe visual perceptual abilities of a clinical population, referred for visual problems to our multidisciplinary team and assessed with the five computer tasks from the L94 visual perceptual battery. Clinical and neuroimaging findings were correlated with the findings on this task battery. Seventy children (35 males, 35 females) constituted our cohort. Age ranged from 4 to 20 years (mean 7y [SD 3y]). Forty children were born before 37 weeks gestational age. Thirty-six children had cerebral palsy (CP), of whom 24 had spastic diplegia, five had spastic hemiplegia, and four had spastic quadriplegia. Three children had ataxic CP. Perceptual visual impairment (PVI) was established in comparison to the performance age obtained on non-verbal intelligence subtests, instead of chronological age. Our results suggest that children with a history of preterm birth and a clinical CP picture are most at risk for a specific PVI. Correlations among other clinical variables did not define a clinical subgroup more at risk. Children with periventricular leucomalacia were almost equally represented in both PVI and non-PVI groups. Normal magnetic resonance imaging did not exclude the presence of PVI. In these children, however, we found another impairment profile, more in favour of dorsal stream impairment.


Assuntos
Encefalopatias/fisiopatologia , Córtex Cerebral/fisiopatologia , Transtornos da Visão/fisiopatologia , Percepção Visual/fisiologia , Adolescente , Encefalopatias/classificação , Encefalopatias/complicações , Córtex Cerebral/patologia , Criança , Pré-Escolar , Estudos de Coortes , Diagnóstico por Computador , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos , Índice de Gravidade de Doença , Estatística como Assunto , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Escalas de Wechsler , Adulto Jovem
17.
Bull Soc Belge Ophtalmol ; (313): 49-63, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20108573

RESUMO

Amblyopia results from degradation of the retinal image during a sensitive period of visual development. Amblyopia is the most common cause of visual loss in children. Because of the failure in detection and in treatment, amblyopia is still an important cause of visual loss in adults. Results from recent randomised trials in amblyopia should change our approach to screening and treatment. Based on the current evidence, if a single screening session is used, screening at school entry could be the most efficient screening moment. Between researchers, however, there still exists a lot of controversy on the benefit of visual screening.


Assuntos
Ambliopia/prevenção & controle , Seleção Visual , Adulto , Ambliopia/diagnóstico , Pré-Escolar , Humanos , Avaliação de Programas e Projetos de Saúde , Serviços de Saúde Escolar , Estrabismo/diagnóstico , Estrabismo/prevenção & controle , Seleção Visual/organização & administração
18.
Bull Soc Belge Ophtalmol ; (309-310): 11-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19198546

RESUMO

Posterior microphthalmos is a rare congenital bilateral eye disorder, of which the posterior segment is abnormally small. Additional features include high hypermetropia and a tendency to uveal effusion. We report two siblings who present with high hypermetropia and other features of posterior microphthalmos. Fundus examination revealed the typical crowding of the optic disc and retinal folds. We discuss clinical characteristics, pathogenesis and complications of this disorder.


Assuntos
Anormalidades do Olho/complicações , Anormalidades do Olho/diagnóstico , Hiperopia/etiologia , Transtornos da Visão/etiologia , Criança , Consanguinidade , Feminino , Angiofluoresceinografia , Humanos , Masculino
19.
Eur Radiol ; 17(12): 3255-7, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18004608

RESUMO

We report a patient presenting with bilateral lacrimal gland involvement and perioptic nerve sheath lesions due to Langerhans cell histiocytosis (LCH) invasion. LCH is a rare multisystemic disease characterized by a clonal proliferation of Langerhans cells. All organs may be involved with a clinical spectrum ranging from a solitary bone lesion to a severe life-threatening multisystem disease. Osteolytic orbital bone lesions with extension into the adjacent orbital soft tissues have been described. To our knowledge, lacrimal gland involvement has probably been described only once before. Perioptic nerve lesions are also very rare, having been described only three times before.


Assuntos
Histiocitose de Células de Langerhans/patologia , Aparelho Lacrimal/patologia , Nervo Óptico/patologia , Pré-Escolar , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...