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/genéticaRESUMO
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 EspecificidadeRESUMO
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.
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/etiologiaRESUMO
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 , HumanosRESUMO
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 VisualRESUMO
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-NascidoRESUMO
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 XRESUMO
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 JovemRESUMO
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 & administraçãoRESUMO
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 , MasculinoRESUMO
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 imagemRESUMO
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 OligonucleotídeosRESUMO
PURPOSE: To determine the incidence and characteristics of uveitis in a cohort of patients with juvenile idiopathic arthritis (JIA) as well as the nature of treatment and the risk factors for visual loss. PATIENTS AND METHODS: Retrospective review of 52 patients with JIA, screened for uveitis between 1995 and 2005. The first group, presenting with symptoms of arthritis and uveitis, was diagnosed at screening. The second group presented with symptoms of uveitis, without any rheumatological complaints at the time of diagnosis. During follow-up, reactivation of uveitis and complications were registered and treated when indicated. RESULTS: Seventeen patients had symptoms of uveitis at time of presentation or developed uveitis at follow-up. Ten of this patient group had oligo-arthritis, 16 were antinuclear antibody (ANA) positive, 16 were girls. Three patients presented with ophthalmological symptoms without rheumatological complaints. In this group, complications were more pronounced. Treatment in all patients consisted of topical corticosteroids and dilating drops at different intervals. Visual acuity was good in most patients. CONCLUSION: In this retrospective study, the risk of uveitis was higher in ANA- positive girls with oligoarthritis. To reduce severe disease at presentation, earlier diagnosis of JIA, earlier referral for slit lamp examination and universal screening of vision in childhood are necessary.
Assuntos
Artrite Juvenil/epidemiologia , Uveíte/epidemiologia , Uveíte/terapia , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Acuidade VisualRESUMO
In a retrospective study in preterms treated with either cryotherapy (n= 16, 2000-2001) or laser photocoagulation (n= 19, 2002-2005) for threshold retinopathy, a significant decrease in duration of postoperative ventilation, in postoperative administration of analgesics and in time until regain of full enteral feeding was documented in infants who received laser photocoagulation. We therefore conclude that - compared to cryotherapy - laser treatment for threshold retinopathy is associated with a faster clinical postoperative recovery.
Assuntos
Retinopatia da Prematuridade/terapia , Crioterapia , Humanos , Lactente , Recém-Nascido , Fotocoagulação , Estudos RetrospectivosRESUMO
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy. In these families, as well as in a fifth consanguineous family from France, we localised a novel ATD locus (ATD) to chromosome 15q13, with a maximum cumulative two point lod score at D15S1031 (Zmax=3.77 at theta=0.00). Five consanguineous families shared a 1.2 cM region of homozygosity between D15S165 and D15S1010. Investigation of a further four European kindreds, with no known parental consanguinity, showed evidence of marker homozygosity across a similar interval. Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations.
Assuntos
Asfixia/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 15/genética , Osteocondrodisplasias/genética , Tórax/anormalidades , Mapeamento Cromossômico/métodos , Estudos de Coortes , Consanguinidade , Feminino , França , Marcadores Genéticos , Haplótipos/genética , Humanos , Itália , Masculino , Paquistão , LinhagemAssuntos
Analgesia/métodos , Dor/prevenção & controle , Retinopatia da Prematuridade/diagnóstico , Técnicas de Diagnóstico Oftalmológico/efeitos adversos , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Triagem Neonatal/efeitos adversos , Triagem Neonatal/métodos , Dor/etiologia , Manejo da DorRESUMO
Acute retinal necrosis (ARN) is a severe ocular syndrome consisting of a moderate-to-severe anterior uveitis, vasculitis, and vaso-occlusive retinal necrosis. It can occur in healthy individuals at any age, but reports of this condition in children are rare.
Assuntos
Síndrome de Necrose Retiniana Aguda/complicações , Aciclovir/uso terapêutico , Antivirais/uso terapêutico , Criança , Oftalmopatias/etiologia , Feminino , Lateralidade Funcional , Humanos , Hemorragia Retiniana/etiologia , Síndrome de Necrose Retiniana Aguda/diagnóstico , Síndrome de Necrose Retiniana Aguda/tratamento farmacológico , Uveíte Anterior/etiologia , Uveíte Posterior/etiologia , Corpo Vítreo/patologiaRESUMO
We report a case of unilateral Peters' anomaly in a 3-month-old infant with a microdeletion in chromosome 22q11.2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder.