RESUMO
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic disorder characterized by neurodegeneration with brain iron accumulation (NBIA). We report an infant diagnosed with BPAN who was found to have high myopia and astigmatism, strabismus, and bilateral retinal pigmentary changes. While retinal pigmentary changes have been described in other disorders of NBIA, it has been only rarely reported in BPAN.
Assuntos
Proteínas de Transporte/metabolismo , Distúrbios do Metabolismo do Ferro/complicações , Distrofias Neuroaxonais/complicações , Doenças Neurodegenerativas/complicações , Epitélio Pigmentado da Retina/patologia , Transtornos da Visão/etiologia , Astigmatismo/etiologia , Criança , Feminino , Humanos , Miopia Degenerativa/etiologia , Estrabismo/etiologiaRESUMO
A 13-year-old male with suprasellar cystic craniopharyngioma initially controlled with sequential subtotal resections and proton-beam irradiation was later treated with intracystic pegylated interferon α-2b due to progression and a lack of further surgical options. After initial successful control of recurrent cyst enlargement and stabilization of the ophthalmic examination, progressive and irreversible visual field loss ensued. Imaging revealed intracranial leakage from the intracystic catheter, and direct administration of interferon α-2b was discontinued. Given the recent interest in interferon α-2b, oncologists are advised to vigilantly monitor patients for signs of local toxicity that may result from unintended leakage during intracystic delivery.
Assuntos
Antineoplásicos/administração & dosagem , Craniofaringioma/tratamento farmacológico , Interferon-alfa/administração & dosagem , Recidiva Local de Neoplasia/tratamento farmacológico , Neoplasias Hipofisárias/tratamento farmacológico , Polietilenoglicóis/administração & dosagem , Transtornos da Visão/induzido quimicamente , Adolescente , Antineoplásicos/efeitos adversos , Cistos/patologia , Vias de Administração de Medicamentos , Humanos , Interferon alfa-2 , Interferon-alfa/efeitos adversos , Masculino , Polietilenoglicóis/efeitos adversos , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/efeitos adversos , Campos Visuais/efeitos dos fármacosRESUMO
BACKGROUND: Detecting and monitoring optic neuropathy in patients with craniosynostosis is a clinical challenge due to limited cooperation, and subjective measures of visual function. The purpose of this study was to appraise the correlation of peripapillary retinal nerve fiber layer (RNFL) thickness measured by spectral-domain ocular coherence tomography (SD-OCT) with indication of optic neuropathy based on fundus examination. METHODS: The medical records of all patients with craniosynostosis presenting for ophthalmic evaluation during 2013 were retrospectively reviewed. The following data were abstracted from the record: diagnosis, historical evidence of elevated intracranial pressure, current ophthalmic evaluation and visual field results, and current peripapillary RNFL thickness. RESULTS: A total of 54 patients were included (mean age, 10.6 years [range, 2.4-33.8 years]). Thirteen (24%) had evidence of optic neuropathy based on current fundus examination. Of these, 10 (77%) demonstrated either peripapillary RNFL elevation and papilledema or depression with optic atrophy. Sensitivity for detecting optic atrophy was 88%; for papilledema, 60%; and for either form of optic neuropathy, 77%. Specificity was 94%, 90%, and 83%, respectively. Kappa agreement was substantial for optic atrophy (κ = 0.73) and moderate for papilledema (κ = 0.39) and for either form of optic neuropathy (κ = 0.54). Logistic regression indicated that peripapillary RNFL thickness was predictive of optic neuropathy (P < 0.001). Multivariable analysis demonstrated that RNFL thickness measurements were more sensitive at detecting optic neuropathy than visual field testing (likelihood ratio = 10.02; P = 0.002). Sensitivity and specificity of logMAR visual acuity in detecting optic neuropathy were 15% and 95%, respectively. CONCLUSIONS: Peripapillary RNFL thickness measured by SD-OCT provides adjunctive evidence for identifying optic neuropathy in patients with craniosynostosis and appears more sensitive at detecting optic atrophy than papilledema.
Assuntos
Craniossinostoses/diagnóstico , Fibras Nervosas/patologia , Atrofia Óptica/diagnóstico , Papiledema/diagnóstico , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica , Adolescente , Adulto , Criança , Pré-Escolar , Reações Falso-Positivas , Feminino , Humanos , Pressão Intracraniana , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Campos Visuais/fisiologia , Adulto JovemRESUMO
Hypotropia following orbital fracture repair is traditionally attributed to residual tissue entrapment, scarring, direct muscle injury, or damage to the branches of the oculomotor nerve serving the inferior oblique or inferior rectus muscles. We present a case of acquired hypotropia and incyclotropia that occurred following repair of an orbital fracture involving the floor and medial wall. In order to enable adequate visualization and treatment of the combined fractures, access via a transcaruncular approach and disinsertion of the inferior oblique muscle at its origin was necessary. Whereas the possibility of inferior oblique paresis due to repair of an orbital fracture via the transcaruncular approach has received some acknowledgment, there are no prior reports in the ophthalmic literature. Strabismus surgeons should be aware of this possibility when planning surgical correction of hypotropia and incyclotropia in similar cases.
Assuntos
Diplopia/etiologia , Transtornos da Motilidade Ocular/etiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/efeitos adversos , Fraturas Orbitárias/cirurgia , Adulto , Beisebol/lesões , Diplopia/cirurgia , Exoftalmia/etiologia , Exoftalmia/cirurgia , Humanos , Doença Iatrogênica , Masculino , Transtornos da Motilidade Ocular/cirurgia , Músculos Oculomotores/diagnóstico por imagem , Fraturas Orbitárias/diagnóstico por imagem , Fraturas Orbitárias/etiologia , Técnicas de Sutura , Tenotomia , Tomografia Computadorizada por Raios XRESUMO
Background. There is no agreement among researchers on viable controls for acupuncture treatment, and the assessment of the effectiveness of blinding and its interpretation is rare. Purpose. To systematically assess the effectiveness of blinding (EOB) in reported acupuncture trials; to explore results of RCTs using a quantitative measure of EOB. Data Sources. A systematic review of published sham RCTs that assessed blinding. Study Selection. Five hundred and ninety studies were reviewed, and 54 studies (4783 subjects) were included. Data Extraction. The number of patients who guessed their treatment identity was extracted from each study. Variables with possible influence on blinding were identified. Data Synthesis. The blinding index was calculated for each study. Based on blinding indexes, studies were congregated into one of the nine blinding scenarios. Individual study characteristics were explored for potential association with EOB. Limitations. There is a possibility of publication or reporting bias. Conclusions. The most common scenario was that the subjects believed they received verum acupuncture regardless of the actual treatment received, and overall the subject blinding in the acupuncture studies was satisfactory, with 61% of study participants maintaining ideal blinding. Objectively calculated blinding data may offer meaningful and systematic ways to further interpret the findings of RCTs.