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1.
Medicine (Baltimore) ; 100(10): e24991, 2021 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-33725872

RESUMEN

RATIONALE: Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon syndrome from a Chinese family. PATIENT CONCERNS: We report a case of a 28-year-old male patient presented with the chief complaint of gradually blurring of his eyes over the last 6 months before visiting our clinics. History revealed low visual acuity in his right eye since childhood. Physical examination showed that both the patient and his mother have the appearance of craniofacial dysostosis, mandibular prognathism, ocular proptosis, short superior lip, scoliosis, and thoracic deformity. DIAGNOSIS: Auxiliary examinations lead to the diagnosis of Crouzon syndrome with binocular optic atrophy, myelinated retina nerve fibers, and ametropia in both eyes, and amblyopia in the right eye of the male patient. The molecular genetic analysis confirmed the diagnosis by detecting a heterozygous pathogenic mutation c.1026C > G (C342W) in exon 10 of FGFR2 in both the patient and his mother, but not in any of the unaffected family members. INTERVENTIONS AND OUTCOMES: None. LESSONS: Our study confirms the presence of optic nerve atrophy in patients with Crouzon syndrome carrying FGFR2 C342W mutations and indicates that MRI and funduscopy should be performed to examine the optic nerve changes for patients with Crouzon syndrome.


Asunto(s)
Disostosis Craneofacial/complicaciones , Atrofias Ópticas Hereditarias/genética , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Adulto , China , Disostosis Craneofacial/genética , Análisis Mutacional de ADN , Exones/genética , Femenino , Angiografía con Fluoresceína , Heterocigoto , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación Missense , Atrofias Ópticas Hereditarias/diagnóstico , Nervio Óptico/diagnóstico por imagen , Linaje , Tomografía Computarizada por Rayos X
3.
Endocr Pract ; 27(3): 191-197, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33630733

RESUMEN

OBJECTIVE: To evaluate the performance of T2 mapping in detecting intraorbital optic nerve (ON) changes in patients with thyroid-associated ophthalmopathy (TAO) before the onset of dysthyroid optic neuropathy (DON). METHODS: Thirty-five patients with TAO and without DON (21 active, 14 inactive) and 21 healthy controls (HCs) were enrolled. Magnetic resonance imaging-derived parameters of T2 relaxation time (T2RT) at the intraorbital ON, extraocular muscle (EOM), orbital fat, exophthalmos, summed thickness of EOMs, orbital fat thickness, and clinical variables were compared. Correlations between T2RT at the ON and other variables were assessed. RESULTS: Patients with TAO showed significantly higher T2RTs at the intraorbital ON than HCs (P < .001). Patients with active TAO had significantly higher T2RTs than those with inactive TAO and HCs (P < .001). Differences between patients with inactive TAO and HCs were insignificant (P > .05/3). T2RT at the intraorbital ON was positively correlated with clinical activity score, modified NOSPECS score, T2RT at EOM, exophthalmos, and summed thickness of EOMs in the TAO group (P ≤ .003) and negatively correlated with visual acuity (P = .033) and visual field indices (P = .030) in patients with active TAO. A T2RT cutoff of 82.9 ms for the intraorbital ON distinguished active TAO and healthy eyes optimally (area under the curve, 0.800; sensitivity, 85.7%; specificity, 64.3%). CONCLUSION: T2RT detects disturbance in the intraorbital ON in patients with TAO, especially active TAO, before DON develops. T2 mapping has a potential for noninvasive evaluation of ON changes in patients with TAO.


Asunto(s)
Oftalmopatía de Graves , Enfermedades del Nervio Óptico , Oftalmopatía de Graves/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Músculos Oculomotores/diagnóstico por imagen , Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/diagnóstico por imagen
8.
BMJ Case Rep ; 14(1)2021 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-33472799

RESUMEN

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.


Asunto(s)
Coriorretinopatía Serosa Central/diagnóstico por imagen , Neovascularización Coroidal/diagnóstico por imagen , Coloboma/diagnóstico por imagen , Nervio Óptico/anomalías , Inhibidores de la Angiogénesis , Coriorretinopatía Serosa Central/complicaciones , Coriorretinopatía Serosa Central/tratamiento farmacológico , Coriorretinopatía Serosa Central/patología , Neovascularización Coroidal/complicaciones , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/patología , Coloboma/complicaciones , Coloboma/patología , Femenino , Angiografía con Fluoresceína , Humanos , Inyecciones Intravítreas , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Ranibizumab/uso terapéutico , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Adulto Joven
9.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-33431444

RESUMEN

A 71-year-old man, living with metastatic castrate-resistant prostate cancer to the lymph nodes, spine and skull, presented with acute on chronic left eye vision loss. Examination revealed no-light-perception vision, a relative afferent pupillary defect and optic disc cupping. MRI brain revealed optic canal narrowing from metastatic sphenoid bone expansion and extraosseous tumour compressing the intracanalicular optic nerve. The optic disc cupping and excavation without significant pallor of the remaining neuroretinal rim was likely secondary to chronic compression of the optic nerve. The patient was treated with radiation therapy, but did not regain vision and was referred to palliative care as his condition continued to worsen. As patients live longer with advanced cancer, there is a greater risk of metastasis to atypical areas of the body including the optic nerve. This case demonstrates the unique combination of optic disc cupping from optic canal metastasis due to prostate cancer.


Asunto(s)
Ceguera/etiología , Síndromes de Compresión Nerviosa/etiología , Nervio Óptico/patología , Neoplasias Orbitales/diagnóstico , Neoplasias de la Próstata/patología , Anciano , Ceguera/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Síndromes de Compresión Nerviosa/diagnóstico , Nervio Óptico/diagnóstico por imagen , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/radioterapia , Neoplasias Orbitales/secundario , Neoplasias de la Próstata/terapia , Radiocirugia , Agudeza Visual
10.
J Neurovirol ; 27(1): 171-177, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33460014

RESUMEN

The complete features of the neurological complications of coronavirus disease 2019 (COVID-19) still need to be elucidated, including associated cranial nerve involvement. In the present study we describe cranial nerve lesions seen in magnetic resonance imaging (MRI) of six cases of confirmed COVID-19, involving the olfactory bulb, optic nerve, abducens nerve, and facial nerve. Cranial nerve involvement was associated with COVID-19, but whether by direct viral invasion or autoimmunity needs to be clarified. The development of neurological symptoms after initial respiratory symptoms and the absence of the virus in the cerebrospinal fluid (CSF) suggest the possibility of autoimmunity.


Asunto(s)
Nervio Abducens/diagnóstico por imagen , Enfermedades de los Nervios Craneales/diagnóstico por imagen , Nervio Facial/diagnóstico por imagen , Bulbo Olfatorio/diagnóstico por imagen , Nervio Óptico/diagnóstico por imagen , Nervio Abducens/inmunología , Nervio Abducens/patología , Nervio Abducens/virología , Adulto , Anciano , Autoinmunidad , /patología , Enfermedades de los Nervios Craneales/inmunología , Enfermedades de los Nervios Craneales/patología , Enfermedades de los Nervios Craneales/virología , Nervio Facial/inmunología , Nervio Facial/patología , Nervio Facial/virología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Bulbo Olfatorio/inmunología , Bulbo Olfatorio/patología , Bulbo Olfatorio/virología , Nervio Óptico/inmunología , Nervio Óptico/patología , Nervio Óptico/virología , /patogenicidad
11.
Neurology ; 96(4): e482-e490, 2021 01 26.
Artículo en Inglés | MEDLINE | ID: mdl-33328323

RESUMEN

OBJECTIVE: To assess the added value of the optic nerve region (by using visual evoked potentials [VEPs]) to the current diagnostic criteria. METHODS: From the Barcelona clinically isolated syndrome (CIS) cohort, patients with complete information to assess dissemination in space (DIS), the optic nerve region, and dissemination in time at baseline (n = 388) were selected. Modified DIS (modDIS) criteria were constructed by adding the optic nerve to the current DIS regions. The DIS and modDIS criteria were evaluated with univariable Cox proportional hazard regression analyses with the time to the second attack as the outcome. A subset of these patients who had at least 10 years of follow-up or a second attack occurring within 10 years (n = 151) were selected to assess the diagnostic performance. The analyses were also performed according to CIS topography (optic neuritis vs non-optic neuritis). RESULTS: The addition of the optic nerve as a fifth region improved the diagnostic performance by slightly increasing the accuracy (2017 DIS 75.5%, modDIS 78.1%) and the sensitivity (2017 DIS 79.2%, modDIS 82.3%) without lowering the specificity (2017 DIS 52.4%, modDIS 52.4%). When the analysis was conducted according to CIS topography, the modDIS criteria performed similarly in both optic neuritis and non-optic neuritis CIS. CONCLUSION: The addition of the optic nerve, assessed by VEP, as a fifth region in the current DIS criteria slightly improves the diagnostic performance because it increases sensitivity without losing specificity.


Asunto(s)
Potenciales Evocados Visuales/fisiología , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/fisiopatología , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/fisiopatología , Adulto , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Masculino , Examen Neurológico/métodos , Neuritis Óptica/diagnóstico por imagen , Neuritis Óptica/fisiopatología , Estudios Retrospectivos , Adulto Joven
13.
J Stroke Cerebrovasc Dis ; 30(3): 105500, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33360251

RESUMEN

BACKGROUND: Despite recent progress in the multidisciplinary management of large middle cerebral artery infarcts, the neurological prognosis remains worrying in a non-negligible number of cases. The objective of this study is to analyze the contribution of optic nerve and perioptic sheath measurement on MRI to the acute phase of large middle cerebral artery infarcts. METHODS: A retrospective case-control study between January 2008 and December 2019 in a single academic medical center was performed. Cases and controls were selected by interrogation of International Classification of Diseases (ICD), 10th edition, with ischemic stroke as criterion (code I64). Decompressive hemicraniectomy was a criterion for large middle cerebral artery infarcts (cases). Cases were matched with controls (1:3) based on age (± 5 years), sex, and year of hospitalization (± 2 years) The examinations were performed on 3T MRI (Siemens IRM 3T Magnetom).Optic nerve and perioptic sheath diameter was calculated using electronic calipers, 3 mm behind retina and in a perpendicular vector with reference to the orbit in axial 3D TOF sequence. RESULTS: Of 2612 patients, 22 patients met all the criteria of large middle cerebral artery infarcts and they were paired with 44 controls. Patients were mainly women, mean age of 53.6 years. There is a significant difference in the size of the optic nerve and perioptic sheath diameter measured on MRI at patient's admission (right: 5.13 ± 0.2 mm vs. 4.80 mm ± 0.18, p <0. 0001, left: 5.16 ± 0.17 vs 4.78 ± 0.20, p<0.0001). The AUC of optic nerve and perioptic sheath diameter was 0.93 (95%IC [0.85-1.00]), for a threshold at 5.03 mm, the sensitivity was 0.82 (95%IC [0.6-0.93]), specificity 0.94 (95%IC [0.85-0.98]). The Odds Ratio of large middle cerebral artery infarcts was 46.4 for optic nerve and perioptic sheath diameter the (95%IC [6.15-350.1] p=0.0002). CONCLUSION: Optic nerve and perioptic sheath diameter in the first MRI can predict the risk of developing large middle cerebral artery infarcts requiring a decompressive hemicraniectomy.


Asunto(s)
Ojo/diagnóstico por imagen , Infarto de la Arteria Cerebral Media/diagnóstico por imagen , Imagen por Resonancia Magnética , Nervio Óptico/diagnóstico por imagen , Craniectomía Descompresiva , Femenino , Humanos , Infarto de la Arteria Cerebral Media/cirugía , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos
15.
BMJ Case Rep ; 13(12)2020 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-33370961

RESUMEN

Antitumour necrosis factor alpha agents are important treatments in many inflammatory conditions including rheumatoid arthritis, psoriatic arthritis and the inflammatory bowel diseases. However, there have been case reports of optic neuritis and other demyelinating diseases as complications of these agents. This case report presents a patient with ulcerative colitis on infliximab who presented with sudden onset mono-ocular visual field loss and highlights the diagnosis and management of infliximab-induced optic neuritis.


Asunto(s)
Ceguera/inmunología , Colitis Ulcerosa/tratamiento farmacológico , Fármacos Gastrointestinales/efectos adversos , Infliximab/efectos adversos , Neuritis Óptica/inmunología , Anticuerpos Monoclonales Humanizados/uso terapéutico , Ceguera/diagnóstico , Ceguera/tratamiento farmacológico , Colitis Ulcerosa/inmunología , Sustitución de Medicamentos , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/efectos de los fármacos , Nervio Óptico/inmunología , Neuritis Óptica/complicaciones , Neuritis Óptica/diagnóstico , Neuritis Óptica/tratamiento farmacológico , Prednisolona/uso terapéutico , Tomografía de Coherencia Óptica , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Factor de Necrosis Tumoral alfa/inmunología , Agudeza Visual , Pruebas del Campo Visual , Campos Visuales
16.
BMJ Case Rep ; 13(12)2020 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-33370994

RESUMEN

Traumatic optic neuropathy is sinister sequelae of craniofacial trauma leading to vision loss. The decision between early medical or surgical intervention is usually individualised. Visual evoked potentials may guide the treatment plan. We describe a young male presenting 5 days after a road traffic accident with no perception of light vision in the right eye. He was managed medically with high dose of intravenous steroids. At the 3-month follow-up, he reported a reversal of vision loss with return of visual acuity to 3/60, which improved to 6/36 at 5 months and remained stable at 8 months.


Asunto(s)
Accidentes de Tránsito , Ceguera/tratamiento farmacológico , Metilprednisolona/administración & dosificación , Traumatismos del Nervio Óptico/tratamiento farmacológico , Fracturas Orbitales/complicaciones , Administración Intravenosa , Adolescente , Ceguera/diagnóstico , Ceguera/etiología , Potenciales Evocados Visuales/efectos de los fármacos , Humanos , Masculino , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/efectos de los fármacos , Traumatismos del Nervio Óptico/diagnóstico , Traumatismos del Nervio Óptico/etiología , Órbita/diagnóstico por imagen , Órbita/inervación , Fracturas Orbitales/diagnóstico , Tomografía de Coherencia Óptica , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Agudeza Visual/efectos de los fármacos
17.
Orv Hetil ; 161(52): 2195-2200, 2020 12 27.
Artículo en Húngaro | MEDLINE | ID: mdl-33361505

RESUMEN

Összefoglaló. A septoopticus dysplasia, vagy más néven De Morsier-szindróma egy ritka, az agy középvonali képleteit érinto rendellenesség, mely a septum pellucidum hiányával, hypophysis-diszfunkcióval, látóideg-hypoplasiával és mentális visszamaradottsággal jár együtt. A septum pellucidum hiánya önmagában is elofordulhat izolált formában, de ennek septoopticus dysplasiától való praenatalis elkülönítése jelentos diagnosztikai kihívást jelent. Az izolált septum pellucidum hiány a kevés, rendelkezésünkre álló irodalmi adat alapján ártalmatlan anatómiai variáció. Esetbemutatásunkban a magas mágneses térerovel végzett magzati mágneses rezonancia (MR) képalkotó vizsgálat segítette az izolált septum pellucidum hiány septoopticus dysplasiától való elkülönítését azáltal, hogy lehetové tette a látóidegek és a chiasma pontosabb megítélését, valamint az esetleges egyéb agyi rendellenességek kizárását. A szülés utáni kétéves követési periódus alatt a gyermek normális szomatomentális fejlodést mutatott mindennemu hormonális és vizuális eltérés nélkül. Esetbemutatásunk megerosíti, hogy a septum pellucidum izolált hiánya önmagában lehet egy tünetmentes anatómiai variáció, melynek praenatalis diagnosztikai algoritmusában a vizuális traktus és az agyszerkezet pontosabb megítélése kapcsán a magas mágneses térerovel végzett magzati MR-vizsgálat kulcsfontosságú szerepet játszik, és lehetoséget biztosíthat a septoopticus dysplasia praenatalis kizárására. Orv Hetil. 2020; 161(52): 2195-2200. Summary. Septo-optic dysplasia is characterized as a midline anomaly with agenesis of the septum pellucidum, optic nerve hypoplasia and pituitary dysfunction. The septal agenesis can occur in isolated form, but its prenatal differentiation from septo-optic dysplasia can be challenging. The isolated agenesis of septum pellucidum is an asymptomatic anatomical variation, based on the few literature data available. We report a case where prenatally performed high magnetic field magnetic resonance imaging helped the differential diagnosis by visualizing and assessing thickness of the optic nerves and chiasma. The development of the infant was followed for 24 months and showed no abnormalities. Our case report confirms that isolated agenesis of the septum pellucidum is probably an asymptomatic variation and the visualization of the optic nerves with high magnetic field fetal MRI could be a crucial point of the differential diagnosis and provide possibility to exclude septo-optic dysplasia in utero. Orv Hetil. 2020; 161(52): 2195-2200.


Asunto(s)
Diagnóstico Prenatal/métodos , Tabique Pelúcido/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Nervio Óptico/diagnóstico por imagen , Embarazo , Ultrasonografía
19.
PLoS One ; 15(10): e0240109, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33007029

RESUMEN

PURPOSE: To compare the properties of the lamina cribrosa (LC) and the peripapillary vessel density between branch retinal vein occlusion (BRVO) and normal-tension glaucoma (NTG), using swept-source optical coherence tomography and optical coherence tomography angiography. METHODS: This retrospective study included 21 eyes of 21 patients with BRVO and 43 eyes of 43 patients with NTG who were treated from June 2016 to September 2017. The anterior LC depth (ALCD) and LC thickness (LCT) at the mid-superior, central, and mid-inferior levels; the mean difference in ALCD; and the peripapillary vessel density in the superficial and deep capillary plexuses and the choriocapillaris were compared between groups. RESULTS: ALCD at the mid-superior, central, and mid-inferior levels was significantly greater in the NTG group (P < 0.05), while LCT was comparable between the groups. The mean difference in ALCD was significantly greater in the BRVO group (P = 0.03). The peripapillary vessel density in the superotemporal segment of the superficial capillary plexus was significantly lower in the BRVO group, while the density in all segments of the choriocapillaris was significantly lower in the NTG group (P < 0.05 for all). CONCLUSIONS: Our findings demonstrate that BRVO and NTG have different LC structures and peripapillary vessel densities.


Asunto(s)
Glaucoma de Baja Tensión/patología , Oclusión de la Vena Retiniana/patología , Vasos Retinianos/patología , Anciano , Femenino , Fondo de Ojo , Humanos , Glaucoma de Baja Tensión/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Reproducibilidad de los Resultados , Oclusión de la Vena Retiniana/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica
20.
No Shinkei Geka ; 48(10): 957-961, 2020 Oct.
Artículo en Japonés | MEDLINE | ID: mdl-33071233

RESUMEN

A 77-year-old man presented with a 6-month history of progressive right optic neuropathy secondary to compression by the ipsilateral internal carotid artery(ICA). We performed anterior clinoidectomy and optic canal unroofing. Subsequently, we wrapped the ICA with a polytetrafluoroethylene tape, pulled the vessel laterally, and sutured the tape to the dura mater at the anterior skull base for optimal decompression. An inflammatory mass lesion was observed around the ICA, which led to further compression of the optic nerve. Histopathological examination of the resected specimen showed an inflammatory granuloma. The patient's visual field deficit showed partial improvement postoperatively. Transposition using a tape might be an effective surgical alternative for compressive optic neuropathy.


Asunto(s)
Arteria Carótida Interna , Enfermedades del Nervio Óptico , Anciano , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/cirugía , Descompresión Quirúrgica , Granuloma/complicaciones , Granuloma/diagnóstico por imagen , Granuloma/cirugía , Humanos , Masculino , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/cirugía , Enfermedades del Nervio Óptico/diagnóstico por imagen , Enfermedades del Nervio Óptico/etiología , Enfermedades del Nervio Óptico/cirugía
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