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BACKGROUND: Giant cell arteritis (GCA) is an important diagnostic consideration in elderly patients with vision changes. Superficial temporal artery biopsy (TAB) has long been considered the gold standard diagnostic approach for GCA, but MRI has gained interest as an alternative diagnostic modality. Although most of the literature has focused on imaging abnormalities of branches of the external carotid artery, there have been a few reports of GCA-related inflammatory involvement of the orbit and internal carotid arteries (ICAs) on MRI. METHODS: This was a retrospective cross-sectional study of patients undergoing TAB at a single tertiary referral center over a 5-year period. Patients who had undergone contrast-enhanced MRI of the brain and orbits within 1 month of biopsy were included. Fifty-four TAB-positive and 78 TAB-negative patients were reviewed, with the MRI studies of 7 TAB-positive and 6 TAB-negative patients deemed adequate for interpretation. MRI studies were reviewed by 2 masked neuroradiologists, and the findings were correlated with biopsy results and clinical findings. RESULTS: Intracranial ICA vessel wall enhancement was identified in 6 of 7 TAB-positive patients (sensitivity 86%), compared with 2 of 6 TAB-negative patients (specificity 67%). Optic nerve sheath enhancement was identified in 5 of 7 TAB-positive patients (sensitivity 71%) and in 2 of 6 TAB-negative patients (specificity 67%), bilateral in all such cases. The combination of both abnormal imaging findings was observed in 5 of 7 TAB-positive patients (sensitivity 71%) and in none of the 6 TAB-negative patients (specificity 100%). CONCLUSIONS: Intracranial ICA and optic nerve sheath enhancement were observed in a majority of patients with TAB-proven GCA, and the combination of these findings was highly specific for GCA. Identification of these abnormalities on MRI should raise concern for GCA and prompt a thorough review of systems, laboratory testing, and consideration of TAB in patients with ocular complaints potentially consistent with ischemia.
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Artéria Carótida Interna/diagnóstico por imagem , Arterite de Células Gigantes/diagnóstico , Doenças do Nervo Óptico/diagnóstico por imagem , Artérias Temporais/patologia , Idoso , Idoso de 80 Anos ou mais , Biópsia , Estudos Transversais , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Conventional treatment options for trochlear pain arising from trochleitis or primary trochlear headache include oral anti-inflammatory medications and/or local injection of corticosteroids and local anesthetic. Trochleaectomy is an additional option to consider for monocular patients with intractable trochlear pain. METHODS: We report 3 patients undergoing trochleaectomy for refractory trochlear pain syndromes. RESULTS: Trochleaectomy resulted in resolution of their periocular discomfort. CONCLUSIONS: Trochleaectomy is an effective procedure to treat trochlear pain syndrome in functionally monocular patients.
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Dor Ocular/cirurgia , Procedimentos Neurocirúrgicos/métodos , Doenças do Nervo Troclear/complicações , Nervo Troclear/cirurgia , Visão Monocular/fisiologia , Adulto , Idoso , Dor Ocular/etiologia , Dor Ocular/fisiopatologia , Feminino , Humanos , Masculino , Doenças do Nervo Troclear/fisiopatologia , Doenças do Nervo Troclear/cirurgiaRESUMO
Purpose: To describe the demographic and clinical characteristics of patients with thyroid eye disease (TED) who present with predominate superior rectus/levator complex involvement.Methods: A multi-institutional retrospective review was performed to identify patients with TED who presented with superior isolated or predominate rectus/levator involvement. Baseline and subsequent visits were reviewed to characterize the clinical course.Results: Nineteen patients were identified. All patients had imaging demonstrating an enlarged levator/superior rectus complex. At presentation, the mean clinical activity score (CAS) was 2.1 (range: 0-5). Nineteen (100%) patients had proptosis on the affected side. Lid abnormalities, including upper/lower eyelid retraction and ptosis were higher on affected side compared to the unaffected side. Eleven (58%) patients had vertical misalignment. Mean thyroid stimulating immunoglobulin (TSI) was 3.7 (range: 1-7.1). Mean follow-up time was 18 months (range: 0-60 months). At last follow-up, the mean CAS was 1.3 (range 0-5). Ten (53%) patients had proptosis. Eleven (58%) patients had vertical misalignment. Repeat imaging in eight patients showed interval enlargement of other extraocular muscles.Conclusions: The presentation of TED with superior rectus/levator complex enlargement may be under-appreciated. Orbital imaging, as well as laboratory evaluation, may help support a diagnosis of TED. In the setting of abnormal TSI and/or thyrotropin receptor antibody, presence of upper eyelid retraction, and an otherwise unremarkable laboratory and systemic evaluation, a presumptive diagnosis of TED may be made, and the patient can be followed closely, as he/she is likely to develop involvement of other extraocular muscles, consistent with a more typical presentation of TED.
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Blefaroptose/cirurgia , Oftalmopatia de Graves/diagnóstico , Monitorização Fisiológica , Músculos Oculomotores/fisiopatologia , Adolescente , Adulto , Idoso , Biópsia por Agulha , Blefaroptose/etiologia , Blefaroptose/fisiopatologia , Estudos de Coortes , Feminino , Seguimentos , Oftalmopatia de Graves/patologia , Oftalmopatia de Graves/terapia , Hospitais Universitários , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Testes de Função Tireóidea , Fatores de Tempo , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
Removing fish hooks is a common procedure performed by many emergency department providers. There are several techniques that are commonly employed to aid in successful removal. However, when a fish hook becomes embedded within the orbit, there are limited options as to avoid damaging vital surrounding structures. The authors report the removal of a fish hook within the anterior orbit using the string technique in a 25-year-old patient. The procedure was performed under general anesthesia with the aid of size 5 polyglactin suture wrapped around the hook. The procedure itself took less than 10 seconds and was successful in swiftly and safely removing the hook without damaging surrounding orbital structures. The patient recovered well without any permanent sequelae.
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Corpos Estranhos no Olho/cirurgia , Ferimentos Oculares Penetrantes/cirurgia , Órbita/cirurgia , Suturas , Adulto , Humanos , Masculino , Microcirurgia/métodosAssuntos
Oftalmopatia de Graves , Anti-Inflamatórios/uso terapêutico , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/epidemiologia , Oftalmopatia de Graves/etiologia , Oftalmopatia de Graves/terapia , Humanos , Imunossupressores/uso terapêutico , Procedimentos Cirúrgicos Oftalmológicos , Fatores de RiscoRESUMO
PURPOSE: To evaluate low- vs high-dose plaque brachytherapy for juxtapapillary choroidal melanoma. DESIGN: Retrospective interventional case series. METHODS: Setting: Single institution. STUDY POPULATION: Forty-seven patients with juxtapapillary choroidal melanoma. INTERVENTION: Iodine-125 plaque brachytherapy. Eyes were divided into apex low-dose (LD) and high-dose (HD) groups (≤ or > median apex dose 84.35 Gy). Main outcome measures were time to distant failure, local failure, death, enucleation, radiation retinopathy, optic neuropathy, and best-corrected visual acuity (BCVA). RESULTS: Freedom from distant failure rates were 96% and 95% in apex LD and HD groups at 5 years and 77% and 95% at 10 years, respectively (P = .84). Freedom from local failure rates were 90% in the apex LD group vs 89% in the HD group at 5 and 10 years (P = .96). Apex LD and HD groups did not differ for time to death or enucleation. Five- and 10-year freedom from radiation retinopathy and optic neuropathy rates were higher in the apex LD than HD group. Loss of ≥3 BCVA lines, final BCVA 20/40 or better, and final BCVA 20/200 or worse were more favorable in the 5 mm LD compared to HD group. Visual acuity outcomes did not differ between apex LD and HD groups. CONCLUSIONS: Low-dose iodine-125 plaque brachytherapy (67.5-81 Gy at tumor apex) provides safe and effective tumor control for juxtapapillary choroidal melanoma and may be associated with reduced radiation toxicity. Larger trials are needed to determine the optimal therapeutic dose for juxtapapillary choroidal melanoma.
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Neoplasias da Coroide/radioterapia , Previsões , Radioisótopos do Iodo/uso terapêutico , Melanoma/radioterapia , Lesões por Radiação/prevenção & controle , Acuidade Visual , Idoso , Biópsia , Braquiterapia , Neoplasias da Coroide/diagnóstico , Feminino , Seguimentos , Humanos , Incidência , Masculino , Melanoma/diagnóstico , Pessoa de Meia-Idade , North Carolina/epidemiologia , Disco Óptico/patologia , Disco Óptico/efeitos da radiação , Lesões por Radiação/epidemiologia , Dosagem Radioterapêutica , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Resultado do Tratamento , UltrassonografiaRESUMO
We describe a case of breast cancer metastatic to the superior oblique, in a male. The patient was a 66-year-old Caucasian male with a history of stage IIIB rectal adenocarcinoma and stage IIA left breast carcinoma diagnosed 12 years and 5 years prior, respectively, who presented with headaches and intermittent diplopia. He underwent left total mastectomy with sentinel lymph node biopsy 6 years prior, which showed ER/PR+, HER2/neu-, moderately-differentiated, infiltrating ductal carcinoma with 3/14 positive nodes. He completed adjuvant doxorubicin/cyclophosphamide and oral tamoxifen, and prior routine surveillance imaging had found no evidence of recurrent disease. MRI of the orbit revealed a 0.7 × 1.4 × 1.9 cm mass in the superomedial right orbit in the region of the superior oblique. Transcaruncular orbitotomy with biopsy of the superior oblique revealed metastatic breast carcinoma. Unfortunately, he developed new metastases. Post-operatively, he continues to have good vision with minimal diplopia.
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A 10-year-old male was referred for evaluation of a right orbital mass present for 3 weeks with associated tenderness to palpation. Magnetic resonance imaging (MRI) and computed tomography imaging (CT) revealed a solid mass centered in the frontal bone with extension into the orbit. Surgical excision and histologic analysis of the lesion was consistent with a diagnosis of a Giant Cell Tumor (GCT) of the frontal bone. The patient tolerated the procedure without complication and is doing well upon follow-up.
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BACKGROUND: Embolia cutis medicamentosa (ECM) is a rare phenomenon attributed to intra-arterial drug injection. Glabellar filler injections can result in potentially devastating visual loss from inadvertent retrograde arteriolar embolization due to the extensive vasculature within the upper face. The minimum amount of filler necessary to potentiate this complication has not yet been reported. OBJECTIVES: We aim to determine the volume of filler necessary to occupy the supratrochlear artery from the glabella to the bifurcation of the ophthalmic and central retinal arteries. We specifically examine the volume of the supratrochlear artery from the glabella to orbital apex. METHODS: The study was approved by Duke University Institutional Review Board and involved surgical dissection of six fresh tissue cadaver heads (12 hemifaces). The arterial system in each cadaver head was injected with latex for visualization. The supratrochlear arteries were isolated anteriorly from the glabella to the orbital apex posteriorly. Intra-orbital vessel radius and length were measured. The vessel volume was calculated by water displacement of the intra-arterial latex. RESULTS: The vessel volumes ranged from 0.04 to 0.12 mL. The average vessel volume was calculated as 0.085 mL, the average length as 51.75 mm, and the average radius as 0.72 mm. CONCLUSIONS: Vascular occlusion from filler injections can lead to devastating visual consequences due to inadvertent retrograde intra-arterial embolization. Our findings indicate that the average entire volume of the supratrochlear artery from the glabella to the orbital apex is 0.085 mL. Injectors should be aware that a bolus of this critical volume may lead to a significant adverse outcome.
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Arteriopatias Oclusivas/prevenção & controle , Cegueira/prevenção & controle , Técnicas Cosméticas , Preenchedores Dérmicos/administração & dosagem , Face/irrigação sanguínea , Síndrome de Nicolau/prevenção & controle , Artéria Oftálmica/anatomia & histologia , Artéria Retiniana/anatomia & histologia , Arteriopatias Oclusivas/etiologia , Cegueira/etiologia , Cadáver , Técnicas Cosméticas/efeitos adversos , Preenchedores Dérmicos/efeitos adversos , Dissecação , Feminino , Humanos , Injeções , Masculino , Síndrome de Nicolau/etiologia , North Carolina , Fatores de Risco , Resultado do TratamentoRESUMO
A 40-year-old white woman presented to her general ophthalmologist for swelling of the left upper eyelid that began approximately 6 months before. CT scan of the orbits with and without contrast demonstrated homogenous enhancement of the left lacrimal gland. Examination was notable for left hypoglobus and proptosis. The patient underwent left lateral orbitotomy with biopsy of the mass and frozen section analysis showed lymphoid infiltrates. Subsequent histopathologic diagnosis was consistent with nodular lymphocyte predominant Hodgkin lymphoma, a rare subtype of Hodgkin lymphoma that has only once been previously reported in the orbit. The authors review the case and the relevant literature.
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Doença de Hodgkin/patologia , Neoplasias Orbitárias/patologia , Adulto , Diagnóstico Diferencial , Exoftalmia/diagnóstico , Feminino , Humanos , Aparelho Lacrimal/patologia , Tomografia Computadorizada por Raios XRESUMO
Nonglaucomatous cupping is commonly encountered in neuro-ophthalmic practice. However, the progression of clinical and imaging findings over time has not been well described. We present serial fundus photographs and spectral domain optical coherence tomography from a pediatric patient with neuromyelitis optic spectrum disorder, which demonstrated progression of both cupping and optic atrophy in the setting of normal intraocular pressure.
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Atrofia Óptica/diagnóstico , Disco Óptico/patologia , Tomografia de Coerência Óptica/métodos , Criança , Feminino , Humanos , Pressão Intraocular , Acuidade VisualAssuntos
Carcinoma Adenoide Cístico/diagnóstico , Exoftalmia/diagnóstico , Neoplasias Oculares/diagnóstico , Dor Ocular/diagnóstico , Doenças do Aparelho Lacrimal/diagnóstico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Adenoide Cístico/terapia , Terapia Combinada , Neoplasias Oculares/terapia , Humanos , Doenças do Aparelho Lacrimal/terapia , Imageamento por Ressonância Magnética , Masculino , Radioterapia Adjuvante , Adulto JovemRESUMO
We describe 2 unique cases of visual symptoms occurring during mastication in patients with lateral orbital wall defects. A 57-year-old man reported intermittent double vision and oscillopsia after a right fronto-temporal-orbito-zygomatic craniotomy with osteotomy of the lesser wing of the sphenoid for a complex invasive pituitary adenoma. Proptosis of the right globe was present only during mastication. Computed tomography (CT) revealed a bony defect in the right lateral orbital wall. A 48-year-old man presented with transient diplopia and scotoma in the right eye elicited by chewing. CT and magnetic resonance imaging demonstrated a bilobed lesion connecting the temporal fossa to the orbit through a defect in the right lateral orbital wall. The regional neuroanatomy and pathophysiology as pertaining to these cases are discussed.
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Craniotomia/efeitos adversos , Diplopia/etiologia , Exoftalmia/etiologia , Mastigação , Complicações Pós-Operatórias , Craniotomia/métodos , Diplopia/diagnóstico , Exoftalmia/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Órbita , Osso Esfenoide/cirurgia , Tomografia Computadorizada por Raios XAssuntos
Anormalidades do Olho/diagnóstico , Disco Óptico/anormalidades , Retina/anormalidades , Adulto , Membrana Epirretiniana/patologia , Feminino , Humanos , Fibras Nervosas/patologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica , Transtornos da Visão/diagnóstico , Acuidade VisualRESUMO
Optical coherence tomography (OCT) has become an increasingly popular tool in various disciplines of medicine, particularly ophthalmology and neurology. It is an imaging technology that has revolutionized the practice of ophthalmology by providing anatomic detail of pathologic changes in the retina and optic nerve. OCT is routinely used as an ancillary test that can aid in the diagnosis and monitoring of neuro-ophthalmic diseases such as papilledema, optic neuritis, and neuroretinitis. OCT measurements have also been shown to predict visual prognosis in compressive optic neuropathies. Changes in OCT measurements have been used to study the course of particular neurologic diseases such as multiple sclerosis, suggesting that the data obtained may be useful as a biomarker in diagnosing and treating neurodegenerative disease. We present an up-to-date review of the OCT findings in several diseases of neurologic interest and provide clinical examples pertinent to the general neurologist.
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PURPOSE: To investigate, in the treatment of uveal melanomas, how tumor control, radiation toxicity, and visual outcomes are affected by the radiation dose at the tumor apex. METHODS AND MATERIALS: A retrospective review was performed to evaluate patients treated for uveal melanoma with (125)I plaques between 1988 and 2010. Radiation dose is reported as dose to tumor apex and dose to 5 mm. Primary endpoints included time to local failure, distant failure, and death. Secondary endpoints included eye preservation, visual acuity, and radiation-related complications. Univariate and multivariate analyses were performed to determine associations between radiation dose and the endpoint variables. RESULTS: One hundred ninety patients with sufficient data to evaluate the endpoints were included. The 5-year local control rate was 91%. The 5-year distant metastases rate was 10%. The 5-year overall survival rate was 84%. There were no differences in outcome (local control, distant metastases, overall survival) when dose was stratified by apex dose quartile (<69 Gy, 69-81 Gy, 81-89 Gy, >89 Gy). However, increasing apex dose and dose to 5-mm depth were correlated with greater visual acuity loss (P=.02, P=.0006), worse final visual acuity (P=.02, P<.0001), and radiation complications (P<.0001, P=.0009). In addition, enucleation rates were worse with increasing quartiles of dose to 5 mm (P=.0001). CONCLUSIONS: Doses at least as low as 69 Gy prescribed to the tumor apex achieve rates of local control, distant metastasis-free survival, and overall survival that are similar to radiation doses of 85 Gy to the tumor apex, but with improved visual outcomes.
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Braquiterapia/métodos , Corpo Ciliar , Radioisótopos do Iodo/uso terapêutico , Melanoma/radioterapia , Neoplasias Uveais/radioterapia , Acuidade Visual/efeitos da radiação , Adulto , Idoso , Análise de Variância , Braquiterapia/efeitos adversos , Braquiterapia/mortalidade , Neoplasias da Coroide/mortalidade , Neoplasias da Coroide/patologia , Neoplasias da Coroide/radioterapia , Neoplasias da Coroide/cirurgia , Intervalo Livre de Doença , Enucleação Ocular/estatística & dados numéricos , Feminino , Humanos , Modelos Lineares , Masculino , Melanoma/mortalidade , Melanoma/patologia , Melanoma/secundário , Melanoma/cirurgia , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Dosagem Radioterapêutica , Estudos Retrospectivos , Esclera , Falha de Tratamento , Carga Tumoral , Neoplasias Uveais/mortalidade , Neoplasias Uveais/patologia , Neoplasias Uveais/secundário , Neoplasias Uveais/cirurgiaRESUMO
OBJECTIVE: Perivascular mural cells of the choroid have been implicated in physiological functioning as well as in retinal disease pathogenesis. However details regarding their form and function are not well understood. We aim to characterize choroidal mural cells in the adult mouse choroid in terms of their distribution and morphology, and correlate these to their contractile behavior. METHODS: Sclerochoroidal flat-mounted explants were prepared from albino transgenic mice in which the α-smooth muscle actin (α-SMA) promoter drives the expression of green fluorescent protein (GFP). α-SMA-expressing smooth muscle cells and pericytes in the living choroid were thereby rendered fluorescent and imaged with confocal microscopy and live-cell imaging in situ. RESULTS: Choroidal perivascular mural cells demonstrate significant diversity in terms of their distribution and morphology at different levels of the vasculature. They range from densely-packed circumferentially-oriented cells that provide complete vascular coverage in primary arteries to widely-spaced stellate-shaped cells that are distributed sparsely over terminal arterioles. Mural cells at each level are immunopositive for contractile proteins α-SMA and desmin and demonstrate vasoconstrictory contractile movements in response to endothelin-1 and the calcium ionophore, A23187, and vasodilation in response to the calcium chelator, BAPTA. The prominence of vasoregulatory contractile responses varies with mural cell morphology and density, and is greater in vessels with dense coverage of mural cells with circumferential cellular morphologies. In the choriocapillaris, pericytes demonstrate a sparse, horizontal distribution and are selectively distributed only to the scleral surface of the choriocapillaris. CONCLUSIONS: Diversity and regional specialization of perivascular mural cells may subserve varying requirements for vasoregulation in the choroid. The model of the α-SMA-GFP transgenic albino mouse provides a useful and intact system for the morphological and functional study of choroidal mural cells.
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Forma Celular/fisiologia , Corioide/efeitos dos fármacos , Pericitos/ultraestrutura , Esclera/efeitos dos fármacos , Vasoconstrição/efeitos dos fármacos , Vasodilatação/efeitos dos fármacos , Actinas/genética , Actinas/metabolismo , Animais , Calcimicina/farmacologia , Ionóforos de Cálcio/farmacologia , Capilares/efeitos dos fármacos , Quelantes/farmacologia , Corioide/irrigação sanguínea , Corioide/ultraestrutura , Desmina/genética , Desmina/metabolismo , Ácido Egtázico/análogos & derivados , Ácido Egtázico/farmacologia , Endotelina-1/farmacologia , Genes Reporter , Proteínas de Fluorescência Verde , Camundongos , Camundongos Transgênicos , Microscopia de Fluorescência , Contração Muscular/efeitos dos fármacos , Pericitos/efeitos dos fármacos , Esclera/irrigação sanguínea , Esclera/ultraestrutura , Técnicas de Cultura de TecidosRESUMO
PURPOSE: Microglia represent the primary resident immune cells in the CNS, and have been implicated in the pathology of neurodegenerative diseases. Under basal or "resting" conditions, microglia possess ramified morphologies and exhibit dynamic surveying movements in their processes. Despite the prominence of this phenomenon, the function and regulation of microglial morphology and dynamic behavior are incompletely understood. We investigate here whether and how neurotransmission regulates "resting" microglial morphology and behavior. METHODS: We employed an ex vivo mouse retinal explant system in which endogenous neurotransmission and dynamic microglial behavior are present. We utilized live-cell time-lapse confocal imaging to study the morphology and behavior of GFP-labeled retinal microglia in response to neurotransmitter agonists and antagonists. Patch clamp electrophysiology and immunohistochemical localization of glutamate receptors were also used to investigate direct-versus-indirect effects of neurotransmission by microglia. RESULTS: Retinal microglial morphology and dynamic behavior were not cell-autonomously regulated but are instead modulated by endogenous neurotransmission. Morphological parameters and process motility were differentially regulated by different modes of neurotransmission and were increased by ionotropic glutamatergic neurotransmission and decreased by ionotropic GABAergic neurotransmission. These neurotransmitter influences on retinal microglia were however unlikely to be directly mediated; local applications of neurotransmitters were unable to elicit electrical responses on microglia patch-clamp recordings and ionotropic glutamatergic receptors were not located on microglial cell bodies or processes by immunofluorescent labeling. Instead, these influences were mediated indirectly via extracellular ATP, released in response to glutamatergic neurotransmission through probenecid-sensitive pannexin hemichannels. CONCLUSIONS: Our results demonstrate that neurotransmission plays an endogenous role in regulating the morphology and behavior of "resting" microglia in the retina. These findings illustrate a mode of constitutive signaling between the neural and immune compartments of the CNS through which immune cells may be regulated in concert with levels of neural activity.
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Microglia/citologia , Receptores de GABA , Receptores Ionotrópicos de Glutamato , Retina/citologia , Transmissão Sináptica/fisiologia , Animais , Forma Celular , Proteínas de Fluorescência Verde , Sistema Imunitário/citologia , Técnicas In Vitro , Camundongos , Microscopia de VídeoRESUMO
PURPOSE: To characterize changes in macular sensitivity during geographic atrophy (GA) progression using microperimetry. METHODS: Retinal sensitivity in the macular area was evaluated by microperimetry in 10 patients with bilateral GA, with adequate data obtained in 9 of 10 patients (n = 18 eyes). Patients had been enrolled in an interventional trial in which one eye had been randomized to treatment and the other eye observed. No treatment effect with regard to GA growth and microperimetric measurements was detected, and all eyes were analyzed. Microperimetric assessments of the central 20° of the macula were performed every 6 months over 24 months. Parameters analyzed included number of scotomatous points, mean retinal sensitivity of responding points, and fixation stability. Autofluorescence imaging and fundus photography were also obtained. RESULTS: Microperimetric parameters demonstrated statistically significant changes as a function of time. Mean number of scotomatous points increased significantly with time (P = 0.004) at a rate of 4.4 points/year. Mean retinal sensitivities of all points, all responding points, and all perilesional points all decreased significantly with time (P < 0.003), as did fixation quality within the 2° and 4° circles (P < 0.002). The growth of GA lesion area was associated with the changes in the number of scotomatous points (P = 0.01) but not with changes in the other microperimetric parameters. CONCLUSIONS: Macular sensitivity and fixation quality undergo progressive change during the GA progression, reflecting alterations in macular function extending beyond the GA lesion proper. Microperimetric measurements may provide useful functional outcome measures for the clinical study of GA.
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Atrofia Geográfica/fisiopatologia , Retina/fisiopatologia , Escotoma/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Humanos , Masculino , Acuidade Visual/fisiologia , Testes de Campo VisualRESUMO
PURPOSE: von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease. METHODS: Participants with clinically defined VHL disease and documented germline missense mutations in the VHL gene were identified in a cross-sectional study (n=412). Statistical analysis was used to correlate the position of the missense mutation in either the alpha- or beta-domain of the VHL protein with the ocular disease phenotype. RESULTS: Missense mutations among study participants were located in 47 of the 213 possible codons in the VHL gene. Almost all mutations (98.5%) were located in one of two structural domains of the VHL protein: the alpha- and beta-domains. alpha-Domain mutations were significantly associated with a higher prevalence of retinal capillary hemangioblastomas (RCHs) compared with the beta-domain mutations (P=0.016). Among patients with RCHs, the prevalence of the lesions in the juxtapapillary position was also significantly higher in patients with alpha-domain mutations (P=0.0017). Conversely, beta-domain mutations correlated with a higher prevalence of peripherally located RCHs (P=0.0104). CONCLUSIONS: The location of missense mutations in the VHL gene correlates significantly with the prevalence and phenotype of ocular disease, and as such, influences the risk of visual loss in affected patients. These genotype-phenotype correlations can assist in the prognostic counseling and follow-up of VHL patients and may provide a basis for molecular inferences on ocular VHL disease pathogenesis.