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1.
Retina ; 38(3): 516-522, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28221254

RESUMEN

PURPOSE: To determine the presenting characteristics of patients with neovascular age-related macular degeneration with long-term remission (LTR), which was defined as the absence of intraretinal/subretinal fluid, or hemorrhage, and absence of leakage on fluorescein angiography for longer than 6 months while on as-needed antivascular endothelial growth factor treatment. METHODS: The presenting characteristics of patients with LTR were compared with a control group including 32 eyes of 28 age-, gender-, and ethnicity-matched patients who did not achieve LTR. RESULTS: Seventy-four percent of patients in the LTR group had Type 1 choroidal neovascular membrane and 18.5% had retinal angiomatous proliferation. In the control group, 28 eyes had Type 1 choroidal neovascular membrane (87.5%), and none of the patients had retinal angiomatous proliferation; overall, there was a significant difference in lesion types between the 2 groups (P = 0.036). Eyes with LTR at presentation had significantly thinner subfoveal choroidal thickness (147 vs. 178 µm, P = 0.04). There was more intraretinal fluid and less subretinal fluid at the presentation in the remission group (59.3% intraretinal fluid and 11.1% subretinal fluid) compared with the control group (28.1% intraretinal fluid and 34.4% subretinal fluid, P = 0.03). CONCLUSION: The presence of retinal angiomatous proliferation, thinner choroidal thickness, more intraretinal fluid, and less subretinal fluid at presentation were associated with LTR in patients receiving as-needed treatment for age-related macular degeneration.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Bevacizumab/uso terapéutico , Neovascularización Coroidal/tratamiento farmacológico , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Neovascularización Coroidal/patología , Femenino , Humanos , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Factor A de Crecimiento Endotelial Vascular/metabolismo , Degeneración Macular Húmeda/patología
2.
Retina ; 38(11): 2159-2167, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29117065

RESUMEN

PURPOSE: Geographic atrophy (GA) is the sequelae of macular degeneration. Automated inner retinal analysis using optical coherence tomography is flawed because segmentation software is calibrated for normal eyes. The purpose of this study is to determine whether ganglion cell layer (GCL) volume is reduced in GA using manual analysis. METHODS: Nineteen eyes with subfoveal GA and 22 controls were selected for morphometric analyses. Heidelberg scanning laser ophthalmoscope optical coherence tomography images of the optic nerve and macula were obtained, and the Viewing Module was used to manually calibrate retinal layer segmentation. Retinal layer volumes in the central 3-mm and surrounding 6-mm diameter were measured. Linear mixed models were used for statistics. RESULTS: The GCL volume in the central 3 mm of the macula is less (P = 0.003), and the retinal nerve fiber layer volume is more (P = 0.02) in patients with GA when compared with controls. Ganglion cell layer volume positively correlated with outer nuclear layer volume (P = 0.020). CONCLUSION: The patients with geographic atrophy have a small significant loss of the GCL. Ganglion cell death may precede axonal loss, and increased macular retinal nerve fiber layer volumes are not indicative of GCL volume. Residual ganglion cell stimulation by interneurons may enable vision in patients with GA.


Asunto(s)
Atrofia Geográfica/diagnóstico , Mácula Lútea/patología , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Anciano , Tamaño de la Célula , Femenino , Estudios de Seguimiento , Humanos , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos , Agudeza Visual
3.
Retina ; 38(6): 1156-1165, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28604541

RESUMEN

PURPOSE: To determine the efficacy of monthly (0.1 mL/4 mg) aflibercept for refractory neovascular age-related macular degeneration (wet age-related macular degeneration). METHODS: This was a retrospective interventional case series in which patients with wet age-related macular degeneration were treated with stepwise dose escalation. Nonvitrectomized patients resistant to monthly (Q4W) ranibizumab/bevacizumab were switched to 2 mg aflibercept every 8 weeks. With resistance, they were escalated to Q4W 2 mg aflibercept, then Q4W 4 mg (high dose high frequency, 4Q4W) aflibercept. Resistance was defined as ≥2 recurrences after being dry following ≥3 injections or persistent exudation on treatment of ≥5 injections. RESULTS: Thirty-three eyes of 28 patients were treated with 4Q4W aflibercept and followed for a mean of 16 months. A dry retina (no intraretinal or subretinal fluid) was achieved after initiating 4Q4W aflibercept treatment at a mean of 3.8 months. Central foveal thickness, maximum foveal thickness, intraretinal fluid, subretinal fluid, and retinal pigment detachment height decreased significantly at 1 month after initiating the 4Q4W aflibercept, and the morphologic therapeutic effect was sustained until the last visit. Forty-five percent of eyes had one or more lines of vision improvement. New geographic atrophy developed in 9% of eyes during follow-up. No ocular or systemic adverse events occurred after initiating 4Q4W aflibercept. CONCLUSION: Intravitreal high-dose high-frequency aflibercept is an effective treatment for patients with refractory wet age-related macular degeneration.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Sustitución de Medicamentos , Femenino , Humanos , Inyecciones Intravítreas , Masculino , Estudios Retrospectivos , Agudeza Visual
4.
Retina ; 38(8): 1478-1484, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-28650925

RESUMEN

PURPOSE: To characterize inner retinal damage in patients with dry age-related macular degeneration (AMD) using high-resolution spectral domain optical coherence tomography images. METHODS: Sixty eyes of 60 patients with AMD were categorized using the Age-Related Eye Disease Study (AREDS) severity scale. Spectral domain optical coherence tomography images of these patients were quantified by manually correcting the segmentation of each retinal layer, including the retinal nerve fiber layer, ganglion cell layer, and inner plexiform layer to ensure accurate delineation of layers. The mean ganglion cell complex thickness values (ganglion cell layer + inner plexiform layer + retinal nerve fiber layer) were compared with 30 eyes of 30 healthy subjects. RESULTS: Ninety percent of eyes (81 eyes) required manual correction of segmentation. Compared with healthy subjects, mean ganglion cell complex thicknesses significantly decreased in more advanced dry AMD eyes, and this decrease was predominantly related to a change in inner plexiform layer thickness. There was no significant difference in thickness-related measurements between milder dry AMD (AREDS-2) eyes and healthy eyes (P > 0.05). CONCLUSION: In patients with dry AMD, automatic optical coherence tomography segmentation algorithms may be erroneous. As the severity of dry AMD increases, the inner plexiform layer layer becomes thinned, suggesting that transsynaptic degeneration may be occurring, as the photoreceptor layer is affected by AMD.


Asunto(s)
Degeneración Macular/patología , Retina/patología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Degeneración Macular/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Fibras Nerviosas/patología , Retina/diagnóstico por imagen , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Agudeza Visual
5.
J Nutr ; 143(7): 1129-35, 2013 07.
Artículo en Inglés | MEDLINE | ID: mdl-23677863

RESUMEN

The Age-Related Eye Diseases Study 2 (AREDS2) clinical trial is assessing the effects of higher dietary xanthophyll (lutein and zeaxanthin) and long-chain n3 polyunsaturated fatty acid (LCPUFA) docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) intake on progression to advanced age-related macular degeneration (AMD). This study's purpose was to examine the retinal effects of the AREDS2 formulation on Chemokine (C-C motif) ligand 2 (Ccl2(-/-))/CX3C chemokine receptor 1 (Cx3cr1(-/-)) mice on Crumbs homolog 1 retinal degeneration phenotype 8 (Crb1(rd8)) background (DKO), which develop focal retinal lesions with certain features similar to AMD. DKO and C57BL/6N rd8 background mice (WT) were bred and randomized into 4 groups. Two groups, WT mice on AREDS2 diet (A-WT) and DKO mice on AREDS2 diet (A-DKO), were supplemented daily with 1.76 µmol of lutein, 35.1 µmol of zeaxanthin, 215 µmol EPA, and 107 µmol of DHA, and 2 control groups, WT mice on control diet (C-WT) and DKO mice on control diet (C-DKO), were fed an isocaloric diet. All mice had monthly fundus photos and were killed after 3 mo for biochemical and histologic analyses. After 3 mo, 81% of A-DKO mice had lesion regression compared with 25% of C-DKO mice (P < 0.05). Toxic retinal 2-[2,6-dimethyl-8-(2,6,6-trimethyl-1-cyclohexen-1-yl)-1E,3E,5E,7E-octatetra-enyl]-1-(2-hydroxyethyl)-4-[4-methyl-6(2,6,6-trimethyl-1-cyclohexen-1-yl) 1E,3E,5E,7E-hexatrienyl]-pyridinium (A2E) concentrations were significantly lower in A-DKO compared with C-DKO mice. The outer nuclear layer thickness in A-DKO mice was significantly greater than that in C-DKO mice. Retinal expression of inducible nitric oxide synthase (iNos) tumor necrosis factor-α (Tnf-α), Cyclooxygenase-2 (Cox-2), interleukin1beta (IL-1ß), and vascular endothelial growth factor (Vegf) was significantly lower in A-DKO compared with C-DKO mice. Xanthophylls and LCPUFAs have antiinflammatory, neuroprotective, and antiangiogenic properties. Our data provide potential mechanisms by which the AREDS2 formula has a protective effect on retinal lesions in DKO mice.


Asunto(s)
Suplementos Dietéticos , Ácidos Docosahexaenoicos/administración & dosificación , Ácido Eicosapentaenoico/administración & dosificación , Luteína/administración & dosificación , Factor A de Crecimiento Endotelial Vascular/genética , Xantófilas/administración & dosificación , Inhibidores de la Angiogénesis/administración & dosificación , Animales , Antiinflamatorios/administración & dosificación , Receptor 1 de Quimiocinas CX3C , Quimiocina CCL2/genética , Quimiocina CCL2/metabolismo , Ciclooxigenasa 2/genética , Ciclooxigenasa 2/metabolismo , Perfilación de la Expresión Génica , Interleucina-1beta/genética , Interleucina-1beta/metabolismo , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/genética , Degeneración Macular/patología , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Microscopía Electrónica de Transmisión , Óxido Nítrico Sintasa de Tipo II/genética , Óxido Nítrico Sintasa de Tipo II/metabolismo , Fenotipo , Compuestos de Piridinio/farmacocinética , Receptores de Quimiocina/genética , Receptores de Quimiocina/metabolismo , Retina/efectos de los fármacos , Retina/metabolismo , Degeneración Retiniana/tratamiento farmacológico , Degeneración Retiniana/genética , Degeneración Retiniana/patología , Retinoides/farmacocinética , Factor de Necrosis Tumoral alfa/genética , Factor de Necrosis Tumoral alfa/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Zeaxantinas
6.
Graefes Arch Clin Exp Ophthalmol ; 250(10): 1541-8, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22628023

RESUMEN

OBJECTIVES: Most primary central nervous system lymphomas (PCNSLs) and primary vitreoretinal lymphomas (PVRLs) are B-cell lymphomas that produce high levels of interleukin (IL)-10, which is linked to rapid disease progression. The IL-10 (-1082) G → A polymorphism (IL-10 SNP) is associated with improved survival in certain non-CNS lymphoma patients. PDCD4 is a tumor suppressor gene and upstream regulator of IL-10. This study examined the correlation between the IL-10 SNP, PDCD4 mRNA expression, and IL-10 expression (at transcript and protein levels) in these lymphoma cells. MATERIALS AND METHODS: Single-nucleotide polymorphism (SNP)-typing at IL-10 (-1082) was performed after microdissecting cytospun PVRL cells from 26 specimens. Vitreal IL-10 and IL-6 levels were measured by ELISA. PCNSL cells from 52 paraffin-embedded sections were microdissected and SNP typed on genomic DNA. RT-PCR was performed to analyze expression of IL-10 and PDCD4 mRNA. IL-10 (-1082) SNP typing was performed on blood samples of 96 healthy controls. We measured IL-10 (-1082) SNP expression in 26 PVRLs and 52 PCNSLs and examined its relationship with IL-10 protein and gene expression, respectively. RESULTS: More PVRL patients expressed one copy of the IL-10 ( -1082 ) G → A SNP with the GA genotype compared to controls. The frequencies of the three genotypes (AA, AG, GG) significantly differed in PVRL versus controls and in PCNSL versus controls. In PVRLs, the vitreal IL-10/IL-6 ratio was higher in IL-10 (-1082) AG and IL-10 (-1082) AA patients, compared to IL-10 (-1082) GG patients. IL-10 mRNA expression was higher in IL-10 (-1082) AG and IL-10 (-1082) AA PCNSLs, compared to IL-10 (-1082) GG PCNSLs. No correlation was found between IL-10 and PDCD4 expression levels in 37 PCNSL samples. CONCLUSIONS: PVRL and PCNSL patients had similar IL-10 (-1082) A allele frequencies, but genotype distributions differed from healthy controls. The findings suggest that the IL-10 (-1082) A allele is a risk factor for higher IL-10 levels in PVRLs and PCNSLs. Higher IL-10 levels have been correlated with more aggressive disease in both PVRLs and PCNSLs, making this finding an important and potentially clinically significant observation.


Asunto(s)
Neoplasias Encefálicas/genética , Neoplasias del Ojo/genética , Interleucina-10/genética , Linfoma de Células B/genética , Polimorfismo de Nucleótido Simple , Neoplasias de la Retina/genética , Cuerpo Vítreo/patología , Adulto , Anciano , Anciano de 80 o más Años , Proteínas Reguladoras de la Apoptosis/genética , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patología , Ensayo de Inmunoadsorción Enzimática , Neoplasias del Ojo/metabolismo , Neoplasias del Ojo/patología , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Linfoma de Células B/metabolismo , Linfoma de Células B/patología , Masculino , Persona de Mediana Edad , ARN Mensajero/metabolismo , Proteínas de Unión al ARN/genética , Neoplasias de la Retina/metabolismo , Neoplasias de la Retina/patología , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Cuerpo Vítreo/metabolismo , Adulto Joven
7.
Retina ; 37(9): e110-e112, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28820853
8.
Cureus ; 14(10): e30881, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36337789

RESUMEN

Objective In this study, we aimed to investigate whether zinc provided in Age-Related Eye Disease Study 2 (AREDS2) vitamins is associated with a decreased risk of contracting coronavirus disease 2019 (COVID-19). Materials and methods We conducted a retrospective observational cohort study involving patients at a retina-only practice who were provided a questionnaire at each visit to assess whether they were symptomatic of or had contracted COVID-19. Those who answered yes to testing positive for COVID-19 were retrospectively analyzed and categorized based on their AREDS2 vitamin use, and a Pearson's chi-squared test was performed. Demographic data and past ocular history were also analyzed. Results A total of 8,426 unique patients, including 2,111 with a diagnosis of age-related macular degeneration (AMD), were seen from April 1, 2020, to April 9, 2021. A total of 110 patients (1.3%) reported contracting COVID-19 and had positive COVID-19 tests. The average age of those who had contracted COVID-19 in this study was 68.3 years; 51.8% were male, 30.1% had AMD, 28.2% had diabetic retinopathy, 24.5% had surgical retinal disease, 11.8% had retinal vascular disease, and 4.5% had other disease states. Of the COVID-19-positive patients, 27.3% (30/110) took AREDS2 vitamins, while 72.7% (80/110) patients did not. A chi-squared analysis was performed, which was not statistically significant (p=0.667). Conclusions Oral zinc supplementation, in the form of AREDS2 vitamins, is not associated with a protective effect against contracting COVID-19.

9.
Int J Retina Vitreous ; 8(1): 11, 2022 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-35144686

RESUMEN

BACKGROUND: This study explores the long term anatomic and functional results of patients who were switched to intravitreal aflibercept injections (IAI) after being initially managed with other anti-VEGF agents for neovascular age-related macular degeneration (nAMD). METHODS: Patients with nAMD were included if they started with another anti-VEGF agent and were switched to IAI. Subjects had at least 3 years of consistent therapy with IAI and at least 1 injection quarterly. RESULTS: Eighty-eight patients had at least 3 years of treatment while 58 of those patients, had at least 4 years of IAI. Average treatment time with other anti-VEGF agents was 32 months prior to switching. Baseline best corrected vision (VA) was 59.4 letters (20/70 + 2). At time of switch, VA increased significantly to 66.7 letters (20/50 + 2). At 3 months after switch, VA increased significantly to 69.0 (20/40-) letters. After 3 years of consistent IAI, vision was 67.5 letters (20/40-2), and for those patients that completed 4 years of therapy, the average VA was 66.0 letters (20/50 + 2), with a gain of 6.6 letters over baseline vision. 32.1% of patients gained 3 or more lines of vision. Initial central macular thickness (CMT) was 369 µm, which improved to 347 µm at time of switch, and further improved at 3 months to 301 µm and was maintained over time. CONCLUSION: Patients switched to IAI can maintain vision over the long term. Patients treated on average for 5.7 years, had a visual gain of 8.1 letters after 3 years and 6.6 letters after 4 years of IAI therapy. CMT significantly improved following the switch and was maintained.

10.
Surv Ophthalmol ; 64(4): 579-583, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-29024674

RESUMEN

A 68-year-old woman with a recent history of blurring in the left eye had undergone mastectomy for breast cancer 20 years ago. A series of bone metastases started 5 years after her diagnosis. Examination of the optic nerve head of the left eye revealed an isolated peripapillary mass. Indocyanine green angiography displayed vessels within the mass, and fluorescein angiography demonstrated hyperfluorescence of the mass from vascular leakage plus lobular spots of blocked fluorescence. B-scan ultrasound revealed a hyperechoic-elevated nodular mass on the optic disc. Spectral-domain optical coherence tomography displayed a mass of spherules. Magnetic resonance imaging of the brain demonstrated metastatic tumors. She was diagnosed with an optic disk metastasis from her breast carcinoma.


Asunto(s)
Neoplasias de la Mama/patología , Carcinoma/secundario , Neoplasias del Nervio Óptico/secundario , Anciano , Femenino , Humanos
11.
Ophthalmic Surg Lasers Imaging Retina ; 50(9): 580-585, 2019 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-31589756

RESUMEN

BACKGROUND AND OBJECTIVE: Approximately 16,000 children in the United States lose vision each year because of retinal disease. The authors compare digital ultra-widefield (UWF) photography to indirect ophthalmoscopy in children. PATIENTS AND METHODS: Prospective, single-center study of patients ages 3 to 17 years. Retinal area during indirect ophthalmoscopy was compared with retinal area in digital UWF fundus photographs. Image quality was graded. A survey to assess the usefulness of the retinal image was obtained. RESULTS: The retinal area (mean ± standard deviation, mm2) evaluated with indirect ophthalmoscopy was 413 ± 194 mm2, compared with 652 ± 117 mm2 with widefield photography (P < .001). The difference was largest in children younger than 14. Image quality was significantly associated with patient cooperation. CONCLUSIONS: High-quality UWF photographs evaluate more peripheral retina than the in-office dilated funduscopic exam in children under 14. Photography assisted with family counseling in 17% of patients and the avoidance of examination under anesthesia in 2% of patients. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:580-585.].


Asunto(s)
Oftalmoscopía/métodos , Fotograbar/métodos , Enfermedades de la Retina/diagnóstico por imagen , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Examen Físico , Estudios Prospectivos , Reproducibilidad de los Resultados
12.
Pediatr Blood Cancer ; 50(2): 402-6, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17091485

RESUMEN

Chemotherapy is an essential modality in the treatment of retinoblastoma (RB). Mammalian serine/arginine-rich protein-specific kinase 1 (SRPK1) is a cisplatin-sensitivity-related protein and its downregulation is known to be associated with decreased response to cisplatin and carboplatin. We investigated the expression of SRPK1 in 63 archival RB and correlated its expression with pathologic staging and exposure to chemotherapy. The majority of the RB (62/63) were advanced stage (Groups D and E) with intermediate to high risk of treatment failure according to the new international classification for intraocular RB and SRPK1 was reduced in 32/62 (51%) tumors. SRPK1 protein expression was reduced in (100%) 8/8 RB that had recurred in the orbit or had metastasized. SRPK1 protein expression is reduced in RB with advanced stage of presentation and this may add to drug resistance mechanisms in RB.


Asunto(s)
Antineoplásicos/farmacología , Cisplatino/farmacología , Proteínas Serina-Treonina Quinasas/biosíntesis , Neoplasias de la Retina/enzimología , Retinoblastoma/enzimología , Adolescente , Niño , Preescolar , Femenino , Humanos , Inmunohistoquímica , Lactante , Masculino , Estadificación de Neoplasias , Neoplasias de la Retina/tratamiento farmacológico , Neoplasias de la Retina/patología , Retinoblastoma/tratamiento farmacológico , Retinoblastoma/patología
13.
Genet Test Mol Biomarkers ; 21(2): 66-73, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28005406

RESUMEN

AIM: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons in the gene of interest were analyzed along with 20 base pairs of flanking intronic sequence. Genetic testing was most often performed on ABCA4, CTRP5, ELOV4, BEST1, CRB1, and PRPH2. Pathogenicity of novel sequence changes was predicted by PolyPhen2 and sorting intolerant from tolerant (SIFT). RESULTS: Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Analysis confirmed 12 (34%) of individuals as carriers of familial mutations associated with IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 (1). CONCLUSIONS: Targeted analysis of clinically suspected genes in 225 subjects resulted in a positive molecular diagnosis in 26% of patients with dominant IRD and 59% of patients with recessive IRD. Novel damaging mutations were identified in four genes. Single gene screening is not an ideal method for diagnostic testing given the phenotypic and genetic heterogeneity among IRD cases. High-throughput sequencing of all genes associated with retinal degeneration may be more efficient for molecular diagnosis.


Asunto(s)
Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Transportadoras de Casetes de Unión a ATP/genética , Transportadoras de Casetes de Unión a ATP/metabolismo , Bestrofinas , Canales de Cloruro/genética , Canales de Cloruro/metabolismo , Análisis Mutacional de ADN/métodos , Exones , Proteínas del Ojo/genética , Proteínas del Ojo/metabolismo , Femenino , Estudios de Asociación Genética , Asesoramiento Genético , Pruebas Genéticas/métodos , Heterocigoto , Humanos , Masculino , Técnicas de Diagnóstico Molecular/métodos , Mutación , Periferinas/genética , Periferinas/metabolismo , Retinitis Pigmentosa/genética , Inhibidor Tisular de Metaloproteinasa-3/genética , Inhibidor Tisular de Metaloproteinasa-3/metabolismo
14.
Ocul Immunol Inflamm ; 14(4): 207-13, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16911982

RESUMEN

PURPOSE: Human leukocyte antigen (HLA) mediates interactions of tumor cells with cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Retinoblastoma (RB) is the most common intraocular malignant tumor in childhood and is characterized by direct spread to the optic nerve and orbit as well as hematogenous and lymphatic spread. Earlier, we observed that invasive RB showed reduced HLA, which could contribute to its escape from the immune system. Little is known about the role of the nonclassical HLA molecule, HLA-G, in RB and its role in tumor escape mechanisms in RB. METHODS: Forty archival paraffin-embedded RB tumors were analyzed for the expression of HLA-G by immunohistochemistry using a monoclonal antibody; fresh tumor samples were also subjected to Western blot analysis. There were 22 tumors with no invasion and 18 with invasion of the choroid/optic nerve. Immunoanalysis was performed based on the International Histocompatibility Working Group Project Description. RESULTS: HLA-G was negative in the non-neoplastic retina, reduced in 22/22 tumors with no invasion, and positive in 15/18 with invasion. The immunohistochemistry results were confirmed by Western blot analysis. The difference in expression between the two groups was significant ( p < 0.001). There was no correlation of HLA-G expression with differentiation of the tumors. CONCLUSION: Increased expression of HLA-G was observed in invasive RB. This preliminary observation deserves further investigation and may shed more light on the immune escape mechanisms of this tumor and thus enable novel therapeutic strategies.


Asunto(s)
Antígenos HLA/metabolismo , Antígenos de Histocompatibilidad Clase I/metabolismo , Neoplasias de la Retina/metabolismo , Retinoblastoma/metabolismo , Anticuerpos Monoclonales , Western Blotting , Niño , Preescolar , Femenino , Antígenos HLA-G , Humanos , Técnicas para Inmunoenzimas , Lactante , Masculino , Invasividad Neoplásica , Neoplasias de la Retina/patología , Retinoblastoma/patología
15.
Surv Ophthalmol ; 61(4): 506-11, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26656927

RESUMEN

An infant presented with bilateral disk edema and an acute left sixth cranial nerve (CN VI) palsy because of pseudotumor cerebri (PTC). PTC is rare in infants where it is often associated with endocrine abnormalities, medications, viral infections, systemic conditions, and nutritional etiologies such as vitamin A toxicity. We report a case of PTC in an infant associated with hypervitaminosis A with an unlikely source-a common prenatal vitamin.


Asunto(s)
Hipervitaminosis A/complicaciones , Nervio Óptico/diagnóstico por imagen , Seudotumor Cerebral/diagnóstico , Vitamina A/efectos adversos , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Seudotumor Cerebral/etiología , Vitaminas/efectos adversos
16.
Br J Ophthalmol ; 100(6): 777-81, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26385093

RESUMEN

AIM: To investigate patients' sensory phenomena, especially instrument visualisation, and their emotional reactions during pars plana vitrectomy (PPV) under monitored anaesthesia care (MAC). METHODS: One hundred adults who underwent PPV under MAC plus peribulbar block were prospectively recruited on the day after surgery to complete a questionnaire about sensory phenomena and comfort. Anaesthetics used during surgery were correlated with visual phenomena and patient comfort. Surgeons were asked to predict patient intraoperative comfort and ability to hear. RESULTS: Of the 27% of patients who reported visual phenomena, lights (74%), colours (37%) and moving instruments (17%) were common. Instrument visualisation was not associated with any preoperative or intraoperative variables. Visual phenomena were neutrally received by 98% of patients. Neither the use of the intravenous medications during the peribulbar injection and surgery nor the type of local anaesthesia correlated with perceived level of pain. Sixty-six per cent of patients remembered hearing surgeons talk, and 96% of patients reacted neutrally to voices. Patient reports of intraoperative pain were similar to the surgeon's prediction, and mean discomfort during surgery was mild. CONCLUSIONS: The reported prevalence of intraoperative visual phenomena is low when elicited at the first postoperative visit. Surgeons can reliably predict patients' comfort, and most patients react neutrally to visual and hearing phenomena during PPV under MAC with peribulbar block. The combination of medications used may be responsible for the neutral reception of sensory phenomena.


Asunto(s)
Anestesia Local/métodos , Anestésicos Locales/administración & dosificación , Monitoreo Intraoperatorio/métodos , Bloqueo Nervioso/métodos , Percepción Visual/fisiología , Vitrectomía/métodos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Estudios Retrospectivos , Encuestas y Cuestionarios
17.
Arch Ophthalmol ; 123(4): 486-90, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15824221

RESUMEN

OBJECTIVES: To study the prevalence and associations of asteroid hyalosis (AH) in a series of autopsy eyes. METHODS: Retrospective review of the University of California at Los Angeles (UCLA) autopsy eye database from 1965 to 2000 yielded 10,801 patients. The patients' medical histories were reviewed for evidence of diabetes mellitus, hypertension, hyperlipidemia, alcohol abuse, hypercalcemia, hypothyroidism, and chronic renal failure. Autopsy records were searched for evidence of optic atrophy, macular degeneration, posterior vitreous detachment, atherosclerosis, and chronic renal failure. Asteroid hyalosis was diagnosed by examination of the autopsy eyes. Univariate and multivariate statistical methods were used to analyze our data. RESULTS: The prevalence of AH was 1.96% in this autopsy population. By chi(2) analysis, AH was significantly correlated with age (P<.001), male sex (P = .006), age-related macular degeneration (P = .02), hypertension (P = .03), atherosclerosis (P<.001), and posterior vitreous attachment (P<.001). After adjusting for age in a multivariate logistic regression analysis, statistical significance was found only for posterior vitreous attachment (P = .002) and male sex (P = .046). No statistically significant association was found with diabetes mellitus or alcohol abuse by univariate or multivariate analysis. Analysis of the odds ratio showed a strong age effect that increased from 5.0 (95% confidence interval, 2.2-11.3) in age group 41 to 50 years, compared with 25.4 (95% Wald confidence interval, 8.2-77.9) in the age group of patients older than 90 years. CONCLUSIONS: A unique epidemiological autopsy cohort study of AH and its systemic associations yielded a higher prevalence of AH than previous studies. Asteroid hyalosis was strongly correlated with age and inversely correlated with posterior vitreous detachment. Unlike some previous reports, we found no statistically significant correlation between AH and diabetes mellitus.


Asunto(s)
Oftalmopatías/epidemiología , Cuerpo Vítreo/patología , Centros Médicos Académicos/estadística & datos numéricos , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Autopsia , Calcio/metabolismo , Niño , Preescolar , Estudios Transversales , Bases de Datos Factuales , Oftalmopatías/diagnóstico , Oftalmopatías/metabolismo , Femenino , Humanos , Lactante , Recién Nacido , Los Angeles/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Distribución por Sexo , Cuerpo Vítreo/metabolismo
18.
Indian J Ophthalmol ; 62(10): 1036-9, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25449946

RESUMEN

A 60-year-old woman with a history of chronic alcoholism and tobacco use presented with the complaint of a painless decrease in vision in both eyes. She lost vision first in the left eye then in the right eye. She admitted consuming at least one 16 ounce bottle of over the counter mouthwash daily and denied consumption of any other alcohols, methanol, or antifreeze. She stated that her vision had been continuing to deteriorate in both eyes. Her best-corrected visual acuity was 4/200 in each eye. Color vision was nil in each eye. Her pupils were sluggish bilaterally, and her optic discs were flat and hyperemic with peripapillary hemorrhages. Her visual fields revealed central scotomas bilaterally. The magnetic resonance imaging of the brain and lumbar puncture were within normal limits. Antinuclear antibody, human leukocyte antigen-B27 genotyping, and B12 were normal; serum thiamine was low. While continuing to ingest mouthwash, her vision decreased to count fingers at 2 feet, and maculopapillary bundle pallor developed. She was started on folate and thiamine supplementation. Once she discontinued mouthwash, her vision improved to 20/400 bilaterally, and her central scotomas improved. This case demonstrates an alcohol-induced toxic optic neuropathy from mouthwash ingestion with some visual recovery after discontinuation of the offending agent.


Asunto(s)
Alcoholismo/complicaciones , Enfermedades del Nervio Óptico/etiología , Nervio Óptico/patología , Enfermedad Crónica , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Enfermedades del Nervio Óptico/diagnóstico , Tomografía de Coherencia Óptica
20.
J Oncol ; 2013: 975908, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23577029

RESUMEN

While pediatric orbital tumors are most often managed in tertiary care centers, clinicians should be aware of the signs of intraocular and orbital neoplasms. In the pediatric population, a delay in diagnosis of orbital and intraocular lesions, even if benign, can lead to vision loss and deformity. Intraocular lesions reviewed are retinoblastoma, medulloepithelioma, and retinal astrocytic hamartoma. Orbital neoplasms reviewed are rhabdomyosarcoma, neuroblastoma metastases, optic pathway glioma, plexiform neurofibroma, leukemia, lymphoprolipherative disease, orbital inflammatory syndrome, dermoid and epidermoid inclusion cysts, and Langerhans' cell histiocytosis. Vascular lesions reviewed are infantile hemangioma and venous lymphatic malformation. In conjunction with clinical examination, high-resolution ophthalmic imaging and radiologic imaging play an important role in making a diagnosis and differentiating between benign and likely malignant processes. The radiologic imaging characteristics of these lesions will be discussed to facilitate prompt diagnosis and treatment. The current treatment modalities and management of tumors will also be reviewed.

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