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1.
Mol Med ; 30(1): 109, 2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39060957

RESUMEN

Primary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt and Shh. In turn, the regulation of ciliogenesis and cilium length is influenced by various factors, including autophagy, organization of the actin cytoskeleton, and signaling inside the cilium. Irregularities in the development, maintenance, and function of this cellular component lead to a range of clinical manifestations known as ciliopathies. The majority of people with ciliopathies have a high prevalence of retinal degeneration. The most common theory is that retinal degeneration is primarily caused by functional and developmental problems within retinal photoreceptors. The contribution of other ciliated retinal cell types to retinal degeneration has not been explored to date. In this review, we examine the occurrence of primary cilia in various retinal cell types and their significance in pathology. Additionally, we explore potential therapeutic approaches targeting ciliopathies. By engaging in this endeavor, we present new ideas that elucidate innovative concepts for the future investigation and treatment of retinal ciliopathies.


Asunto(s)
Cilios , Ciliopatías , Enfermedades Neurodegenerativas , Retina , Cilios/metabolismo , Cilios/patología , Humanos , Ciliopatías/genética , Ciliopatías/metabolismo , Ciliopatías/patología , Animales , Retina/metabolismo , Retina/patología , Enfermedades Neurodegenerativas/metabolismo , Enfermedades Neurodegenerativas/etiología , Enfermedades Neurodegenerativas/patología , Degeneración Retiniana/metabolismo , Degeneración Retiniana/patología , Degeneración Retiniana/etiología , Transducción de Señal
2.
J Clin Med ; 13(14)2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39064267

RESUMEN

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness worldwide and a severe medical and social problem. The steadily increasing number of patients is related to the aging of the population. So far, many factors affecting the development of AMD have been identified, which can be divided into non-modifiable, including genetic factors, age, and sex, and modifiable or environmental factors, such as smoking, poor diet, and hypertension. Early stages of age-related macular degeneration are characterized by fundus drusen and abnormalities in the retinal pigment epithelium. In late stages, geographic atrophy and choroidal neovascularization (CNV) are observed. The treatment of AMD, especially its advanced forms, is very challenging. Intensive research has made it possible to treat advanced stages of the dry form of AMD with pegcetacoplan and avacincaptad pegol, new drugs approved for use in the US. Pegcetacoplan targets the C3 and avacincaptad pegol targets the C5, the pivotal proteins of the complement cascade. The drugs are administered by intravitreal injection. The gold standard for neovascular AMD (nAMD) consists of intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF) drugs such as bevacizumab, ranibizumab, aflibercept, brolucizumab, and faricimab. Treatment can be administered according to the fixed, pro-re-nata, and treat-and-extend regimens. The latter seems to have the best effect on improving visual acuity (VA) and the maximum therapeutic benefit. The search continues for the best ways to deliver intravitreal drugs. Current methods include sustained-release implants and hydrogel platforms for drug release, while the most promising future pathways for treating dry and nAMD are stem cell and gene therapy.

3.
Int J Mol Sci ; 25(10)2024 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-38791518

RESUMEN

Corneal neovascularization can impair vision and result in a poor quality of life. The pathogenesis involves a complex interplay of angiogenic factors, notably vascular endothelial growth factor (VEGF). This review provides a comprehensive overview of potential therapies for corneal neovascularization, covering tissue inhibitors of metalloproteinases (TIMPs), transforming growth factor beta (TGF-ß) inhibitors, interleukin-1L receptor antagonist (IL-1 Ra), nitric oxide synthase (NOS) isoforms, galectin-3 inhibitors, retinal pigment epithelium-derived factor (PEDF), platelet-derived growth factor (PDGF) receptor inhibitors, and surgical treatments. Conventional treatments include anti-VEGF therapy and laser interventions, while emerging therapies such as immunosuppressive drugs (cyclosporine and rapamycin) have been explored. Losartan and decorin are potential antifibrotic agents that mitigate TGF-ß-induced fibrosis. Ocular nanosystems are innovative drug-delivery platforms that facilitate the targeted release of therapeutic agents. Gene therapies, such as small interfering RNA and antisense oligonucleotides, are promising approaches for selectively inhibiting angiogenesis-related gene expression. Aganirsen is efficacious in reducing the corneal neovascularization area without significant adverse effects. These multifaceted approaches underscore the corneal neovascularization management complexity and highlight ideas for enhancing therapeutic outcomes. Furthermore, the importance of combination therapies and the need for further research to develop specific inhibitors while considering their therapeutic efficacy and potential adverse effects are discussed.


Asunto(s)
Neovascularización de la Córnea , Humanos , Neovascularización de la Córnea/tratamiento farmacológico , Neovascularización de la Córnea/terapia , Neovascularización de la Córnea/metabolismo , Animales , Terapia Genética/métodos , Inhibidores de la Angiogénesis/uso terapéutico , Factor de Crecimiento Transformador beta/metabolismo
4.
Int J Mol Sci ; 25(5)2024 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-38474172

RESUMEN

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype-phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.


Asunto(s)
Albinismo Ocular , Enfermedades Hereditarias del Ojo , Enfermedades Genéticas Ligadas al Cromosoma X , Miopía , Ceguera Nocturna , Enfermedades de la Retina , Retinitis Pigmentosa , Retinosquisis , Masculino , Humanos , Preescolar , Lactante , Persona de Mediana Edad , Canales de Calcio Tipo L/metabolismo , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Retina/metabolismo , Mutación
5.
Medicina (Kaunas) ; 59(2)2023 Feb 17.
Artículo en Inglés | MEDLINE | ID: mdl-36837600

RESUMEN

Background: Cone-rod dystrophies (CRDs) are a heterogeneous group of inherited retinal diseases (IRDs) characterized by cone photoreceptor loss, that is followed by subsequent rod photoreceptor impairment. Case presentation: A 49-year-old man complaining of diminution of vision in both eyes (OU) was referred to our outpatient clinic. He reported visual loss for 5 years, but it was most progressive during the last few months. The best-corrected visual acuity (BCVA) at presentation was 0.4 in the right eye (RE) and 1.0 in the left eye (LE). Fundus fluorescein angiography (FFA) revealed granular hyperfluorescence in the macula and concomitant areas of capillary atrophy. Flash full-field electroretinography (ffERG) showed lowering of a and b waves as well as prolonged peak time in light-adapted conditions. However, outcomes of dark-adapted ERGs were within normal limits. Based on the constellation of clinical, angiographic, and electrophysiological tests findings, a diagnosis of IRD was suspected. Genetic testing showed a homozygous, pathogenic c.783G>A mutation in the cadherin-related family member 1 (CDHR1) gene, which confirmed CRD type 15 (CRD15). Conclusions: We demonstrate the clinical characteristics, retinal imaging outcomes, and genetic test results of a patient with CRD15. Our case contributes to expanding our knowledge of the clinical involvement of the pathogenic mutation c.783G>A in CDHR1 variants.


Asunto(s)
Distrofias de Conos y Bastones , Masculino , Humanos , Persona de Mediana Edad , Distrofias de Conos y Bastones/genética , Distrofias de Conos y Bastones/patología , Tomografía de Coherencia Óptica , Retina , Células Fotorreceptoras Retinianas Conos/patología , Células Fotorreceptoras Retinianas Conos/fisiología , Mutación , Pruebas Genéticas , Proteínas Relacionadas con las Cadherinas , Proteínas del Tejido Nervioso/genética
6.
Life (Basel) ; 14(1)2023 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-38276263

RESUMEN

PURPOSE: To examine the effectiveness of a standardized combination of intracameral mydriatics and anesthetic (SCIMA) on mydriasis in patients with coexisting diseases such as diabetes mellitus (DM) and pseudoexfoliation syndrome (PXF) during phacoemulsification. METHODS: Patients with cataract were included in the study if they achieved pupil dilation diameter ≥ 6.0 mm after the administration of mydriatic eyedrops (ME) during the first visit (V1). During the second visit (V2), pupil size measurements were obtained for phacoemulsification surgery with SCIMA. Effective mydriasis was defined as a pupil diameter ≥ 6.0 mm just prior to capsulorhexis without the use of additional pupil dilating agents. The measurements after ME administration during V1 and after SCIMA use during V2 were compared. RESULTS: 103 patients (103 eyes) were divided into 3 groups: cataract and DM (n = 35), cataract and PXF (n = 32), and cataract without DM or PXF (n = 36). SCIMA administration allowed the achievement of effective mydriasis (≥6.0 mm) in all groups (n = 103; 100%). Mydriasis was significantly larger (p ≤ 0.001) after ME (7.3 mm) than after SCIMA (6.8 mm) administration. CONCLUSIONS: Patients with cataract and such comorbidities as DM or PXF are likely to achieve effective pharmacological mydriasis during cataract phacoemulsification after SCIMA application. Mydriasis after ME is slower and larger, while SCIMA is faster.

7.
Pharmacol Rep ; 71(1): 175-182, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30554037

RESUMEN

BACKGROUND: Diabetic retinopathy (DR) is one of the most common complications of diabetes and the leading cause of acquired blindness in adults. In diabetic patients hyperglycemia induces complex metabolic abnormalities affecting retinal homeostasis, and promotes retinal inflammation and angiogenesis. Incretin mimetic drugs such exenatide, are a relatively new group of drugs used in the treatment of diabetes. We investigated the potential direct effects of exenatide on human retinal pigment epithelium (HRPE). METHODS: cAMP production was measured after stimulation of HRPE cells with GLP-1 and exenatide. Intracellular signaling pathways were also examined. HRPE cells were stimulated with TNF-α and subsequently incubated with exenatide. The concentration of metalloproteinases, MMP-1, MMP-2 and MMP-9, and tissue inhibitors of metalloproteinases, TIMP-1, TIMP-2, and TIMP-3 were evaluated. Viability, cytotoxicity and caspase 3/7 activation were determined. Activity of dipeptidyl peptidase-4 (DPP-4), an enzyme involved in GLP-1 inactivation, was also determined. RESULTS: Both GLP-1 and exenatide stimulation in HRPE cells caused no effect in cAMP levels suggesting alternative signaling pathways. Signaling pathway analysis showed that exenatide reduced phosphorylation of Akt-Ser473, PRAS40, SAPK/JNK, Bad, and S6 proteins but not Akt-Thr308. Exenatide also decreased MMP-1, MMP-9, and TIMP-2 protein levels whereas MMP-2 level in HRPE cells was increased. Finally, we show that exenatide decreased the activity of DPP-4 in TNF-α stimulated HRPE cells. CONCLUSIONS: These findings indicate that exenatide modulates regulation of extracellular matrix components involved in retinal remodeling.


Asunto(s)
Colagenasas/metabolismo , Células Epiteliales/efectos de los fármacos , Exenatida/farmacología , Hipoglucemiantes/farmacología , Incretinas/farmacología , Epitelio Pigmentado de la Retina/efectos de los fármacos , Inhibidores Tisulares de Metaloproteinasas/metabolismo , Factor de Necrosis Tumoral alfa/farmacología , Línea Celular , Células Epiteliales/enzimología , Matriz Extracelular/efectos de los fármacos , Matriz Extracelular/enzimología , Receptor del Péptido 1 Similar al Glucagón/agonistas , Receptor del Péptido 1 Similar al Glucagón/metabolismo , Humanos , Metaloproteinasa 1 de la Matriz/metabolismo , Metaloproteinasa 2 de la Matriz/metabolismo , Metaloproteinasa 9 de la Matriz/metabolismo , Fosforilación , Proteínas Proto-Oncogénicas c-akt/metabolismo , Epitelio Pigmentado de la Retina/enzimología , Transducción de Señal/efectos de los fármacos , Inhibidor Tisular de Metaloproteinasa-1/metabolismo , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Inhibidor Tisular de Metaloproteinasa-3/metabolismo
8.
Biomed Res Int ; 2018: 9051854, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30356371

RESUMEN

Head and neck squamous cell cancer (HNSCC) represents a significant burden worldwide. Chemoprevention of HNSCC is a means of cancer control with a use of drugs or natural agents in order to hinder or delay the cancer development. The purpose of this article is to review mechanism of action of different chemopreventive agents' groups and results of most important researches concerning them. The safety issues of HNSCC chemoprevention are also discussed. In case of HNSCC there is currently no agent, which would give positive result in the third phase of clinical trials. Promising results of preclinical trials are not always confirmed by further tests. Main problems are low effectiveness, high toxicity, and lack of highly specificity biomarkers for monitoring the research. New trials concerning many agents, as well as novel technologies for provision of pharmaceutical forms of them, including drug nanocarriers, are currently underway, which gives hope for finding the perfect chemopreventive agent formula.


Asunto(s)
Antineoplásicos/uso terapéutico , Carcinoma de Células Escamosas/prevención & control , Portadores de Fármacos/uso terapéutico , Neoplasias de Cabeza y Cuello/prevención & control , Nanopartículas/uso terapéutico , Antineoplásicos/efectos adversos , Carcinoma de Células Escamosas/epidemiología , Portadores de Fármacos/efectos adversos , Neoplasias de Cabeza y Cuello/epidemiología , Humanos , Nanopartículas/efectos adversos
9.
Acta Biochim Pol ; 62(2): 177-84, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25915522

RESUMEN

The aim of the present study was to investigate the association of age related macular degeneration (AMD) risk with some aspects of iron homeostasis: iron concentration in serum, level of soluble transferrin receptor (sTfR), and transferrin receptor (TFRC) genetic variability. Four hundred and ninety one AMD patients and 171 controls were enrolled in the study. Restriction fragment length polymorphism PCR was employed to genotype polymorphisms of the TFRC gene, and colorimetric assays were used to determine the level of iron and sTfR. Multiple logistic regression was applied for all genotype/allele-related analyses and the ANOVA test for iron and sTfR serum level comparison. We found that the genotypes and alleles of the c.-253G > A polymorphism of the TFRC gene were associated with AMD risk and this association was modulated by smoking status, AMD family history, living environment (rural/urban), body mass index and age. The levels of sTfR was higher in AMD patients than controls, whereas concentrations of iron did not differ in these two groups. No association was found between AMD occurrence and the p.Gly142Ser polymorphism of the TRFC gene. The results obtained suggest that transferrin receptor and variability of its gene may influence AMD risk.


Asunto(s)
Antígenos CD/sangre , Antígenos CD/genética , Degeneración Macular/genética , Polimorfismo Genético , Receptores de Transferrina/sangre , Receptores de Transferrina/genética , Anciano , Análisis de Varianza , Índice de Masa Corporal , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Hierro/sangre , Degeneración Macular/sangre , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple
10.
Acta Biochim Pol ; 61(2): 265-70, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24904926

RESUMEN

PURPOSE: Hyperglycemia and increased concentrations of elastin degradation products (EDPs) are common findings in patients with diabetes, atherosclerosis and hypertension. The aim of this study was to assess the influence of high glucose, EDPs and atorvastatin on MMP-1, MMP-2, MMP-9 and TIMP1-3 gene expression in human retinal pigment epithelial cells (HRPE) in vitro. METHOD: HRPE were cultured for 24 hours with the substances being tested (glucose, EDPs), alone or in combination. Additionally, the cells were treated with atorvastatin in two different concentrations (1 or 10 µM). After incubation, total cellular RNA was extracted and used for gene expression evaluation. Gene expression was measured using the real-time RT-PCR technique. RESULTS: Glucose, EDPs and atorvastatin had no impact on TIMP-1 and TIMP-3 expression. HRPE cells treated with glucose or EDPs with the addition of atorvastatin had a statistically significant decrease of TIMP-2 expression; glucose alone decreased MMP-1 expression. Atorvastatin decreased expression of all assessed genes, except TIMP-1 and TIMP-3 in a dose-dependent manner. CONCLUSIONS: Our results confirm the importance of MMPs and TIMPs in retinal vascular biology. Atorvastatin-induced MMPs gene expression can deeply affect extracellular matrix turnover, which may play an important role in the progression of ocular diseases.


Asunto(s)
Células Epiteliales/efectos de los fármacos , Expresión Génica/efectos de los fármacos , Glucosa/farmacología , Ácidos Heptanoicos/farmacología , Fragmentos de Péptidos/farmacología , Pirroles/farmacología , Atorvastatina , Línea Celular , Elastina/química , Células Epiteliales/citología , Células Epiteliales/metabolismo , Humanos , Metaloproteinasa 1 de la Matriz/genética , Metaloproteinasa 1 de la Matriz/metabolismo , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 2 de la Matriz/metabolismo , Metaloproteinasa 9 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/metabolismo , Proteolisis , Epitelio Pigmentado de la Retina/citología , Epitelio Pigmentado de la Retina/efectos de los fármacos , Epitelio Pigmentado de la Retina/metabolismo , Inhibidor Tisular de Metaloproteinasa-1/genética , Inhibidor Tisular de Metaloproteinasa-1/metabolismo , Inhibidor Tisular de Metaloproteinasa-2/genética , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Inhibidor Tisular de Metaloproteinasa-3/genética , Inhibidor Tisular de Metaloproteinasa-3/metabolismo
11.
Dis Markers ; 2014: 507356, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24648608

RESUMEN

Oxidative stress is a major factor in the pathogenesis of age-related macular degeneration (AMD). Iron may catalyze the Fenton reaction resulting in overproduction of reactive oxygen species. Transferrin receptor 2 plays a critical role in iron homeostasis and variability in its gene may influence oxidative stress and AMD occurrence. To verify this hypothesis we assessed the association between polymorphisms of the TFR2 gene and AMD. A total of 493 AMD patients and 171 matched controls were genotyped for the two polymorphisms of the TFR2 gene: c.1892C>T (rs2075674) and c.-258+123T>C (rs4434553). We also assessed the modulation of some AMD risk factors by these polymorphisms. The CC and TT genotypes of the c.1892C>T were associated with AMD occurrence but the latter only in obese patients. The other polymorphism was not associated with AMD occurrence, but the CC genotype was correlated with an increasing AMD frequency in subjects with BMI < 26. The TT genotype and the T allele of this polymorphism decreased AMD occurrence in subjects above 72 years, whereas the TC genotype and the C allele increased occurrence of AMD in this group. The c.1892C>T and c.-258+123T>C polymorphisms of the TRF2 gene may be associated with AMD occurrence, either directly or by modulation of risk factors.


Asunto(s)
Atrofia Geográfica/genética , Polimorfismo de Nucleótido Simple , Receptores de Transferrina/genética , Degeneración Macular Húmeda/genética , Anciano , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo
12.
Pharmacol Rep ; 65(4): 884-90, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24145082

RESUMEN

BACKGROUND: Advanced glycation end products (AGEs) take part in the development of diabetic retinopathy. Hyperglycemia triggers an inflammatory response in the retina. These mechanisms may lead to an enhanced expression of adhesion molecules (ICAM-1 and VCAM-1) in human retinal pigment epithelium (HRPE). Glucagon-like peptide 1 (GLP-1) functions as an incretin hormone with antidiabetogenic properties. GLP-1 also possesses vasoprotective properties. METHODS: The aim of our study was to evaluate the influence of glycated albumin (GlyAlb; 100; 500 and 1000 mg/l) and pro-inflammatory cytokine, TNF-α (2.5 and 10 ng/ml), on expression of RAGE, ICAM-1 and VCAM-1 and to evaluate the influence of GLP-1 (100 nM) and its analogue, exendin-4 (10 nM), on the expression of RAGE, ICAM-1 and VCAM-1 in stimulated HRPE. RESULTS: TNF-α increased RAGE expression in HRPE cells. The addition of GlyAlb (500 and 1000 mg/l) resulted in a decrease of RAGE expression. Both TNF-α and GlyAlb increased the secretion of both adhesion molecules. In cells co-treated with GLP-1 or exendin-4 both incretins decreased RAGE expression in TNF-α treated cells, and in GlyAlb group. The ICAM-1 expression was lowered by exendin-4 and GLP-1 in cells stimulated by TNF-α and GlyAlb. The similar results were obtained for VCAM-1. All observed alterations were statistically significant. CONCLUSIONS: The obtained results indicate that both GLP-1 and exendin-4 by decreasing the expression of RAGE in HRPE can make these cells more resistant to circulating AGEs, and decreased expression of circulating VCAM-1 and ICAM-1, can be the result of anti-inflammatory properties of incretins and decreased expression of RAGE.


Asunto(s)
Péptido 1 Similar al Glucagón/farmacología , Molécula 1 de Adhesión Intercelular/metabolismo , Péptidos/farmacología , Receptores Inmunológicos/metabolismo , Epitelio Pigmentado de la Retina/metabolismo , Molécula 1 de Adhesión Celular Vascular/metabolismo , Ponzoñas/farmacología , Células Cultivadas , Relación Dosis-Respuesta a Droga , Exenatida , Productos Finales de Glicación Avanzada , Humanos , Receptor para Productos Finales de Glicación Avanzada , Albúmina Sérica/farmacología , Factor de Necrosis Tumoral alfa/farmacología , Albúmina Sérica Glicada
13.
Pol Arch Med Wewn ; 123(3): 98-104, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23303431

RESUMEN

INTRODUCTION: Diabetic macular edema (DME) is a common cause of visual acuity deterioration among patients with diabetes. Laser photocoagulation still remains the most common treatment of DME and diabetic retinopathy. OBJECTIVES: The aim of the study was to assess mean central retinal sensitivity among patients with DME before and after laser photocoagulation treatment. Additionally, we estimated the best-corrected visual acuity (BCVA) and retinal macular thickness before and after treatment. PATIENTS AND METHODS: The study included 30 patients (35 eyes with DME). The mean age was 61.9 ±4.8 years. Insulin was administered in 22 patients and oral antidiabetics in 8. Laser photocoagulation in the macular area was performed in all patients using the Pascal laser. We measured the BCVA, mean central retinal sensitivity, and retinal thickness in the macula (divided into 9 segments). The measurements were performed before and at 1, 3, and 6 months after laser treatment. Central retinal sensitivity was assessed with the MP-1 microperimeter and macular thickness with optical coherence tomography (Stratus OCT). RESULTS: The statistical analysis did not reveal significant differences between BCVA and central retinal sensitivity in the study group before and after laser treatment. The analysis of the mean central retinal thickness showed a significant decrease in macular edema in the individual segments at 1, 3, and 6 months after photocoagulation. CONCLUSIONS: Photocoagulation of DME with the Pascal laser did not cause significant changes either in the BCVA or central retinal sensitivity. Laser treatment in patients with DME significantly reduced central retinal edema in most segments.


Asunto(s)
Diabetes Mellitus Tipo 2/complicaciones , Retinopatía Diabética/terapia , Coagulación con Láser/efectos adversos , Edema Macular/terapia , Fotofobia/diagnóstico , Fotofobia/etiología , Anciano , Paquimetría Corneal , Retinopatía Diabética/cirugía , Femenino , Humanos , Edema Macular/etiología , Edema Macular/cirugía , Masculino , Persona de Mediana Edad , Fotofobia/fisiopatología , Tomografía de Coherencia Óptica , Agudeza Visual
14.
Exp Eye Res ; 106: 14-23, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23089144

RESUMEN

Age-related macular degeneration (AMD) is a degenerative disease of the eye, triggered by the damage of the macular cells. In the Western world it is the most frequent cause of blindness in the elderly. Oxidative stress is proved to play a key role in AMD pathogenesis and since iron accumulation has been found in AMD maculas, it may accelerate the oxidative processes in this tissue. In the present work we investigated the association between four polymorphisms of the transferrin gene (rs8177178; rs8177179; rs4481157; rs1130459) and AMD in dependence on the transferrin protein and iron serum levels. We employed PCR-RFLP (polymerase chain reaction - restriction fragment length polymorphism) for genotype determination, ELISA assay for serum transferrin evaluation and colorimetric assay for measurement of iron concentration in the serum. We found that advanced age and AMD family history may be independent risk factors for AMD (1.02, p < 0.05 and 8.88, p < 0.001, respectively). At the rs4481157 site The GG genotype of the rs4481157 polymorphism decreased the risk of dry AMD (OR 0.50; p < 0.05), while the GA increased this risk (OR 1.07; p < 0.05). Moreover, the GA genotype of this polymorphism decreased the risk of progression to the wet form (OR 0.63; p < 0.05). The analysis of the gene-environment interactions showed that the rs4481157 polymorphism modulates the AMD risk among obese (BMI above 30) individuals. In the former smokers group we observed a moderate association between rs4481157 polymorphism and AMD risk while this association in current smokers was stronger. We found also that the serum level of transferrin was higher in the AMD group (p < 0.001) than in the control, but the total serum iron levels did not differ between both groups. We found that the serum transferrin was associated with the rs8177178 (p < 0.001) and rs4481157 (p < 0.01) polymorphisms, and the common variant (GG) of both sites was related to a lower level of transferrin. Presented data may contribute to the involvement of iron homeostasis in AMD risk.


Asunto(s)
Degeneración Macular/sangre , Degeneración Macular/genética , Polimorfismo de Nucleótido Simple , Transferrina/genética , Anciano , Colorantes , Ensayo de Inmunoadsorción Enzimática , Femenino , Angiografía con Fluoresceína , Interacción Gen-Ambiente , Genotipo , Homeostasis , Humanos , Verde de Indocianina , Compuestos de Hierro/sangre , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Tomografía de Coherencia Óptica , Transferrina/metabolismo
15.
Graefes Arch Clin Exp Ophthalmol ; 250(7): 1057-65, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22371024

RESUMEN

BACKGROUND: Age-related macular degeneration (AMD) is an ocular disease affecting macula - the central part of the retina, resulting in the degeneration of photoreceptors and retinal epithelium and causing severe central vision impairment. The pathophysiology of the disease is not completely known, but a significant role is attributed to genetic factors. The contribution of oxidative stress in AMD as a trigger of the degenerative process is well-established. Iron ions may act as a source of reactive oxygen species; therefore, maintaining iron homeostasis is important for redox balance in the organism. Diversity in iron homeostasis genes may counterpart in unbalanced redox state, and thus be involved in AMD pathophysiology. METHODS: In this work, we searched for an association between some single nucleotide polymorphisms in the divalent metal transporter 1 (DMT1) gene intronic IVS4+44C>A (rs224589) and 3'-UTR c.2044T>C (rs2285230) and environmental factors and AMD. Genotyping was performed using the PCR-RFLP method. DNA was obtained from 436 AMD patients and 168 controls. RESULTS: We did not find any association between the genotypes of the two polymorphisms and AMD occurrence. However, we observed that AMD patients living in a rural environment and having the CC genotype of the IVS4+44C>A polymorphism had an increased risk of AMD, while individuals with the CA genotype or the A allele had a decreased risk of the disease. Moreover, in male AMD patients the C allele increased the risk of the disease, while the AA genotype decreased it. CONCLUSIONS: These results suggest that the VS4+44C>A polymorphism of the DMT1 gene may interact with place of living and gender to modulate the risk of AMD.


Asunto(s)
Proteínas de Transporte de Catión/genética , Atrofia Geográfica/genética , Polimorfismo de Nucleótido Simple , Degeneración Macular Húmeda/genética , Femenino , Angiografía con Fluoresceína , Interacción Gen-Ambiente , Genotipo , Atrofia Geográfica/diagnóstico , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Factores de Riesgo , Población Rural , Encuestas y Cuestionarios , Tomografía de Coherencia Óptica , Población Urbana , Degeneración Macular Húmeda/diagnóstico
16.
Med Sci Monit ; 18(2): CR51-57, 2012 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22293877

RESUMEN

BACKGROUND: Central serous chorioretinopathy (CSC) is a condition that originates from alterations of the choroidal circulation. The aim of this paper was to evaluate the use of indocyanine green angiography (ICGA) in patients with chronic CSC. MATERIAL/METHODS: The analysis included 17 patients (34 eyes) with chronic CSC in at least 1 eye. The eye examination included: distance and near visual acuity, biomicroscopy, applanation tonometry, fundus examination, colored and red-free fundus photography, evaluation of autofluorescence, optical coherence tomography, and fluorescein and indocyanine green angiography. RESULTS: In 34 eyes (100%) involved in the ICGA study the results revealed zones of transient increased choroidal vessels permeability. In 18 eyes (52.9%) choroidal changes were accompanied by a focal serous pigment epithelial detachment. In 4 eyes (11.8%) of 3 patients' the ICGA examination confirmed the presence of occult choroidal neovascularization (CNV). In the patient with bilateral diffuse retinal pigment epitheliopathy, CNV was present in 1 eye, in the patient with unilateral chronic CSC it was also present in 1 eye, and in the third patient with bilateral chronic CSC it was detected in both eyes. CONCLUSIONS: ICGA is a very useful examination that enables ophthalmologists to visualize choroidal changes due to chronic CSC, as well as to diagnose occult CNV in chronic CSC.


Asunto(s)
Angiografía , Coriorretinopatía Serosa Central/diagnóstico , Verde de Indocianina , Anciano , Coriorretinopatía Serosa Central/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tomografía de Coherencia Óptica , Tonometría Ocular , Agudeza Visual
17.
Mol Biol Rep ; 39(3): 2081-7, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21647550

RESUMEN

Iron may be implicated in the generation of oxidative stress by the catalyzing the Haber-Weiss or Fenton reaction. On the other hand, oxidative stress has been implicated in the pathogenesis of age-related macular degeneration (AMD) and heme oxygenase-1 (HO-1), encoded by the HMOX1 gene and heme oxygenase-2 (HO-2), encoded by the HMOX2 gene are important markers of iron-related oxidative stress and its consequences. Therefore, variability of the HMOX1 and HMOX2 genes might be implicated in the pathogenesis of AMD through the modulation of the cellular reaction to oxidative stress. In the present work, we investigated the association between AMD and a G → C transversion at the 19 position in the HMOX1 gene (the 19G>C-HMOX1 polymorphism, rs2071747) and a A → G transition at the -42 + 1444 position in the HMOX2 gene (the -42 + 1444A>G-HMOX2 polymorphism, rs2270363) and its modulation by some environmental factors. 279 patients with AMD and 105 controls were recruited in this study and the polymorphisms were typed by restriction fragment length polymorphism and allele-specific polymerase chain reaction (PCR). We observed an association between the occurrence of dry AMD and the G/A genotype of the -42 + 1444A>G-HMOX2 polymorphism (odds ratio (OR) 2.72), whereas the G/G genotype reduced the risk of dry AMD (OR 0.41). The G/C genotype and the C allele of the 19 G>C-HMOX1 polymorphism and the G/G genotype and the G allele of the -42 + 1444A>G-HMOX2 polymorphism were associated with progression of AMD from dry to wet form (OR 4.83, 5.20, 2.55, 1.69, respectively). On the other hand, the G/G genotype and the G allele of the 19 G>C-HMOX1 polymorphism and the A/G genotype and the A allele of the -42 + 1444A>G-HMOX2 polymorphism protected against AMD progression (OR 0.19, 0.19, 0.34, 0.59, respectively). Therefore, the 19G>C-HMOX1 and the -42 + 1444A>G-HMOX2 polymorphisms may be associated with the occurrence and progression of AMD.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Hemo Oxigenasa (Desciclizante)/genética , Hemo-Oxigenasa 1/genética , Degeneración Macular/genética , Polimorfismo de Nucleótido Simple/genética , Estudios de Asociación Genética , Genotipo , Humanos , Modelos Logísticos , Degeneración Macular/fisiopatología , Oportunidad Relativa , Polonia , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción
18.
Med Sci Monit ; 18(1): PI1-4, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22207126

RESUMEN

BACKGROUND: The expectations of post-removal cataract surgery patients are extremely high, and best vision acuity is expected. The best refractive results are influenced by two factors - cataract surgical removal and the corneal astigmatism correction. Currently, the two most often applied corneal astigmatism removal methods are laser surgery and toric intraocular lens implantation, with the latter method being both more stable and more reversible. This study aimed to estimate the surgical astigmatism correction efficiency after AcrySof Toric intraocular lens implantation in patients with corneal astigmatism. MATERIAL/METHODS: We used the AcrySof Toric IOL 1-part hydrophobic acrylic lenses. The retrospective research covered 30 eyeballs in 28 cataract and corneal astigmatism patients, with the AcrySof Toric lens implanted by one surgeon. RESULTS: In our test group 92.31% of post-surgical patients (phacoemulsification and toric lenses implantation) gained the best uncorrected visual acuity, range 0.6-1.0; and in 7.69% of patients the acuity was 0.4-0.6. Lens rotation was examined three weeks after the surgical procedure and a 3.24 ± 3.41 degree axial displacement was observed; however, this lens rotation was clinically unimportant. Based on the analysis of post-surgical results, the corneal astigmatism was 84.2% lower than before the procedure. CONCLUSIONS: We noticed clinically and statistically important vision acuity improvement in the corneal astigmatism patients. The patients' high satisfaction was conditioned by proper pre-surgery qualification. Astigmatism correction by cataract removal surgery is a safe and effective surgical solution. In the future, we expect the use of toric intraocular lenses will become widespread and significant.


Asunto(s)
Astigmatismo/cirugía , Implantación de Lentes Intraoculares/métodos , Lentes Intraoculares , Humanos , Estudios Retrospectivos , Resultado del Tratamiento , Agudeza Visual/fisiología
19.
Med Sci Monit ; 17(6): CS70-4, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21629193

RESUMEN

BACKGROUND: Perioperative optic neuropathy is a disease which can lead to serious, irreversible damage of vision. This complication could be the result of non-ocular surgery, for example, cardiac or spinal procedures. We present a case of anterior ischemic neuropathy (AION) which occurred following a conventional coronary artery bypass graft procedure. CASE REPORT: A 57-year-old man, 4 days after Conventional Coronary Artery Bypass Graft surgery as result of multi-vessel stabile coronary artery disease and history of anterolateral wall myocardial infarction, was admitted to the Eye Clinic due to significant loss of vision in his right eye. The patient had hypertension and was a heavy smoker. On admission, the slit lamp examination revealed a relative afferent pupillary defect in the right eye. The fundus examination showed optic disc edema with the presence of flame hemorrhages. Best corrected visual acuity (BCVA) was 0.02. The results of eye examination and fluorescein angiography confirmed the diagnosis of AION. Anti-aggregation and antithrombotic treatment was continued with steroids and vasodilators. After 7 days of this treatment we noticed the improvement of BCVA to 0.2. At 6-month follow-up, the vision was stable, and fundus examination revealed optic disc atrophy. CONCLUSIONS: After cardiac surgical operations, such as coronary artery bypass graft procedures, anterior ischemic optic neuropathy may occur. In those cases, close cooperation between the various specialists is necessary.


Asunto(s)
Puente de Arteria Coronaria/efectos adversos , Neuropatía Óptica Isquémica/etiología , Ojo/irrigación sanguínea , Ojo/diagnóstico por imagen , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Neuropatía Óptica Isquémica/diagnóstico por imagen , Radiografía
20.
Med Sci Monit ; 17(5): CS60-2, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21525817

RESUMEN

BACKGROUND: The aim of this study was to report on epithelial posttraumatic iris cyst that was successfully treated with needle aspiration and surgical excision with surrounding iris tissue. CASE REPORT: A 30-year-old women was treated for a large fluid-filled cyst in the anterior chamber of the left eye; 25 years before, she had an open globe injury. She observed deterioration of her visual acuity 1 year before her visit to our clinic. During ophthalmological examination, an iris cyst was diagnosed. As a result, she had Nd: YAG laser puncture of the cyst in the left eye, performed 5 months before she came to our clinic. After a short time of decompression, the cyst rapidly grew in size (2/3 of the anterior chamber), and her visual acuity was getting worse due to an aggressive growth of the iris cyst. Visual acuity was 0.06. Needle aspiration with surgical excision of the cyst with surrounding iris tissue was performed. Histopathologic examination confirmed an epithelial cyst. At the 1-year follow-up, there was no evidence of recurrence of the iris cyst, and BCVA was 0.2. CONCLUSIONS: This case report provides evidence that needle aspiration with surgical excision of iris cyst seems to be an effective treatment method of this complication.


Asunto(s)
Quistes/cirugía , Epitelio/patología , Enfermedades del Iris/patología , Enfermedades del Iris/cirugía , Iris/patología , Iris/cirugía , Heridas y Lesiones/complicaciones , Adulto , Biopsia con Aguja Fina , Preescolar , Quistes/etiología , Quistes/patología , Epitelio/cirugía , Femenino , Humanos , Heridas y Lesiones/cirugía
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