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1.
Cureus ; 16(2): e54121, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38487148

RESUMEN

We conducted a systematic review and meta-analysis to assess the association between optical coherence tomography angiography (OCTA) parameters and acute coronary syndrome (ACS). Two independent reviewers searched the electronic databases (MEDLINE (Medical Literature Analysis and Retrieval System Online), Scopus, Embase (Excerpta Medica Database), Cochrane Library, ClinicalTrials.gov, and World Health Organization International Clinical Trials Registry Platform) from inception until April 2023. According to the inclusion criteria of this review, eligible were observational studies, randomized control trials, and registry/database studies that included the eyes of adult ACS patients and assessed OCTA parameters within the macula. The pooled standardized mean differences (SMD) between patients diagnosed with ACS and healthy controls with a confidence interval (CI) of 95% were calculated using the Hartung-Knapp-Sidik-Jonkman random-effects method. The heterogeneity was assessed by I2 and the Cochran Q and a random effects model was applied. Seven studies were eligible and included in our systematic review (n = 898), of which three were included in the meta-analysis (n = 341). The pooled SMD in the superficial vascular plexus (SVP), deep vascular plexus (DVP), and foveal avascular zone (FAZ) were -0.46 (95% CI: -0.94 to 0.01, p = 0.05, I2 = 0%, three studies), -0.10 (95% CI: -3.20 to 3.00, p = 0.75, I2 = 67%, two studies), and 0.43 (95% CI: -1.22 to 2.09, p = 0.38, I2 = 92%, three studies), respectively. Our findings suggest that there are no differences in OCTA metrics between ACS patients and healthy individuals.

2.
Transl Vis Sci Technol ; 12(5): 8, 2023 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-37145590

RESUMEN

Purpose: To investigate the morphological and functional correlation between microvascular retinal changes in optical coherence tomography angiography (OCTA) and the microvascular coronary circulation in patients with ST elevation myocardial infarction (STEMI) coronary heart disease (CHD). Methods: A total of 330 eyes from 165 participants (88 cases and 77 controls) were enrolled and imaged. Superficial capillary plexus (SCP) and deep capillary plexus (DCP) vascular density was measured in the central (1 mm) and perifoveal (1-3 mm) areas and in the superficial foveal avascular zone (FAZ) and choriocapillaris (3 mm). These parameters were then correlated to the left ventricular ejection fraction (LVEF), and the number of affected coronary arteries. Results: Decreased vessel densities in the SCP and DCP and choriocapillaris were positively correlated to the LVEF values (P = 0.006, P = 0.026, and P = 0.002, respectively). No statistically significant correlation between the SCP and DCP central area or FAZ area was found. Regarding the number of affected vessels, significant negative correlations were revealed for the SCP and DCP central vessel densities (P < 0.001 and P < 0.001, respectively) and the SCP perifoveal vascular density (P = 0.009). Conclusions: OCTA vascular indices are significantly correlated with morphological and functional parameters in patients with STEMI CHD. SCP vascular density especially seems to be a promising biomarker for the extent of both macrovascular damage (number of affected coronary arteries) and microvascular damage, as mirrored in the decreased LVEF at admission. Translational Relevance: OCTA vascular indices offer a valuable insight into the microvascular status of coronary circulation.


Asunto(s)
Infarto del Miocardio con Elevación del ST , Humanos , Infarto del Miocardio con Elevación del ST/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagen , Angiografía con Fluoresceína/métodos , Volumen Sistólico , Fondo de Ojo , Función Ventricular Izquierda
3.
Ophthalmic Res ; 65(6): 637-646, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35738245

RESUMEN

Multiple lines of evidence support an immunologic response along with inflammation to be implicated in the pathophysiology of primary rhegmatogenous retinal detachment (RRD) and the development of proliferative vitreoretinopathy (PVR). The purpose of this review is to provide an update on the signaling molecules in the vitreous and subretinal fluid (SRF) involved in these processes. A detailed literature search was performed in PubMed database until November 2021. We identified all papers referring to inflammatory and immunological mediators in the context of primary RRD and in cases complicated by PVR. We analyzed prospective and retrospective cohort studies and reference lists of the retrieved articles. A comprehensive investigation of immunological and inflammatory responses provides significant evidence for the implication of varying signaling molecules in the pathophysiology of RRD and the development of PVR. The reviewed series has revealed that disruption of the normal equilibrium during these processes may be present in the vitreous and SRF of these eyes. The precise role of cytokines, chemokines, and growth factors in the pathophysiology of these disorders remains to be clearly elucidated. Overall, immunological and inflammatory signaling molecules are widely implicated in both primary RRD and PVR. The reviewed literature indicates that precise knowledge concerning the pathological milieu sheds light on the underlying pathophysiology and potential therapeutic targets and highlights unmet needs to be addressed by future research.


Asunto(s)
Desprendimiento de Retina , Humanos , Estudios Prospectivos , Estudios Retrospectivos
4.
Eur J Ophthalmol ; 32(1): 347-355, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33781111

RESUMEN

PURPOSE: To assess fibrovascular pigment epithelial detachments (PED) and their response to two different anti-VEGF agents using optical coherence tomography (OCT) morphometric analysis. METHODS: Seventy-three consecutive, treatment-naïve eyes with fibrovascular PED (>125 µm) treated with ranibizumab or aflibercept were retrospectively included. A custom-made software was used to manually segment and calculate PED maximum height, base area, volume and internal reflectivity at baseline, after three injections and 1 year. RESULTS: Visual acuity (VA) change was 2 ETDRS letters ± 7.6 after three injections and 3.2 ETDRS letters ± 10.3 at 1 year. There was no significant difference between VA changes amongst the two drugs. At 1 year, anti-VEGF treatment resulted in a mean reduction of 125 µm in maximum PED height, of 2.26 mm2 in base area and of 0.54 mm3 in volume with a corresponding increase in reflectivity. These changes were more prominent in the aflilbercept group. The observed PED and VA changes at year 1 were strongly correlated with their values at baseline and after three injections. CONCLUSIONS: Anti-VEGF treatment resulted in a reduction of all PED dimensions and a corresponding increase in optical reflectivity. Higher, larger and more hypo-reflective PEDs demonstrated a better anatomical response, especially with aflibercept, but this was not correlated with VA.


Asunto(s)
Inhibidores de la Angiogénesis , Ranibizumab , Receptores de Factores de Crecimiento Endotelial Vascular/uso terapéutico , Desprendimiento de Retina/tratamiento farmacológico , Epitelio Pigmentado de la Retina , Inhibidores de la Angiogénesis/uso terapéutico , Humanos , Inyecciones Intravítreas , Ranibizumab/uso terapéutico , Proteínas Recombinantes de Fusión/uso terapéutico , Epitelio Pigmentado de la Retina/patología , Estudios Retrospectivos , Tomografía de Coherencia Óptica
5.
Cureus ; 13(8): e17138, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34408962

RESUMEN

Purpose To investigate any possible relationship between the central corneal thickness and the radial peripapillary capillary density detected by optical coherence tomography (OCT) angiography in eyes with ocular hypertension. Materials and methods In this observational study, 135 eyes were examined. OCT angiography of the optic disc (4.5 mm) and ultrasound corneal pachymetry were performed in all cases. Age, medical treatment for ocular hypertension, sex, and retinal nerve fiber layer thickness were evaluated. The main indices of blood flow were also examined. Spearman correlation coefficients were used to explore the association between two continuous variables. Results A directly proportional significance regarding the correlation between central corneal thickness and radial peripapillary network was indicated in eyes with ocular hypertension (p = .036). Conclusions Central corneal thickness and radial peripapillary capillary density constitute two essential screening parameters for patients with ocular hypertension.

6.
Ophthalmol Ther ; 9(4): 739-756, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32809132

RESUMEN

Retinal pigment epithelial detachment is defined as a separation of the retinal pigment epithelium from the inner collagenous layer of Bruch's membrane. It is a common manifestation in both dry and wet types of age-related macular degeneration. This review aims to provide a comprehensive guide to the pathophysiology, clinical and imaging characteristics, natural course and treatment of the various types of pigment epithelial detachments in order to assist in diagnosis and management of this important feature of age-related macular degeneration.

7.
Case Rep Ophthalmol ; 10(2): 200-204, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31692601

RESUMEN

INTRODUCTION: To demonstrate, with the aid of retinal imaging, an abnormal post-operative macular appearance caused by the presence of a "fragmented" pre-retinal bubble of octafluoropropane (C3F8) masquerading as retained subretinal perfluorocarbon liquid (PFCL). METHODS: This is an interventional case presentation. RESULTS: Colour fundus photography high-resolution spectral domain-optical coherence tomography (SD-OCT) and clinical progress demonstrate that the abnormal reflex was caused by the presence of a small fragment of C3F8 becoming lodged at the pre-foveal area. CONCLUSION: Submacular entrapment of various substances used during vitrectomy has been described in a number of case reports and case series. To our knowledge, this is the first described case of a retained fragment of fluorocarbon gas trapped at the macula following successful retinal detachment repair and highlights a previously unreported cause of an abnormal foveal appearance. However, clinical examination together with the use of SD-OCT is helpful in differentiating the appearance from that seen in other retained vitrectomy adjuncts.

8.
EMBnet J ; 242019.
Artículo en Inglés | MEDLINE | ID: mdl-31218211

RESUMEN

CADASIL syndrome is a rare disease that belongs to a group of disorders called leukodystrophies. It is well established that NOTCH3 gene on chromosome 19 is primarily responsible for the development of the CADASIL syndrome. Herein, an attempt is made to shed light on the actual molecular mechanism underlying CADASIL syndrome, through insights extracted from comprehensive evolutionary studies and in silico modelling on Notch 3 protein. In particular, we suggest the use of optical coherence tomography angiography for the detection of early signs of small vessel diseases, which are the major precursors to a repertoire of neurodegenerative conditions, including CADASIL.

9.
Int Ophthalmol ; 39(1): 213-217, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29582258

RESUMEN

BACKGROUND: To report midterm outcomes of strabismus strategy for management of diplopia in chronic progressive external ophthalmoplegia and specific surgical planning rationale. DESIGN: Retrospective interventional case series. RESULTS: Two patients, a 26-year-old male and a 36-year-old female, diagnosed with chronic progressive external ophthalmoplegia presented with blepharoptosis and intermittent diplopia. Ocular motility examination was significant for bilateral profound impairment of adduction with relative preservation of abduction, infraduction and elevation. Control of intermittent exotropia gradually worsened over 3 and 1.5 years of follow-up, respectively, in the presence of documented stability of the angle of exodeviation. Strabismus surgery involving modest amounts of bilateral medial rectus resection and lateral rectus recessions was undertaken. Surgical intervention was successful in controlling alignment in primary position and alleviating diplopia and asthenopia after 9 and 8 years of follow-up time, respectively, despite slow progression of ophthalmoplegia. CONCLUSION: Bilateral selective impairment of adduction and intermittent exotropia may be the presenting ocular motility disturbance in chronic progressive external ophthalmoplegia. Properly designed strabismus surgery may provide sustainable, in the midterm, control of alignment and symptomatic relief in selected patients with CPEO.


Asunto(s)
Diplopía/cirugía , Movimientos Oculares/fisiología , Músculos Oculomotores/cirugía , Oftalmoplejía Externa Progresiva Crónica/cirugía , Refracción Ocular/fisiología , Estrabismo/cirugía , Agudeza Visual , Adulto , Diplopía/etiología , Diplopía/fisiopatología , Femenino , Humanos , Masculino , Músculos Oculomotores/fisiopatología , Oftalmoplejía Externa Progresiva Crónica/complicaciones , Oftalmoplejía Externa Progresiva Crónica/fisiopatología , Estudios Retrospectivos , Estrabismo/complicaciones , Estrabismo/fisiopatología
10.
Clin Ophthalmol ; 12: 2597-2606, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30587906

RESUMEN

PURPOSE: To present a home-based visual field examination method using a PC monitor or virtual reality glasses and evaluate the reliability of the method by comparing the results with those of the Humphrey perimeter, in order to assess the possibility of glaucoma screening through the Internet. MATERIALS AND METHODS: Software implementing a supra-threshold algorithm for the central 24° (52 points) of visual field at three threshold levels: 1) -4 db, 2) -8 db, and 3) -12 db, from the age-expected sensitivity was used for the purpose of testing. The software uses the web camera as a "virtual photometer" in order to detect room luminosity and allows self-testing using a computer monitor or virtual reality glasses using an Android smartphone with a 6-inch display. The software includes an expert system to analyze the visual field image and validate the reliability of the results. It also allows the physician to combine the results from two or more tests into a single test in order to achieve higher statistical accuracy of the final result. A total of ten patients, 20 eyes tested×52 points per eye=1,040 visual field test points, were compared point to point to those obtained using the Humphrey perimeter for the same patients, as they appeared randomly and consecutively at the glaucoma department within hours. RESULTS: Good receiver operating characteristic/area under the curve coefficient was found, ranging from 0.762 to 0.837 (P<0.001). Sensitivity ranged from 0.637 to 0.942, and specificity ranged from 0.735 to 0.497. CONCLUSION: The home-based visual field test exhibits a reasonable receiver operating characteristic curve when compared to the Humphrey perimeter, without the need of specialized equipment. The test may be useful for glaucoma screening.

11.
Cell Tissue Bank ; 19(4): 637-644, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30056603

RESUMEN

To evaluate the efficacy and outcomes of tectonic epikeratoplasty with use of ethanol-preserved corneal grafts for the management of perforated corneal melts. The present retrospective case series includes 10 eyes which underwent tectonic epikeratoplasty for perforated corneal melts. The stromal remainders of Descemet membrane endothelial keratoplasty (DMEK) and Descemet stripping automated endothelial keratoplasty (DSAEK) graft preparation were stored in 95% ethanol and used as emergency tectonic grafts for restoring globe integrity after sterile and infectious perforated corneal melts. In 6 cases with subtotal corneal melt, DMEK remainders (endothelium-denuded corneoscleral buttons) were used for 'limbus to limbus' tectonic epikeratoplasty and in 4 cases DSAEK remainders (anterior stroma) were used to seal focal perforated melts. Graft storage time was 5.1 ± 4.9 (ranging from 0.5 to 17) months. The surgeries were successful in all cases with restitution of the globe integrity. During the postoperative course 4 cases developed a graft melt (corneoscleral button for limbus to limbus tectonic epikeratoplasty, n = 3; lamellar patch, n = 1) within 2-6 months after the initial procedure. Three patients underwent successful repeat tectonic epikeratoplasty. In the fourth case of graft melt the globe was enucleated due to underlying expulsive haemorrhage and severe pain. The short-term results of the present case series suggest that the use of ethanol-stored stromal remainder of donor corneas after endothelial keratoplasty is an efficient temporary measure for tectonic restoration of perforated corneas.


Asunto(s)
Córnea/cirugía , Epiqueratofaquia , Etanol/química , Donantes de Tejidos , Adulto , Anciano , Femenino , Supervivencia de Injerto , Humanos , Masculino , Persona de Mediana Edad
13.
J Ultrasound ; 21(2): 159-163, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29500812

RESUMEN

PURPOSE: To report the case of a 65-year-old metalworker with no known history of ocular trauma, who suffered from intense ocular pain during magnetic resonance imaging (MRI) of the brain, due to a retained intraocular metallic foreign body (IOFB). CASE REPORT: Meticulous ophthalmological examination was inconclusive. An IOFB was confirmed with X-ray scan, whereas its exact localization was enabled by means of ultrasonography and ultrasound biomicroscopy (UBM). CONCLUSIONS: Despite appropriate screening protocols, MRI-related ocular complications might occur in the presence of a hidden metallic IOFB. Clinical detection of ocular foreign bodies can sometimes be challenging. Ultrasonography and UBM are valuable adjuncts for the accurate localization, especially of small or hidden particles.


Asunto(s)
Cuerpos Extraños en el Ojo/complicaciones , Cuerpos Extraños en el Ojo/diagnóstico por imagen , Dolor Ocular/etiología , Imagen por Resonancia Magnética , Dolor Asociado a Procedimientos Médicos/etiología , Ultrasonografía/métodos , Anciano , Diagnóstico Diferencial , Manejo de la Enfermedad , Humanos , Masculino , Microscopía Acústica/métodos , Enfermedades Profesionales/complicaciones , Enfermedades Profesionales/diagnóstico por imagen
14.
Semin Ophthalmol ; 33(4): 498-505, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-28488915

RESUMEN

PURPOSE: To outline the short- and long-term motor outcomes of unilateral medial rectus muscle recession and lateral rectus muscle resection for the correction of moderate angle infantile esotropia. METHODS: A retrospective study of 109 consecutive patients with moderate angle infantile esotropia treated with graded unilateral recession-resection surgery. Criteria for successful motor outcome included alignment ±10Δ from orthophoria. Outcome evaluation was a comparison of successful alignment versus an overcorrection or undercorrection at eight weeks postoperatively as well as on the final follow-up examination. RESULTS: The mean preoperative deviation was 35.5 prism diopters (Δ) and mean follow-up time was 4.9 years. At the eight-week postoperative examination, 99 patients (89.9%) were successfully aligned, as opposed to 75 of 95 patients (78.9%) at the final postoperative visit (P=0.041). There was no statistically significant difference between the rate of early versus late undercorrections (7.3% versus 12.5%, P=0.267) or overcorrections (2.7% versus 8.3%, P=0.125). Ten patients had an esotropic drift over time and 10 patients had an exotropic drift. Recurrent esotropia was associated with high hyperopia and presumed infantile esotropia diagnostic entity. The Kaplan-Meier estimate of survivorship of a successful motor outcome was 75.5% at five years and 71% at 15 years postoperatively. The mean response to surgery was 2.9Δ per mm of muscle recessed and resected and was positively related to the preoperative angle of deviation (R=0.615). CONCLUSIONS: The unilateral recession-resection procedure for the correction of infantile esotropia is shown to be associated with a favorable survival of motor outcomes and a relatively balanced rate of undercorrections versus overcorrections tending to be maintained through the follow-up period.


Asunto(s)
Esotropía/cirugía , Movimientos Oculares/fisiología , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/métodos , Visión Binocular/fisiología , Niño , Preescolar , Esotropía/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Músculos Oculomotores/fisiopatología , Periodo Posoperatorio , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento
15.
Int Ophthalmol ; 38(2): 849-854, 2018 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28421398

RESUMEN

PURPOSE: To describe a technique for intracorneal application of voriconazole into the supradescemetic space in a case of deep recalcitrant Candida parapsilosis keratitis of a penetrating cornea graft. METHODS: A deep intracorneal incision reaching the center of the corneal infiltrate was created with a 20-gauge MVR blade. Then, a 27-gauge hydrodissection cannula was inserted deep into the corneal pocket, and 0.1 ml of voriconazole 0.5 mg/ml was injected until a bullous detachment of Descemet membrane (DM) covered 1/3 of the graft's area. DM detachment was documented by anterior segment optical coherence tomography (AS-OCT). RESULTS: AS-OCT confirmed the creation of a drug depot in the supradescemetic space, which partially regressed during the following hours; 24 h after the injection, a complete reattachment of DM was documented. After 4 weeks, the stromal infiltrate has cleared completely and no signs of recurrence were observed 3 months after injection. CONCLUSION: In the present case, the supradescemetic voriconazole injection led to resolution of a deep recalcitrant fungal infiltrate. The herein described technique could be tried in similar cases, where an intrastromal injection is indicated, as it may offer a larger intracorneal drug depot.


Asunto(s)
Antifúngicos/administración & dosificación , Candida parapsilosis/aislamiento & purificación , Infecciones Fúngicas del Ojo/tratamiento farmacológico , Queratitis/tratamiento farmacológico , Voriconazol/administración & dosificación , Anciano de 80 o más Años , Infecciones Fúngicas del Ojo/microbiología , Humanos , Inyecciones Intraoculares , Queratitis/microbiología , Masculino , Resultado del Tratamiento
16.
Int Ophthalmol ; 38(6): 2349-2356, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29063455

RESUMEN

PURPOSE: To describe a new technique of Ahmed glaucoma valve implantation in patients with refractory glaucoma and present the long-term results. METHODS: Twenty-eight eyes of 28 patients with refractory glaucoma participated in the study. "Double scleral tunnel in tandem" technique was used for glaucoma valve implantation in all patients. The technique consists of the formation of two scleral tunnels in tandem so as to completely cover the extraocular part of valve's tube and facilitate a parallel to the iris placement of the intraocular part of the tube. RESULTS: Postoperative hypotony developed in two (7.1%) cases which resolved within 3 days in all cases. One (3.6%) eye manifested postoperative hyphema that resolved without complications within a week, and two (7.1%) cases presented with exposure of the tube. The average highest postoperative intraocular pressure (IOP) during the follow-up period was 19 mmHg (range 8-38 mmHg) without medications, and the average IOP at the last follow-up visit was 14.5 mmHg (range 8-22 mmHg). Additional treatment for IOP control was necessary in 11 (39.3%) cases. The average follow-up period was 60 months. CONCLUSION: This novel technique was found to be easy to master, effective and with low cost and rate of complications.


Asunto(s)
Implantes de Drenaje de Glaucoma , Glaucoma/cirugía , Implantación de Prótesis/métodos , Esclerótica/cirugía , Colgajos Quirúrgicos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Drenaje , Femenino , Estudios de Seguimiento , Glaucoma/fisiopatología , Humanos , Presión Intraocular/fisiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tonometría Ocular , Agudeza Visual/fisiología
17.
Surv Ophthalmol ; 63(3): 347-364, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-28882598

RESUMEN

Iris cysts, both primary and secondary, are a diagnostic and treatment challenge. Primary cysts arise either from the iris pigment epithelium or the iris stroma. Posterior pigment epithelial cysts are subdivided according to their location as central, midzonal, and peripheral. Iris stromal cysts are classified either as congenital or acquired. Free-floating cysts are usually dislodged pigment epithelial cysts. Secondary cysts are classified according to the underlying cause as implantation cysts, drug-induced, uveitic, tumor-induced, parasitic, or as cysts associated with systemic disorders. Differential diagnosis is based on the clinical presentation and imaging. Ultrasound biomicroscopy is the gold standard for the imaging of iris cysts, combining excellent resolution with sufficient tissue penetration. Treatment of iris cysts depends largely on whether they become symptomatic or not. Symptoms include obstruction of the visual axis, corneal decompensation, secondary uveitis, and secondary glaucoma. Treatment options cover a range from simple observation to fine-needle aspiration (with or without intracystic injection of absolute alcohol or antimitotic agents), laser (argon, Nd:YAG), or surgical excision. In the past, the prevailing notion was that of a radical surgical intervention in the form of iridectomy or iridocyclectomy. Given the high rate of recurrence, a stepwise conservative approach is currently favored by most clinicians.


Asunto(s)
Quistes/diagnóstico , Quistes/terapia , Enfermedades del Iris/diagnóstico , Enfermedades del Iris/terapia , Quistes/clasificación , Diagnóstico Diferencial , Técnicas de Diagnóstico Oftalmológico , Humanos , Enfermedades del Iris/clasificación , Epitelio Pigmentado Ocular/patología
18.
Anticancer Res ; 37(10): 5719-5726, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28982892

RESUMEN

BACKGROUND/AIM: Uveal melanoma is the most common primary adult intraocular malignancy. It is known to have a strong metastatic potential, fatal for the vast majority of patients. In recent years, meticulous cytogenetic and molecular profiling has led to precise prognostication, that unfortunately is not matched by advancements in adjuvant therapies. G Protein subunits alpha Q (GNAQ) and alpha 11 (GNA11) are two of the major driver genes that contribute to the development of uveal melanoma. Understanding their prognostic significance can allow tailored management and facilitate their use in the on-going quest of targeted uveal melanoma therapies. MATERIALS AND METHODS: Formalin-fixed, paraffin-embedded specimens were obtained from 47 patients of Greek origin, with uveal melanoma. GNAQ and GNA11 genes were screened for mutations in exons 4 and 5, by polymerase chain reaction and Sanger sequencing. RESULTS: The overall mutation frequency of GNAQ/GNA11 genes was 42.4%. A novel mutation c.625_626delinsGC was identified in GNA11. No correlation was observed between the mutation status and metastasis occurrence or overall survival time of patients. CONCLUSION: Mutations in GNAQ and GNA11 genes in this Greek population present frequencies that qualify them as potential targets for customized therapy.


Asunto(s)
Biomarcadores de Tumor/genética , Subunidades alfa de la Proteína de Unión al GTP Gq-G11/genética , Subunidades alfa de la Proteína de Unión al GTP/genética , Mutación , Neoplasias de la Úvea/genética , Adulto , Anciano , Anciano de 80 o más Años , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Grecia , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Tasa de Mutación , Fenotipo , Pronóstico , Factores de Riesgo , Factores de Tiempo , Neoplasias de la Úvea/mortalidad , Neoplasias de la Úvea/patología , Neoplasias de la Úvea/terapia
19.
Case Rep Ophthalmol ; 8(3): 459-464, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29033824

RESUMEN

PURPOSE: We present the evolution of X-linked juvenile retinoschisis (XLRS) in a male patient using optical coherence tomography (OCT) with a long-term follow-up time of 15 years. CASE DESCRIPTION: A 10-year-old male patient presented at the Medical Retina Department of our hospital complaining for blurred vision in both eyes. At the initial presentation in 2001, his best corrected visual acuity (BCVA) was 6/12 in both eyes on the Snellen chart. Based on clinical and OCT findings, the diagnosis of XLRS was made, and it was confirmed by genetic testing. No treatment was performed, but the patient was regularly examined. His BCVA and OCT findings remained relatively stable from 2001 to 2012, when BCVA decreased to 6/18 and 6/24 in the right and left eye, respectively. In 2016, his BCVA was 6/24 and 6/36 in right and left eye, respectively, while OCT depicted significant macular thinning, accompanied by irregularities of the foveal contour in both eyes. CONCLUSION: Patients with XLRS should be monitored regularly to evaluate the progression of the disease and manage the potential complications.

20.
Ophthalmic Res ; 58(4): 227-230, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28877516

RESUMEN

PURPOSE: The purpose of this study was to investigate the potential association between rhegmatogenous retinal detachment (RRD) and BAX and BCL2 polymorphisms. METHODS: This is a case control study of 99 patients with RRD and 120 healthy control subjects of Greek origin, surveyed for BAX and BCL2 polymorphisms (rs2279115 and rs4645878) and a potential correlation to RRD. RESULTS: The rs4645878 AA genotype was found to be significantly associated with RRD (p = 0.003; OR: 6.89, 95% CI: 1.76-26.93), while the rs2279115 CC genotype as well as the C allele was not found in patients with RRD. CONCLUSIONS: This is the first study evaluating the potential relationship between BCL2 and BAX gene polymorphisms and RRD in a Greek population, showing a significant association between BAX rs4645878 polymorphism and RRD susceptibility. This finding suggests that an apoptotic mechanism is implicated in the pathogenesis of RRD.


Asunto(s)
ADN/genética , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas c-bcl-2/genética , Desprendimiento de Retina/genética , Proteína X Asociada a bcl-2/genética , Anciano , Alelos , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Proteínas Proto-Oncogénicas c-bcl-2/metabolismo , Desprendimiento de Retina/metabolismo , Proteína X Asociada a bcl-2/metabolismo
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