Neuropatía óptica hereditaria de Leber: ¿de qué perspectivas terapéuticas disponemos? / Leber hereditary optic neuropathy: what are the therapeutic perspectives?

No disponible

Transscleral resection without hypotensive anaesthesia vs iodine-125 plaque brachytherapy in the treatment of choroidal melanoma.

AimsThe aim of this study was to compare transscleral resection technique performed without hypotensive anaesthesia (TSRWH) with iodine-125 brachytherapy (IBT) in the treatment of choroidal melanoma.Patients and methodsThis was a retrospective surgical cohort study. Nineteen eyes treated with TSRWH were matched with 53 eyes treated with IBT according to: tumour size, distance to fovea, distance to optic nerve, and follow-up time. Best-corrected visual acuity (BCVA), local recurrence, secondary enucleation, metastasis, overall and specific survival, and complications were evaluated.ResultsPatients treated with TSRWH had significantly better BCVA than those treated with IBT. The local recurrence risk was significantly higher when ciliary body was involved (HR=11.4, 95% CI 2.24-49.7, P=0.04). Metastatic disease was observed in 14 of 53 patients (26.4%) in the IBT group vs 3 patients (15.8%) in the TSRWH group (P=0.531). Multivariate analysis showed that iris involvement (HR=16.0, 95% CI 4.2-170.2, P=0.033) and large tumour (HR=2.3, 95% CI 1.2-4.8, P=0.04) increased the probability of metastasis. During follow-up, six patients (11.3%) in IBT group died vs two (10.5%) in the TSRWH group (P≥0.999). Nine patients required secondary enucleation: 5 (9.4%) in the IBT group vs 4 (21.1%) in the TSRWH group (P=0.231). The most common complications in IBT group were radiation-induced retinopathy (45.3%), neovascular glaucoma (28.3%), and macular oedema (24.5%), whereas rhegmatogenous retinal detachment (21.1%), ocular hypertension (21.1%), and submacular haemorrhage (15.8%) were the most frequent complications after TSRWH.ConclusionTSRWH is a technically challenging procedure. However, when performed successfully, this technique achieves better preservation of visual acuity than IBT and without the limitations inherent in hypotensive anaesthesia.

Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease.

Gaucher disease induces some metabolic abnormalities so increased serum ferritin appears in more than 60% at diagnosis. The storage of glucosylceramide in macrophages produces an inflammatory response with iron recycling deregulation and release of cytokines. Iron homeostasis is controlled by the circulating peptide hepcidin and its production is influenced by inflammatory cytokines. Iron damages cells by excess of catalyzing reactive oxygen species, removal of the excess iron has a positive influence on the response to treatment and survival in patients with iron overload. We have analyzed some inflammatory biomarkers of macrophage activation and related to the iron profile, including hepcidin and liver iron deposits determined by MRI, in 8 type 1 GD patients with hyperferritinemia. We have explored the changes in this profile after 4 months under therapy with two different iron chelators, deferoxamine or deferasirox, by evaluating response, adverse events and quality of life. We observed a significant reduction in serum ferritin and hepcidin levels and in liver iron deposits. No differences were observed in chitotriosidase activity, CCL18/PARC concentration and IL-4, IL-6, IL-7, IL-10, IL-13, MIP-1α, MIP-1ß,TNF-α cytokine levels. After two years on follow-up, clinical and analytical data were improved and stable ferritin levels maintained less than 700 ng/dL.

Análisis citogenético del melanoma de coroides / Cytogenetic analysis of choroidal melanoma

OBJETIVO: Investigar la presencia de las alteraciones citogenéticas conocidas del melanoma de coroides en una serie de pacientes diagnosticados y tratados en nuestra Unidad de Oncología Ocular. También exponemos una revisión de la literatura actual sobre este tema. MÉTODO: Durante dos años se han estudiado muestras procedentes de piezas de enucleación o de resección de melanoma coroideo de un total de 27 pacientes mediante análisis de microsatélites (MSA) para estudio de pérdida de heterocigosidad (LOH) del cromosoma 3 y mediante multiplex-ligation-prove amplification (MLPA) para los cromosomas 1, 3, 6 y 8. RESULTADOS: Entre los casos estudiados, 20 mostraron como mínimo una de las alteraciones citogenéticas que se buscaban, 11 LOH del cromosoma 3 (44%), 8 ganancias del cromosoma 6 p (30%), 8 ganancias en cromosoma 8 (30%) y 7 pérdidas totales o parciales del cromosoma 1 (26%). CONCLUSIONES: Este es el primer estudio citogenético del melanoma de úvea en nuestro país.La presencia y preponderancia de las distintas alteraciones citogenéticas se corresponden con las de las series publicadas en la literatura. El análisis citogenético nos permite conocer mejor el pronóstico vital individualizado. También puede resultar una herramienta valiosa para establecer el protocolo de seguimiento más adecuado y la necesidad de tratamientos adyuvantes en estos pacientes

PURPOSE: To investigate the presence of known cytogenetic alterations of choroidal melanoma in a series of patients diagnosed and treated in our Ocular Oncology Service. A review of the present literature on this topic is also presented. METHODS: Microsatellite analysis (MSA) studies on loss of heterozygosity (LOH) of chromosome 3, as well as multiplex ligation prove amplification (MLPA) on chromosomes 1, 3, 6 and 8, were performed on enucleation or local resection samples obtained from a total of 27 patients, over a 2 year period. RESULTS: Twenty patients showed at least one of the cytogenetic alterations looked for. A total of 11 cases were found that showed LOH of chromosome 3 (44%), 8 gains of chromosome 8 (30%), 8 gains of chromosome 6 p (30%), and 7 partial or total losses of chromosome 1 (26%). CONCLUSIONS: This is the first study on the cytogenetics of choroidal melanoma performed in our country. The results are similar to that published in the literature. Cytogenetic analysis provides more accurate knowledge on a vital individual prognosis. It also may become a valuable tool for establishing the most adequate follow-up regimes, and the need for adjuvant therapies

[Cytogenetic analysis of choroidal melanoma]. / Análisis citogenético del melanoma de coroides.

PURPOSE: To investigate the presence of known cytogenetic alterations of choroidal melanoma in a series of patients diagnosed and treated in our Ocular Oncology Service. A review of the present literature on this topic is also presented. METHODS: Microsatellite analysis (MSA) studies on loss of heterozygosity (LOH) of chromosome 3, as well as multiplex ligation prove amplification (MLPA) on chromosomes 1, 3, 6 and 8, were performed on enucleation or local resection samples obtained from a total of 27 patients, over a 2 year period. RESULTS: Twenty patients showed at least one of the cytogenetic alterations looked for. A total of 11 cases were found that showed LOH of chromosome 3 (44%), 8 gains of chromosome 8 (30%), 8 gains of chromosome 6p (30%), and 7 partial or total losses of chromosome 1 (26%). CONCLUSIONS: This is the first study on the cytogenetics of choroidal melanoma performed in our country. The results are similar to that published in the literature. Cytogenetic analysis provides more accurate knowledge on a vital individual prognosis. It also may become a valuable tool for establishing the most adequate follow-up regimes, and the need for adjuvant therapies.

Preoperative study of the inner segment/outer segment junction of photoreceptors by spectral-domain optical coherence tomography as a prognostic factor in patients with epiretinal membranes.

OBJECTIVE: To demonstrate whether the preoperative integrity of the inner segment/outer segment (IS/OS) junction of photoreceptors studied by spectral-domain optical coherence tomography (SD-OCT) is a prognostic factor in epiretinal membrane surgery. METHODS: We retrospectively studied patients with an idiopathic epiretinal membrane who underwent a 23-gauge vitrectomy to remove this membrane. Best-corrected visual acuity (BCVA) and SD-OCT scans were examined before and 6 months after the surgery. We studied the retinal microstructure, especially the IS/OS junction of the photoreceptors, and evaluated the intergroup differences between patients with an intact layer and those with an irregular or disrupted layer. We applied both the Wilcoxon and Mann-Whitney tests for statistical analysis. RESULTS: In total, 51 eyes from 51 enrolled patients were examined in this study. The postoperative BCVA was significantly better for eyes that had an intact IS/OS junction than for eyes that had an irregular or disrupted IS/OS junction, as preoperatively observed with SD-OCT scans (P < 0.001). We also observed an important association between disrupted IS/OS junctions and the presence of cystic macular edema (P < 0.01). CONCLUSION: The presence of an intact IS/OS junction on the preoperative SD-OCT scan was an important predictor of better visual recovery after epiretinal membrane surgery.

Intracranial meningiomatosis causing foster kennedy syndrome by unilateral optic nerve compression and blockage of the superior sagittal sinus.

The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction caused by space-occupying anterior fossa masses. The optic disc pallor was attributed to direct compression of the intracranial optic nerve, the optic disc edema to increased intracranial pressure from mass effect, and the reduced olfaction to direct compression of the olfactory nerve. We report a patient with the ophthalmic features of the Foster Kennedy syndrome from meningiomatosis. A meningioma compressed one optic nerve to cause impaired visual function. Convexity meningiomas compressed the superior sagittal sinus to impair cerebral venous drainage, increased intracranial pressure, and papilledema in the other eye. This is the first report of the Foster Kennedy syndrome caused by this mechanism.

[Orbital approach for treatment of carotid-cavernous sinus fistula]. / Abordaje orbitario para el tratamiento de la fístula carótido-cavernosa.

CASE REPORT: A male patient with a left carotid-cavernous sinus fistula (CCSF) and two previous attempts of embolization via the femoral vein was treated with embolization through the superior ophthalmic vein (SOV). DISCUSSION: The main modality of treatment for CCSF is intervention radiology. This aims to occlude the fistula via an arterial route, through the cavernous sinus, or via a venous route, through the inferior petrosus sinus. However, the CCSF is also accessible through the SOV.

Abordaje orbitario para el tratamiento de la fístula carótido-cavernosa / Orbitary approach for treatment of carotid-cavernous sinus fistula

Caso clínico: Varón con fístula carótido-cavernosa (FCC) izquierda y antecedentes previos de embolización no exitosos del seno petroso inferior izquierdo con cateterismo venoso femoral. Se realizó embolización de la fístula canalizando directamente la vena oftálmica superior (VOS). Discusión: La principal modalidad de tratamiento para las FCC es la radiología intervencionista que pretende la oclusión de la fístula vía arterial a través del seno cavernoso; o por vía venosa, a través del seno petroso inferior. Sin embargo, también puede accederse a la FCC a través de la VOS

Case report: A male patient with a left carotid-cavernous sinus fistula (CCSF) and two previous attempts of embolization via the femoral vein was treated with embolization through the superior ophthalmic vein (SOV). Discussion: The main modality of treatment for CCSF is intervention radiology. This aims to occlude the fistula via an arterial route, through the cavernous sinus, or via a venous route, through the inferior petrosus sinus. However, the CCSF is also accessible through the SOV (Arch Soc Esp Oftalmol 2008; 83: 719-722)

[Evidence-based ophthalmology: critical evaluation of the literature in relation to diagnostic tests]. / Oftalmología basada en pruebas: evaluación crítica de la literatura sobre pruebas diagnósticas.

PURPOSE: In general, articles on diagnostic tests have a very poor methodological quality. If we translate their conclusions to daily practice without a proper analysis it is easy to see a typical trend: physicians use new (and expensive) tests without increasing diagnostic capacity; they only increase the health budget. Evidence-based medicine (EBM) consists of using the best evidence in decision-making. It deals with selected and relevant information, supported by data obtained through the most rigorous scientific method: epidemiology and statistics. Critical evaluation of papers related to diagnostic tests is our aim. We provide with basic skills for evaluation and analysis of papers by means of simple topics on statistics, design of clinical assays and clinical epidemiology. METHODS: Review of the medical literature. RESULTS: To evaluate papers on diagnostic tests and to use a test correctly, it is necessary to know its diagnostic capacity, the level of certainty to start treatment, the probability of having the disease before using the test and the test capacity to change that probability. CONCLUSIONS: The maximum performance of a test is reached when it is used in a maximum uncertainty situation (disease probability 50%). Its highest usefulness is obtained when pre-test probability is maximal, after a careful review of the patient's history and a complete patient examination.

Relevancia de las nuevas técnicas de neuroimagen para la detección de aneurismas en las parálisis aisladas del III nervio craneal / Relevance of the new neuroimaging techniques for detection of aneurysms in isolated third nerve palsies

No disponible

Oftalmología basada en pruebas: evaluación crítica de la literatura sobre pruebas diagnósticas / Evidence-based ophthalmology: critical evaluation of the literature in relation to diagnostic tests

Objetivo: En general, los artículos sobre diagnóstico suelen adolecer de una calidad metodológica muy pobre. Si trasladamos sus conclusiones a nuestra práctica cotidiana sin un análisis detenido entenderemos fácilmente un fenómeno creciente: incorporamos acríticamente a nuestras estrategias diagnósticas las novísimas (y carísimas) pruebas sin que con ello aumente significativamente el rendimiento diagnóstico de tales estrategias; sólo se incrementades orbitadamente el gasto. La Medicina Basada en Evidencias es el uso de la mejor evidencia disponible en la toma de decisiones. Se trata de actuar utilizando información seleccionada y avalada por datos obtenidos a través del método científico más riguroso: la epidemiología y la estadística. La evaluación crítica de artículos relacionados con pruebas diagnósticas constituirá nuestro objetivo. Suministraremos las habilidades básicas para la evaluación y análisis de artículos científicos mediante el uso de una serie de conocimientos sencillos de estadística, diseño de investigaciones y epidemiología clínica. Método: Revisión de la literatura. Resultados: Para evaluar artículos sobre pruebas diagnósticas y para utilizar eficientemente una prueba diagnóstica necesitamos conocer su capacidad diagnóstica, el nivel de certeza que queremos tener para llevar a cabo una actitud terapéutica, la probabilidad de que el paciente tenga la enfermedad antes de utilizar la prueba y la capacidad que dicha prueba tiene de modificar tal probabilidad. Conclusiones: El rendimiento máximo de una prueba se obtiene cuando nos encontramos en una situación de máxima incertidumbre (probabilidad de enfermedad del 50%). Su mayor utilidad se obtiene cuando aumentamos al máximo la probabilidad preprueba, tras una minuciosa anamnesis y exploración

Purpose: In general, articles on diagnostic tests have a very poor methodological quality. If we translate their conclusions to daily practice without a proper analysis it is easy to see a typical trend: physicians use new (and expensive) tests without increasing diagnostic capacity; they only increase the health budget. Evidence-based medicine (EBM) consists of using the best evidence in decision-making. It deals with selected and relevant information, supported by data obtained through the most rigorous scientific method: epidemiology and statistics. Critical evaluation of papers related to diagnostic tests is our aim. We provide with basic skills for evaluation and analysis of papers by means of simple topics on statistics, design of clinical assays and clinical epidemiology. Methods: Review of the medical literature. Results: To evaluate papers on diagnostic tests and to use a test correctly, it is necessary to know its diagnostic capacity, the level of certainty to start treatment, the probability of having the disease before using the test and the test capacity to change that probability. Conclusions: The maximum performance of a testis reached when it is used in a maximum uncertainty situation (disease probability 50%). Its highest usefulness is obtained when pre-test probability is maximal, after a careful review of the patient’s history and a complete patient examination

A study comparing two protocols of treatment with intravitreal bevacizumab (Avastin) for neovascular age-related macular degeneration.

AIMS: The aim of this study was to compare two treatment options for choroidal neovascularisation (CNV) secondary to age-related macular degeneration (AMD): (1) bevacizumab administered once a month for 3 months and thereafter as needed (loading dose (LD)); and (2) bevacizumab administered as needed, after the first injection (pro re nata (as needed) (PRN)). METHODS: Fifty consecutive patients were enrolled in this prospective study. The first 25 patients were included in the LD group and the last 25 patients in the PRN group. In both groups, the need for re-treatment was based on the presence of persistent or recurrent macular oedema, subretinal fluid or pigment epithelial detachment on optical coherence tomography scans. RESULTS: At the 6-month follow-up, mean visual acuity improved by 13.7 letters (p<0.001) in the LD group and 4.6 in the PRN group (p<0.001). Thirty-six per cent of patients in the LD group compared with 12% in the PRN group gained 15 or more letters (p = 0.04). Mean foveal thickness decreased by 91.3 microm (p<0.001) in the LD group and 48.2 microm in the PRN group (p<0.001). No ocular or systemic side effects were observed. CONCLUSION: Patients with CNV secondary to AMD treated with a LD protocol had better results than patients treated with a PRN protocol with intravitreal bevacizumab.

Retinal pigment epithelial tears after intravitreal bevacizumab injection for predominantly classic choroidal neovascularization.

PURPOSE: To detect retinal pigment epithelium (RPE) tears in predominantly classic choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD) treated with intravitreal bevacizumab injections. METHODS: Forty consecutive patients with predominantly classic CNV secondary to AMD were treated with 1.25 mg of intravitreal bevacizumab. Patients were evaluated with visual acuity (VA) measured with Early Treatment Diabetic Retinopathy Study charts, optical coherence tomography, and fluorescein angiography. RESULTS: Three patients developed a RPE tear after the first injection. The first patient had been treated with verteporfin therapy and VA remained unchanged. In the other two cases the CNV was naive and VA improved since the foveal center was not involved by the tear and macular edema was reduced. CONCLUSIONS: RPE tears can occur following intravitreal bevacizumab injections in patients with predominantly classic CNV although VA is not always affected.

Una discusión actual ¿grave o severo? / Grave or severe? A current discussion

No disponible

[Multiple neoplasms in patients with uveal melanoma]. / Neoplasias múltiples en pacientes afectos de melanoma de úvea.

PURPOSE: To study the prevalence of multiple neoplasms in patients affected by uveal melanoma in Spain and to relate these with survival. METHOD: We carried out a longitudinal prospective study of the prevalence of multiple neoplasms in patients diagnosed to have a uveal melanoma during the years 1984-2005. The data has been analysed for the following variables: age, sex, date of diagnosis, affected eye, origin and tumoral size, classification according to COMS (Collaborative Ocular Melanoma Study), time of follow-up, presence of other neoplasms, current clinical state, date and cause of death. RESULTS: Three hundred and five patients affected by uveal melanoma have been studied in the Ocular Oncology Unit of our institution; 24 patients (7.9%) had evidence in their medical reports of one or more additional neoplasms. Excluding cutaneous neoplasms originating in basal cells, this number reduced to 22 patients (7.2%). We did not find any statistically significant differences among the presentation age, sex or localization of the melanoma (ciliary body or choroid) and the presence or absence of a second neoplasm. When we analysed the proportion of patients with metastatic disease (both alive and dead) who presented with a second neoplasm (40.9%), we found a statistically significant relationship between these variables (Chi-square test, p=0.004). CONCLUSIONS: We have observed a percentage of second neoplasms similar to that described in other international studies. We did not find a larger proportion with a second neoplasm according to the sex, age, or tumoral localization, nor did we observe a higher frequency of any particular second neoplasm. We have defined a relationship between metastasic uveal melanoma, and the development of a second neoplasm, which clearly indicates a need for increased systemic follow-up in such patients.

Neoplasias múltiples en pacientes afectos de melanoma de úvea / Multiple neoplasms in patients with uveal melanoma

Introducción: El bupropión se usa como deshabituante del hábito tabáquico. Puede provocar alteraciones visuales, pero hasta el momento no se había comunicado la aparición de anisocoria. Caso clínico: Mujer de 40 años con migrañas, en tratamiento con bupropión presentó midriasis monocular. Instilando cocaína al 5%, ambas pupilas dilataron de la misma manera. Con pilocarpina 0,025% ambas pupilas contrajeron de forma similar. La anisocoria cesó al suspender el tratamiento. Discusión: El bupropión es inhibidor selectivo de la recaptación de noradrenalina y dopamina. La vía pupilar simpática podría tener una cierta hipersensibilidad en pacientes migrañosos por denervación que podría estimularse con el tratamiento con estos fármacos, lo que explicaría la anisocoria. Por otra parte el estímulo midriático del bupropion podría haber desenmascarado una anisocoria fisiológica

Introduction: Bupropion is used to help people stop smoking. This drug can cause visual alterations but, up to now, its use was not associated with anisocoria. Case report: A 40 year-old woman with a personal history of migraines, presented with monocular mydriasis during treatment with bupropion. Both pupils dilated equally after a 5% cocaine test, and constricted equally after a 0.025% Pilocarpine test. The anisocoria disappeared after the treatment with bupropion was withdrawn. Discussion: Bupropion inhibits neural uptake of norepinephrine and dopamine. Patients with migraine could have a minor unilateral sympathetic pupillary deficit. This deficit could cause hypersensitivity in the oculosympathetic pathway that could be stimulated with bupropion treatment. This feature could explain the mydriasis in our patient. Another explanation could be that bupropion could unmask a physiological anisocoria