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1.
Arch. Soc. Esp. Oftalmol ; 98(3): 150-154, mar. 2023. ilus, tab
Artículo en Español | IBECS | ID: ibc-216822

RESUMEN

Objetivo Evaluar la posibilidad de terapia génica en pacientes con enfermedades oculares hereditarias con diagnóstico genético establecido. Los objetivos secundarios son revisar la tasa de diagnóstico genético y hacer una actualización de los genes para los cuales hay estudios clínicos o preclínicos en curso que pudieran permitir la terapia génica. Métodos Estudio observacional, retrospectivo y multicéntrico de 177 pacientes con enfermedades oculares hereditarias a quienes se realizó estudio genético.Resultados De 177 pacientes con estudio genético, se incluyeron 146. Se identificaron variantes causantes de enfermedad en 117 pacientes con lo que se obtuvo una tasa de detección de variantes del 80,1%. Se encontraron variantes patogénicas en 47 genes, siendo ABCA4 el gen más común (17,9%), seguido por CRB1 (11,9%). De los pacientes con diagnóstico genético, el 64,1% tienen una variante en un gen para el cual se ha estudiado terapia génica y solo el 40,1% presentan una variante en genes con estudios para su terapia génica en fase clínica. Conclusiones El estudio genético ha abierto nuevos horizontes en el manejo de pacientes con enfermedades oculares hereditarias. Cerca de dos tercios de los pacientes presentó variantes patogénicas en genes para los cuales se ha evaluado la posibilidad de terapia génica. Sin embargo, muchos estudios se encuentran en fase preclínica. Se debe adecuar las expectativas de los pacientes sometidos a estudio genético y sus familias (AU)


Objective To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy. Methods Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing. Results Of 177 patients with genetic testing, 146 were enrolled for this study. Disease-causing variants were identified in 117 patients (variant detection rate of 80.1%). Pathogenic variants were found in 47 genes, with ABCA4 being the most common gene (17.9%), followed by CRB1 (11.9%). 64.1% of patients with a genetic diagnosis have a variant in genes for which gene therapy has been studied and only 40.1% have a variant in genes with studies for gene therapy in clinical phase. Conclusions Genetic testing has opened new horizons in the management of patients with hereditary ocular diseases. About two-thirds of the patients had pathogenic variants in genes for which gene therapy has been evaluated. However, many studies are in the pre-clinical phase. The expectations of patients undergoing genetic study and their families should be managed accordingly (AU)


Asunto(s)
Humanos , Terapia Genética/métodos , Enfermedades de la Retina/terapia , Enfermedades Hereditarias del Ojo/terapia , Estudios Retrospectivos
2.
Arch Soc Esp Oftalmol (Engl Ed) ; 98(3): 150-154, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36577466

RESUMEN

OBJECTIVE: To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy. METHODS: Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing. RESULTS: Of 177 patients with genetic testing, 146 were enrolled for this study. Disease-causing variants were identified in 117 patients (variant detection rate of 80.1%). Pathogenic variants were found in 47 genes, with ABCA4 being the most common gene (17.9%), followed by CRB1 (11.9%). 64.1% of patients with a genetic diagnosis have a variant in genes for which gene therapy has been studied and only 40.1% have a variant in genes with studies for gene therapy in clinical phase. CONCLUSIONS: Genetic testing has opened new horizons in the management of patients with hereditary ocular diseases. About two-thirds of the patients had pathogenic variants in genes for which gene therapy has been evaluated. However, many studies are in the pre-clinical phase. The expectations of patients undergoing genetic study and their families should be managed accordingly.


Asunto(s)
Proteínas del Ojo , Enfermedades de la Retina , Humanos , Estudios Retrospectivos , Proteínas del Ojo/genética , Retina , Terapia Genética , Transportadoras de Casetes de Unión a ATP/genética , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética
3.
Arch Soc Esp Oftalmol (Engl Ed) ; 96(6): 288-292, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34092282

RESUMEN

OBJECTIVE: To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications. METHODS: Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma. RESULTS: A total of 73 salvage IAC procedures with topotecan and melphalan were carried out. Success rate was 77% at a mean follow-up of 41.4 months. All patients with only one remaining eye avoided enucleation (10 cases). Catheterization was successful in 98.6% of cases. The types of catheterizations were as follows: 71.2% supraselective ophthalmic artery, 12.3% occlusion pump assisted supraselective ophthalmic artery, 16.4% selective external carotid with retrograde flow. 14% of patients suffered local adverse effects: 1 (2.8%) transitory ptosis, 1 (2.8%) transitory oculomotor nerve palsy, 2 (5.7%) aseptic cellulitis and 1 (2.8%) periorbitary pigmentation. 4.1% (3 cases) suffered neutropenia due to medullar chemosuppression. There were no cases of severe anemia or thrombocytopenia. There were no cerebral ischemic events or mortality associated to the procedure. CONCLUSION: IAC with melphalan and topotecan is a safe and effective treatment option for persistent or recurrent retinoblastoma, able to reduce enucleation rates.


Asunto(s)
Neoplasias de la Retina , Retinoblastoma , Chile , Humanos , Infusiones Intraarteriales , Recurrencia Local de Neoplasia , Neoplasias de la Retina/tratamiento farmacológico , Retinoblastoma/tratamiento farmacológico , Estudios Retrospectivos
4.
Arch. Soc. Esp. Oftalmol ; 96(6): 288-292, jun. 2021.
Artículo en Español | IBECS | ID: ibc-217835

RESUMEN

Objetivo Establecer la tasa de éxito de la quimioterapia intraarterial (QIA) en modalidad de rescate expresada en el porcentaje de ojos que lograron remisión tumoral y evitaron la enucleación. El segundo objetivo fue analizar la caracterización clínica, resultados del cateterismo, complicaciones locales y sistémicas asociadas. Métodos Estudio retrospectivo de serie de casos intervencional de 29 pacientes (35 ojos) con retinoblastoma intraocular persistente o recidivado. Resultados Se realizaron un total de 73 procedimientos de QIA con topotecán y melfalán en modalidad de rescate. La tasa de éxito de la QIA fue del 77% en un seguimiento promedio de 41,4 meses. Todos los casos con ojo único evitaron la enucleación de su ojo residual (10 casos). El cateterismo fue exitoso en un 98,6%. Los tipos de cateterización logrados fueron los siguientes: supraselectiva por arteria oftálmica (71,2%), supraselectiva por arteria oftálmica asistida con balón de oclusión en carótida externa (12,3%), selectiva por rama de carótida externa con flujo retrógrado (16,4%). Se reportaron efectos adversos locales en el 14% de los pacientes: una (2,8%) ptosis palpebral transitoria, una (2,8%) parálisis del sexto par transitoria, 2 (5,7%) celulitis aséptica y una (2,8%) pigmentación de región periorbitaria. La frecuencia de neutropenia por quimiosupresión medular fue del 4,1% (3 casos). No hubo casos de anemia ni trombocitopenia severas. No hubo eventos isquémicos cerebrales ni mortalidad asociada al procedimiento. Conclusión La QIA con melfalán y topotecán es una alternativa segura y efectiva para el tratamiento del retinoblastoma persistente o recidivado, permitiendo reducir las tasas de enucleación (AU)


Objective To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications. Methods Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma. Results A total of 73 salvage IAC procedures with topotecan and melphalan were carried out. Success rate was 77% at a mean follow-up of 41.4 months. All patients with only one remaining eye avoided enucleation (10 cases). Catheterization was successful in 98.6% of cases. The types of catheterizations were as follows: 71.2% supraselective ophthalmic artery, 12.3% occlusion pump assisted supraselective ophthalmic artery, 16.4% selective external carotid with retrograde flow. 14% of patients suffered local adverse effects: 1 (2.8%) transitory ptosis, 1 (2.8%) transitory oculomotor nerve palsy, 2 (5.7%) aseptic cellulitis and 1 (2.8%) periorbitary pigmentation. 4.1% (3 cases) suffered neutropenia due to medullar chemosuppression. There were no cases of severe anemia or thrombocytopenia. There were no cerebral ischemic events or mortality associated to the procedure. Conclusion IAC with melphalan and topotecan is a safe and effective treatment option for persistent or recurrent retinoblastoma, able to reduce enucleation rates (AU)


Asunto(s)
Humanos , Masculino , Femenino , Retinoblastoma/tratamiento farmacológico , Antineoplásicos/administración & dosificación , Inyecciones Intraarteriales , Resultado del Tratamiento , Estudios Retrospectivos , Recurrencia Local de Neoplasia , Estudios de Seguimiento , Análisis de Supervivencia , Chile
5.
Arch. Soc. Esp. Oftalmol ; 92(10): 472-476, oct. 2017. ilus, tab
Artículo en Español | IBECS | ID: ibc-167442

RESUMEN

Objetivos: Describir los resultados anatómicos y refractivos en un grupo de pacientes tratados por retinopatía del prematuro (ROP) con bevacizumab intravítreo o láser. Métodos: Estudio multicéntrico, prospectivo y observacional. Se incluyó a pacientes tratados por ROP en el Hospital Roberto del Río. Los pacientes con menos de 6 meses de seguimiento fueron excluidos. Los pacientes con zona II posterior, zona I o retinopatía agresiva posterior (AP-ROP) fueron tratados con bevacizumab intravítreo. El resto fueron tratados con láser. El seguimiento fue hecho cada 3 meses, e incluyó fondo de ojo, refracción y test de Teller. Resultados: Se incluyeron 144 ojos de 72 pacientes. Un total de 49 fueron tratados con láser y 23 con bevacizumab. Un caso (1,4%) tratado con láser progresó a un desprendimiento de retina etapa 4 b y requirió vitrectomía bilateral. Otros 45 casos tuvieron ROP de tipo 1; 16 enfermedad umbral y 11 AP-ROP. La mediana de edad gestacional fue de 26 semanas (rango 23-30) y la mediana de peso de nacimiento fue de 800 g (rango 405-1.350). La mediana de seguimiento fue de 10 meses (rango 6-28). La mediana del Teller fue de 3,2 ciclos/cm (rango 0,32-13). Del total, 16 casos (22%) presentaron miopía de -6 D o más. La mediana de la esfera fue de -1,75 D (rango -16,00 a +3,50 D) y la mediana del cilindro fue de 0,00 (rango -4,5 a +1,5 D). El éxito anatómico se logró en 71 pacientes (98,6%). Conclusión: El tratamiento con láser o bevacizumab intravítreo como tratamiento primario en ROP es altamente eficaz. El éxito anatómico se alcanzó en la mayoría de los pacientes. Los resultados visuales obtenidos por test de Teller muestran buenos resultados (AU)


Objective: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP). Methods: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6 months of follow-up were excluded. Cases with posterior zone II, zone I ROP, and aggressive posterior ROP (AP-ROP) were treated with intravitreal bevacizumab. All other patients were treated with laser. Follow-up was performed every 3 months, and included fondo evaluation, refraction, and Teller tests. Results: The treated group included 144 eyes of 72 patients, of whom 49 were treated with laser and 23 with intravitreal bevacizumab. One (1.4%) patient from the laser group progressed to stage 4 b retinal detachment and required bilateral vitrectomy. Of the remainder, 45 cases had type 1 ROP, 16 had threshold disease, and 11 had AP-ROP. The median of gestational age was 26 weeks (range 23-30), and median of birth weight was 800 g (range 405-1350). Median follow-up was 10 months (range 6-8). The Teller test median was 3.2 cycles/cm (range 0.32-13). There were 16 (22%) cases with a myopic refraction of -6 D or more. The sphere median was -1.75 D (range -16.00 to +3.50 D) and the cylindrical median was 0.00 (range -4.5 to +1.5 D). Anatomical success was achieved in 71 (98.6%) of patients. Conclusion: Treatment with laser or intravitreal bevacizumab is a highly successful primary treatment for ROP. Anatomical success can be achieved in most cases. Treated patients develop frequent and severe refractive defects, which should be corrected. Vision outcome, measured using the Teller preferential test, shows good results (AU)


Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Retinopatía de la Prematuridad/terapia , Bevacizumab/uso terapéutico , Terapia por Láser , Resultado del Tratamiento , Inyecciones Intravítreas , Agudeza Visual , Refracción Ocular
6.
Arch Soc Esp Oftalmol ; 92(10): 472-476, 2017 Oct.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28624314

RESUMEN

OBJECTIVE: To describe the anatomical and refractive outcomes after treatment with intravitreal bevacizumab or laser in a patient cohort with retinopathy of prematurity (ROP). METHODS: A multicentre, prospective, and observational study was performed on patients with ROP treated at Hospital Roberto del Río. Those patients with less than 6months of follow-up were excluded. Cases with posterior zone II, zone I ROP, and aggressive posterior ROP (AP-ROP) were treated with intravitreal bevacizumab. All other patients were treated with laser. Follow-up was performed every 3 months, and included fondo evaluation, refraction, and Teller tests. RESULTS: The treated group included 144 eyes of 72 patients, of whom 49 were treated with laser and 23 with intravitreal bevacizumab. One (1.4%) patient from the laser group progressed to stage 4b retinal detachment and required bilateral vitrectomy. Of the remainder, 45 cases had type 1 ROP, 16 had threshold disease, and 11 had AP-ROP. The median of gestational age was 26 weeks (range 23-30), and median of birth weight was 800g (range 405-1350). Median follow-up was 10 months (range 6-8). The Teller test median was 3.2 cycles/cm (range 0.32-13). There were 16 (22%) cases with a myopic refraction of -6 D or more. The sphere median was -1.75 D (range -16.00 to +3.50 D) and the cylindrical median was 0.00 (range -4.5 to +1.5 D). Anatomical success was achieved in 71 (98.6%) of patients. CONCLUSION: Treatment with laser or intravitreal bevacizumab is a highly successful primary treatment for ROP. Anatomical success can be achieved in most cases. Treated patients develop frequent and severe refractive defects, which should be corrected. Vision outcome, measured using the Teller preferential test, shows good results.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Bevacizumab/uso terapéutico , Retinopatía de la Prematuridad/tratamiento farmacológico , Inhibidores de la Angiogénesis/administración & dosificación , Bevacizumab/administración & dosificación , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Inyecciones Intravítreas , Coagulación con Láser , Masculino , Estudios Prospectivos , Errores de Refracción/etiología , Retinopatía de la Prematuridad/terapia , Resultado del Tratamiento , Agudeza Visual
7.
Arch. Soc. Esp. Oftalmol ; 91(8): 379-384, ago. 2016. tab, ilus
Artículo en Español | IBECS | ID: ibc-154607

RESUMEN

OBJETIVOS: Reportar los beneficios del diagnóstico genético en una serie de pacientes con retinoblastoma. MÉTODOS: Estudio longitudinal observacional. Se incluyó a pacientes con retinoblastoma y sus familias. Se registraron datos demográficos y clínicos. Se obtuvieron muestras de sangre y del tumor, realizándose análisis mediante next generation sequencing. Con la sospecha de síndrome de deleción 13q, se realizó análisis citogenético con cariotipo molecular (Cytoscan® HD, Affymetrix, Santa Clara, CA, EE. UU.), utilizando un chip de alta densidad con 1,9 millones de sondas únicas no polimórficas y 750.000 sondas de SNP. RESULTADOS: Se analizan 7 casos. Cuatro eran hombres. La mediana de edad del diagnóstico fue de 21 meses (rango 5-36). Tres casos presentaron retinoblastoma bilateral y 4, unilateral. Ninguno tenía antecedentes familiares. En todos se estudió la sangre y en los 2 pacientes unilaterales enucleados se estudió el tejido tumoral. Se encontraron 6 mutaciones, todas fueron de novo.Solo una era nueva (c.164delC; caso 1). Un caso de tumor unilateral reveló un mosaicismo en sangre, por lo que su enfermedad es heredable, tiene riesgo de desarrollar retinoblastoma en el ojo contralateral sano y riesgo de presentar otros tumores primarios. Conclusión El diagnóstico molecular de RB1 en pacientes con retinoblastoma influye sobre la toma de decisiones, los costos, el tratamiento y el pronóstico de los pacientes y sus familias


OBJECTIVES: To report the benefits of genetic diagnosis in patients with retinoblastoma. METHOD: Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumour samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes. RESULTS: Of the 7 cases were analysed 4 were male. The mean age at diagnosis was 21 months (range 5-36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analysed, and a study was performed on the tissue from 2 unilateral enucleated tumours, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumour revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumours. CONCLUSION: Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families


Asunto(s)
Humanos , Masculino , Femenino , Lactante , Retinoblastoma/diagnóstico , Genes de Retinoblastoma/genética , Neoplasias del Ojo/genética , Técnicas de Diagnóstico Molecular/métodos , Toma de Decisiones , Cariotipificación/métodos , Marcadores Genéticos
8.
Arch Soc Esp Oftalmol ; 91(8): 379-84, 2016 Aug.
Artículo en Inglés, Español | MEDLINE | ID: mdl-27021801

RESUMEN

OBJECTIVES: To report the benefits of genetic diagnosis in patients with retinoblastoma. METHOD: Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumour samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes. RESULTS: Of the 7 cases were analysed 4 were male. The mean age at diagnosis was 21 months (range 5-36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analysed, and a study was performed on the tissue from 2 unilateral enucleated tumours, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumour revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumours. CONCLUSION: Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families.


Asunto(s)
ADN de Neoplasias/genética , Neoplasias del Ojo/genética , Genes de Retinoblastoma , Análisis de Secuencia por Matrices de Oligonucleótidos , Proteínas de Unión a Retinoblastoma/genética , Retinoblastoma/genética , Ubiquitina-Proteína Ligasas/genética , Preescolar , Chile , Deleción Cromosómica , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 13/genética , Análisis Mutacional de ADN , ADN de Neoplasias/sangre , ADN de Neoplasias/aislamiento & purificación , Neoplasias del Ojo/sangre , Neoplasias del Ojo/química , Neoplasias del Ojo/diagnóstico , Femenino , Humanos , Lactante , Masculino , Mosaicismo , Mutación , Neoplasias Primarias Múltiples/sangre , Neoplasias Primarias Múltiples/química , Neoplasias Primarias Múltiples/diagnóstico , Neoplasias Primarias Múltiples/genética , Polimorfismo de Nucleótido Simple , Retinoblastoma/sangre , Retinoblastoma/química , Retinoblastoma/diagnóstico , Análisis de Secuencia de ADN/métodos
9.
Arch. Soc. Esp. Oftalmol ; 90(2): 55-62, feb. 2015. tab, graf, ilus
Artículo en Español | IBECS | ID: ibc-136607

RESUMEN

OBJETIVOS: Reportar los resultados del manejo multidisciplinario de pacientes con retinoblastoma, incluyendo supervivencia global, tasa de enucleación y éxito de la quimiorreducción sistémica. MÉTODOS: Estudio retrospectivo 27 pacientes (37 ojos) con diagnóstico de retinoblastoma, tratados por un equipo multidisciplinario en el Hospital San Juan de Dios. Se incluyeron información demográfica, características clínicas, supervivencia, tratamiento local y sistémico. Se realizó además un subanálisis de tratamiento con quimioterapia intraarterial (QIA). RESULTADOS: Catorce pacientes (52%) fueron de sexo masculino. La mediana de edad al ingreso fue de 8 meses (0,16-90). La mediana ± desviación estándar de seguimiento fue de 33 ± 21 meses. Diez casos (37%) se diagnosticaron después de los 15 meses de edad, con una mediana de 35 meses (24-90). En 17 (63%) pacientes fueron retinoblastomas unilaterales, mientras 10 (37%) tuvieron retinoblastoma bilateral. La leucocoria, aislada o asociada a otros signos, fue el motivo de consulta más frecuente (63%). La tasa global de enucleación fue del 57% (n = 21), siendo el tratamiento primario en 15 (55%) pacientes. La tasa de enucleación en retinoblastoma unilateral fue del 76,5% y en retinoblastoma bilateral del 60% de un ojo y el 10% de ambos. Diecisiete (63%) pacientes recibieron quimioterapia sistémica (media de ciclos: 5,3 ± 2,1). El éxito global de la quimiorreducción sistémica y la terapia focal fue del 68%. Tres pacientes fueron tratados con QIA como terapia de rescate, logrando controlar el tumor en 2 pacientes a 6 meses de seguimiento, siendo los primeros casos en Chile. La supervivencia fue del 100%. CONCLUSIÓN: El manejo multidisciplinario del retinoblastoma permite una supervivencia y una morbilidad comparable con la literatura internacional


OBJECTIVE: To report the results of the multidisciplinary management of patients with retinoblastoma, including survival, enucleation rate, and systemic chemoreduction success. METHODS: A retrospective study was conducted on 27 patients (37 eyes) diagnosed with retinoblastoma, and treated by a multidisciplinary team in San Juan de Dios Hospital. Demographic information, clinical characterization, survival, local and systemic treatments were included in the analysis. Patients treated with intra-arterial chemotherapy (IAC) were also reviewed. RESULTS: The study included14 male patients (52%). The median of age at presentation was 8 months (0.16-90). The median follow-up time was 33 ± 21 months. The diagnosis was made in 10 (37%) cases after 15 months old, with a median of 35 months (24-90). 17 (63%) patients had unilateral retinoblastoma, and 10 (37%) bilateral retinoblastoma. Leukocoria, isolated or associated with other signs, was the most frequent reason for referral (63%). Global enucleation rate was 57% (n = 21), being the primary treatment in 15 (55%) patients. Enucleation rate in unilateral retinoblastoma was 76.5%, and for bilateral retinoblastoma, it was 60% for one eye and 10% for both. Systemic chemotherapy was prescribed in 17 (63%) patients, with a mean number of cycles of 5.3 ± 2.1. The overall success of chemoreduction and focal therapy in order to avoid external radiotherapy and/or enucleation was 68%. Three patients were treated with IAC as a salvage therapy, controlling the tumor in 2 patients at 6 months of follow-up. These are the first cases reported in Chile. Survival rate was 100%. CONCLUSION: Multidisciplinary management of retinoblastoma led to a survival rate and morbidity comparable with international reports


Asunto(s)
Humanos , Masculino , Femenino , Retinoblastoma/inducido químicamente , Retinoblastoma/metabolismo , Enucleación del Ojo/instrumentación , Enucleación del Ojo/métodos , Estrabismo/congénito , Estrabismo/genética , Exoftalmia/diagnóstico , Retinoblastoma/irrigación sanguínea , Retinoblastoma/cirugía , Enucleación del Ojo/enfermería , Enucleación del Ojo/rehabilitación , Estrabismo/diagnóstico , Estrabismo/metabolismo , Exoftalmia/complicaciones , Estudios Retrospectivos
10.
Arch Soc Esp Oftalmol ; 90(2): 55-62, 2015 Feb.
Artículo en Español | MEDLINE | ID: mdl-25617906

RESUMEN

OBJECTIVE: To report the results of the multidisciplinary management of patients with retinoblastoma, including survival, enucleation rate, and systemic chemoreduction success. METHODS: A retrospective study was conducted on 27 patients (37 eyes) diagnosed with retinoblastoma, and treated by a multidisciplinary team in San Juan de Dios Hospital. Demographic information, clinical characterization, survival, local and systemic treatments were included in the analysis. Patients treated with intra-arterial chemotherapy (IAC) were also reviewed. RESULTS: The study included14 male patients (52%). The median of age at presentation was 8 months (0.16-90). The median follow-up time was 33 ± 21 months. The diagnosis was made in 10 (37%) cases after 15 months old, with a median of 35 months (24-90). 17 (63%) patients had unilateral retinoblastoma, and 10 (37%) bilateral retinoblastoma. Leukocoria, isolated or associated with other signs, was the most frequent reason for referral (63%). Global enucleation rate was 57% (n=21), being the primary treatment in 15 (55%) patients. Enucleation rate in unilateral retinoblastoma was 76.5%, and for bilateral retinoblastoma, it was 60% for one eye and 10% for both. Systemic chemotherapy was prescribed in 17 (63%) patients, with a mean number of cycles of 5.3 ± 2.1. The overall success of chemoreduction and focal therapy in order to avoid external radiotherapy and/or enucleation was 68%. Three patients were treated with IAC as a salvage therapy, controlling the tumor in 2 patients at 6 months of follow-up. These are the first cases reported in Chile. Survival rate was 100%. CONCLUSION: Multidisciplinary management of retinoblastoma led to a survival rate and morbidity comparable with international reports.


Asunto(s)
Grupo de Atención al Paciente , Neoplasias de la Retina/terapia , Retinoblastoma/terapia , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos
11.
Arch. Soc. Esp. Oftalmol ; 90(1): 9-13, ene. 2015. ilus, tab
Artículo en Español | IBECS | ID: ibc-136345

RESUMEN

OBJETIVOS: Evaluar la eficacia de la queratoplastia lamelar anterior profunda (DALK) mediante técnica de Melles (técnica B) en pacientes con queratocono avanzado en comparación con la técnica clásica de queratoplastia penetrante (QPP) (técnica A). METODOLOGÍA: Estudio retrospectivo descriptivo comparativo entre la técnica A y la técnica B en grupos homogéneos. RESULTADOS: La agudeza visual con corrección (test de Snellen, escala decimal) ha sido de 0,77 ± 0,32 para el grupo A y de 0,62 ± 0,29 para el grupo B, no siendo diferencias estadísticamente significativas. El defecto refractivo esférico medio en el grupo A fue de −1,73 ± 5,1 dioptrías y el equivalente esférico medio de −3,92 ± 5,1 dioptrías. El grupo B presentó valores de −2,67 ± 4,02 dioptrías y −4,55 ± 4,08 dioptrías, respectivamente, no habiendo diferencias para estas variables en ambos grupos. El cilindro residual una vez retiradas las suturas fue de 4,47 ± 2,47 dioptrías para el grupo A y de 3,77 ± 1,63 dioptrías para el grupo B, sin ser estadísticamente significativas. CONCLUSIÓN: No se han encontrado diferencias estadísticamente significativas para ninguna de las variables estudiadas al comparar ambos grupos mediante la t de Student para muestras independientes. Más estudios acerca de la homogeneidad del lecho estromal residual y del espesor del mismo pueden aportar las claves para que esta técnica se acerque a las agudezas visuales de una QPP o una DALK mediante técnica descemética


OBJECTIVE: To study the correlation between expert and non-expert observers in the reporting images for the diagnosis of retinopathy of prematurity (ROP) in a telemedicine setting. METHODS: A cross-sectional, multicenter study, consisting of 25 sets of images of patients screened for ROP. They were evaluated by two experts in ROP and 1 non-expert and classified according to telemedicine classification, zone, stage, plus disease and Ells referral criteria. The telemedicine classification was: no ROP, mild ROP, type 2 ROP, or ROP that requires treatment. Ells referral criteria is defined as the presence at least one of the following: ROP in zone I, Stage 3 in zone I or II, or plus + For statistical analysis, SPSS 16.0 was used. For correlation, Kappa value was performed. RESULTS: There was a high correlation between observers for the assessment of ROP stage (0.75; 0.54-0.88) plus disease (0.85; 0.71-0.92), and Ells criteria (0.89; 0.83-1.0). However, inter-observer values were low for zone (0.41; 0.27-0.54) and telemedicine classification (0.43; 0.33-0.6). CONCLUSIONS: When evaluating telemedicine images by examiners with different levels of expertise in ROP, the Ells criteria gave the best correlation. In addition, stage of disease and plus disease have good correlation among observers. In contrast, the correlation between observers was low for zone and telemedicine classification


Asunto(s)
Humanos , Masculino , Femenino , Oftalmología , Oftalmología/métodos , Telemedicina/ética , Telemedicina , Receptores Opioides kappa/administración & dosificación , Receptores Opioides kappa/metabolismo , Receptores Opioides kappa/análisis , Oftalmología/clasificación , Oftalmología/organización & administración , Telemedicina/métodos , Telemedicina/organización & administración , Receptores Opioides kappa/biosíntesis , Receptores Opioides kappa/aislamiento & purificación
12.
Arch Soc Esp Oftalmol ; 90(1): 9-13, 2015 Jan.
Artículo en Español | MEDLINE | ID: mdl-25443208

RESUMEN

OBJECTIVE: To study the correlation between expert and non-expert observers in the reporting images for the diagnosis of retinopathy of prematurity (ROP) in a telemedicine setting. METHODS: A cross-sectional, multicenter study, consisting of 25 sets of images of patients screened for ROP. They were evaluated by two experts in ROP and 1 non-expert and classified according to telemedicine classification, zone, stage, plus disease and Ells referral criteria. The telemedicine classification was: no ROP, mild ROP, type 2 ROP, or ROP that requires treatment. Ells referral criteria is defined as the presence at least one of the following: ROP in zone I, Stage 3 in zone I or II, or plus+ For statistical analysis, SPSS 16.0 was used. For correlation, Kappa value was performed. RESULTS: There was a high correlation between observers for the assessment of ROP stage (0.75; 0.54-0.88) plus disease (0.85; 0.71-0.92), and Ells criteria (0.89; 0.83-1.0). However, inter-observer values were low for zone (0.41; 0.27-0.54) and telemedicine classification (0.43; 0.33-0.6). CONCLUSIONS: When evaluating telemedicine images by examiners with different levels of expertise in ROP, the Ells criteria gave the best correlation. In addition, stage of disease and plus disease have good correlation among observers. In contrast, the correlation between observers was low for zone and telemedicine classification.


Asunto(s)
Variaciones Dependientes del Observador , Oftalmología , Oftalmoscopía , Retinopatía de la Prematuridad/diagnóstico por imagen , Telemedicina , Estudios Transversales , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Internado y Residencia , Oftalmología/educación , Médicos , Hemorragia Retiniana/diagnóstico por imagen , Hemorragia Retiniana/etiología , Retinopatía de la Prematuridad/complicaciones , Índice de Severidad de la Enfermedad
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