Resultados funcionales de tratamiento con bevacizumab intravítreo en pacientes con retinopatía del prematuro / Functional results in children with retinopathy of prematurity treated with intravitreal bevacizumab

Objetivo El propósito del presente estudio es determinar la eficacia y describir los resultados funcionales en términos de agudeza visual y defecto refractivo a largo plazo del tratamiento con una dosis de bevacizumab intravítreo en pacientes con retinopatía del prematuro (ROP) tipo1 de alto riesgo. Métodos Se trata de un estudio clínico retrospectivo en el que se seleccionaron todos los pacientes con ROP preumbral tipo1 de alto riesgo tratados según práctica clínica habitual con bevacizumab intravítreo entre diciembre de 2013 y enero de 2018. Los pacientes con un seguimiento inferior a tres años fueron excluidos. Se registraron los datos de agudeza visual y refracción bajo cicloplejia de la última exploración oftalmológica realizada. Se definió la variable éxito como ausencia de retratamiento con anti-VEGF intravítreo o láser durante el tiempo de seguimiento. Resultados Se incluyeron en el análisis 76 ojos de 38 pacientes. Un total de 20 pacientes (40 ojos) tenían valoración de mejor agudeza visual corregida tomada utilizando la prueba de Snellen. La edad media de estos pacientes era de 6años (intervalo 4-9). La agudeza visual mediana fue de 0,80 (RIQ: 0,50; 1,00). Treinta y cuatro ojos (85%) tenían buena agudeza visual (mayor o igual a 0,5). Se obtuvo la refracción bajo cicloplejia de 74 ojos de 37 pacientes. La mediana del equivalente esférico en la última revisión fue de +0,94 (RIQ: −0,25; 1,88). La tasa de éxito fue del 96,05%. Conclusión El bevacizumab intravítreo es una terapia efectiva con buenos resultados funcionales para ROP tipo1 de alto riesgo. En nuestro estudio se observó buena respuesta al tratamiento, con una tasa de éxito superior al 95% (AU)

Background/aim The aim of the study is to describe the efficacy and to determine the functional outcome in terms of visual acuity and refractive defect of a single dose of intravitreal bevacizumab in patients with high-risk ROP type1. Methods In this retrospective clinical study patients diagnosed between December 2013 and January 2018 with high-risk pre-threshold ROP type1 and treated with intravitreal bevacizumab were selected. All patients were treated following the established protocol at our centre. Those patients with less than three-year follow-up were excluded. Visual acuity and cycloplegic refraction in the last visit were registered. Treatment efficacy was defined as the absence of retreatment with intravitreal anti-VEGF or laser during follow-up. Results A total of 38 infants (76eyes) were included in the analysis. Twenty infants (40eyes) completed visual acuity testing. Mean age was 6years (IQR: 4-9). Median visual acuity was 0.8 (IQR: 0.5-1). Thirty-four eyes (85%) had good visual acuity (greater than or equal to 0.5). Thirty-seven patients (74eyes) had cycloplegic refraction measured. Median spherical equivalent at the last visit was +0.94 (IQR: −0.25; 1.88). Treatment success rate was 96.05%. Conclusion Intravitreal bevacizumab treatment showed good functional outcome in patients with high-risk ROP type1. In our study, good response to treatment was observed with a success rate over 95% (AU)

Functional results in children with retinopathy of prematurity treated with intravitreal bevacizumab.

BACKGROUND/AIM: The aim of the study is to describe the efficacy and to determine the functional outcome in terms of visual acuity and refractive defect of a single dose of intravitreal bevacizumab in patients with high-risk ROP type 1. METHODS: In this retrospective clinical study patients diagnosed between December 2013 and January 2018 with high-risk pre-threshold ROP type 1 and treated with intravitreal bevacizumab were selected. All patients were treated following the established protocol at our centre. Those patients with less than three-year follow-up were excluded. Visual acuity and cycloplegic refraction in the last visit were registered. Treatment efficacy was defined as the absence of retreatment with intravitreal anti-VEGF or laser during follow-up. RESULTS: A total of 38 infants (76 eyes) were included in the analysis. Twenty infants (40 eyes) completed visual acuity testing. Mean age was 6 years (IQR: 4-9). Median visual acuity was 0.8 (IQR: 0.5-1). Thirty-four eyes (85%) had good visual acuity (greater than or equal to 0.5). Thirty-seven patients (74 eyes) had cycloplegic refraction measured. Median spherical equivalent at the last visit was +0.94 (IQR: -0.25; 1.88). Treatment success rate was 96.05%. CONCLUSION: Intravitreal bevacizumab treatment showed good functional outcome in patients with high-risk ROP type 1. In our study, good response to treatment was observed with a success rate over 95%.

Vasculopatía coroidea oclusiva tras quimioterapia intraarterial: hallazgos en la RMN / Choroidal occlusive vasculopathy after intraarterial chemotherapy: MRI findings

Objetivo: Evaluar los hallazgos en las imágenes de resonancia magnética nuclear (RMN) en pacientes con vasculopatía coroidea oclusiva (VCO) tras quimioterapia intraarterial (QIA) por retinoblastoma. Métodos: Se realizó un estudio retrospectivo de 37 ojos de 34 pacientes que recibieron QIA entre 2016 y 2021 como tratamiento de primera o segunda línea del retinoblastoma intraocular. De estos pacientes, 22 recibieron quimioterapia sistémica y el resto QIA como primera línea, con melfalán (3-4mg), carboplatino (40mg) y topotecan (20mg). Los pacientes fueron examinados cada mes para observar la regresión tumoral y posibles complicaciones de los tratamientos. A los pacientes que presentaron VCO se les realizaron estudios con RMN para evaluar el grosor coroideo y la longitud del globo ocular. Resultados: Se observó VCO en cinco de los 37 ojos (13,51%), todos ellos con una coroidopatía sectorial completa con afectación foveal (grado 2). En cuatro de los cinco pacientes el grosor coroideo se vio disminuido, mientras que en tres casos el tamaño del globo afectado era claramente inferior. El control tumoral fue posible en todos los casos. Conclusiones:En esta muestra, la VCO se asocia con adelgazamiento coroideo y diminución del tamaño ocular en la RMN. Puede ser necesaria una nueva clasificación para correlacionar mejor la severidad de la coroidopatía que afecta a la fóvea. Los resultados iniciales son favorables respecto al uso de la QIA; aunque es necesaria la realización de estudios a largo plazo y una documentación exhaustiva para valorar tanto el papel de la QIA, como los efectos derivados de ella. (AU)

Purpose: To evaluate magnetic resonance imaging (MRI) findings in patients suffering choroidal occlusive vasculopathy (COV) after intra-arterial chemotherapy (IAC) for retinoblastoma. Methods: A retrospective study of 37 eyes of 34 patients receiving IAQ between 2016 to 2021 as primary or secondary treatment for retinoblastoma was conducted. Twenty-two patients received systemic chemotherapy with carboplatin, vincristine and etoposide. The rest received IAC as primary treatment. The drugs administered were melphalan (3-4mg), carboplatin (40mg) plus topotecan (20mg). The patients were examined under general anaesthesia every month to observe tumor regression and possible complications of the treatment. For the patients with COV an MRI was obtained to analyse the choroidal thickness and axial ocular length. Results: A COV was observed in 5 of the 37 eyes receiving IAC (13,51%), all of them with a complete sectorial choroidopathy not sparing the fovea (grade 2). In 4 of the 5 patients the choroidal thickness was decreased and in three cases the size of the eye which presented COV was clearly smaller than the contralateral eye. Tumor control was archived in all 5 patients. Conclusion: In our cases COV was associated with reduction of thinning of choroid and eye length in the MRI. A new classification maybe needed to correlate better with the severity of the complication affecting the fovea. Although early results generally are favorable to the use of IAC, longer follow up and scrupulous documentation of side effects will be necessary to know the true role of IAC for retinoblastoma. (AU)

Choroidal occlusive vasculopathy after intraarterial chemotherapy: MRI findings.

PURPOSE: To evaluate magnetic resonance imaging (MRI) findings in patients suffering choroidal occlusive vasculopathy (COV) after intra-arterial chemotherapy (IAC) for retinoblastoma. METHODS: A retrospective study of 37 eyes of 34 patients receiving IAQ between 2016 to 2021 as primary or secondary treatment for retinoblastoma was conducted. Twenty-two patients received systemic chemotherapy with carboplatin, vincristine and etoposide. The rest received IAC as primary treatment. The drugs administered were melphalan (3-4mg), carboplatin (40mg) plus topotecan (20mg). The patients were examined under general anaesthesia every month to observe tumor regression and possible complications of the treatment. For the patients with COV an MRI was obtained to analyse the choroidal thickness and axial ocular length. RESULTS: A COV was observed in 5 of the 37 eyes receiving IAC (13,51%), all of them with a complete sectorial choroidopathy not sparing the fovea (grade 2). In 4 of the 5 patients the choroidal thickness was decreased and in three cases the size of the eye which presented COV was clearly smaller than the contralateral eye. Tumor control was archived in all 5 patients. CONCLUSION: In our cases COV was associated with reduction of thinning of choroid and eye length in the MRI. A new classification maybe needed to correlate better with the severity of the complication affecting the fovea. Although early results generally are favorable to the use of IAC, longer follow up and scrupulous documentation of side effects will be necessary to know the true role of IAC for retinoblastoma.

Características clínicas y análisis de OCT de una serie de casos de microftalmos posterior / Clinical characteristics and OCT analysis of a case series of posterior microphthalmos

El microftalmos posterior es un cuadro poco frecuente que puede encontrarse en pacientes pediátricos con hipermetropía elevada y visión reducida. Presentamos un estudio retrospectivo de 5casos de microftalmía posterior en niños de edades comprendidas entre 4 y 13 años. Se obtuvieron los siguientes parámetros: agudeza visual, refracción bajo cicloplejía, biometría, examen en lámpara de hendidura, presión intraocular y ecografía ocular. La refracción, la longitud axial y la agudeza visual media fueron de +15,35 Dp; 16,20 mm y 0,13, respectivamente. Se examinó el fondo de ojo, se realizó tomografía de coherencia óptica y, en uno de los casos, retinografía y angiografía fluoresceínica. En todos los casos se evidenció ausencia de depresión foveal y diferentes morfotipos del pliegue papilo-macular por tomografía. Al no existir un tratamiento específico, es importante una adecuada detección, manejo y seguimiento de esta enfermedad para mejorar y mantener la visión de los pacientes y reconocer posibles complicaciones

Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5 cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was + 15.35 Dp, 16.20 mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications

Clinical characteristics and OCT analysis of a case series of posterior microphthalmos. / Características clínicas y análisis de OCT de una serie de casos de microftalmos posterior.

Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was+15.35 Dp, 16.20mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications.

Presión intraocular elevada en catarata pediátrica intervenida en un centro de referencia / Elevated intraocular pressure in paediatric cataract surgery in a reference centre

Objetivo: Estudiar la presión intraocular postoperatoria (PIOP) elevada tras la intervención de catarata pediátrica en un centro de referencia y comparar los resultados obtenidos con aquellos más relevantes de la literatura mundial. Materiales y métodos: Estudio retrospectivo observacional. Recogida de información de historias clínicas de 99 pacientes (142 ojos) operados de catarata pediátrica unilateral o bilateral entre los años 2000 y 2008. Resultados: La frecuencia de PIOP elevada (≥ 20 mmHg) fue de 79,3% en el grupo de catarata bilateral frente al 20,7% en el grupo de catarata unilateral (p = 0,032). La frecuencia de PIOP elevada entre los ojos con cirugía de catarata antes del mes de edad fue mayor, 50%, que entre los ojos en los que la cirugía de catarata se realizó después del mes de edad, 17,2% (p = 0,009). Los valores de PIOP ≥ 20mmHg se asociaron con una menor agudeza visual mejor corregida a los 5 años de la cirugía de catarata (p = 0,020). La proporción de ojos con PIOP ≥ 20 mmHg y sin lentes intraoculares fue mayor, 69%, que la proporción de ojos con PIOP ≥ 20 mmHg y lentes intraoculares, 31% (p < 0,001). Conclusiones: Un 20,4% del total de ojos estudiados presentaron PIOP elevada ≥ 20 mmHg en un periodo de seguimiento de 5 años, apareciendo con más frecuencia en aquellos con catarata bilateral que unilateral, y en ojos afáquicos que en pseudofáquicos. La elevación de la PIOP se asoció con la realización de la cirugía de la catarata a edades tempranas

Objective: To study elevated postoperative intraocular pressure (PIOP) after paediatric cataract surgery in a reference centre and to compare the results obtained with the most relevant world literature. Materials and methods: A retrospective observational study was conducted, collecting information from clinical records of 99 patients (142 eyes) operated on due to unilateral or bilateral paediatric cataracts between 2000 and 2008. Results: The proportion of eyes with PIOP ≥ 20 mmHg and bilateral cataracts was higher, 79.3%, than the proportion of eyes with PIOP ≥ 20mmHg and a unilateral cataract, 20.7% (P = .032). The proportion of eyes with PIOP ≥ 20 mmHg between the eyes with cataract surgery before one month of age was higher, 50%, than between the eyes in which the cataract surgery was performed after one month of age, 17.2% (P=.009). PIOP values ≥ 20 mmHg were associated with a lower best corrected visual acuity at 5 years after cataract surgery (P = .020). The proportion of eyes with PIOP ≥ 20 mmHg and without intraocular lenses was higher, 69%, than the proportion of eyes with PIOP ≥ 20 mmHg and intraocular lenses, 31% (P < .001). Conclusions: A PIOP > 20 mmHg was observed in 20.4% of eyes in a 5-year follow-up period, appearing more frequently in eyes with bilateral cataract than unilateral, and in aphakic eyes more than pseudophakic eyes. Elevation of the PIOP was associated with the performance of cataract surgery at early ages

Elevated intraocular pressure in paediatric cataract surgery in a reference centre. / Presión intraocular elevada en catarata pediátrica intervenida en un centro de referencia.

OBJECTIVE: To study elevated postoperative intraocular pressure (PIOP) after paediatric cataract surgery in a reference centre and to compare the results obtained with the most relevant world literature. MATERIALS AND METHODS: A retrospective observational study was conducted, collecting information from clinical records of 99 patients (142 eyes) operated on due to unilateral or bilateral paediatric cataracts between 2000 and 2008. RESULTS: The proportion of eyes with PIOP≥20mmHg and bilateral cataracts was higher, 79.3%, than the proportion of eyes with PIOP≥20mmHg and a unilateral cataract, 20.7% (P=.032). The proportion of eyes with PIOP≥20mmHg between the eyes with cataract surgery before one month of age was higher, 50%, than between the eyes in which the cataract surgery was performed after one month of age, 17.2% (P=.009). PIOP values≥20mmHg were associated with a lower best corrected visual acuity at 5 years after cataract surgery (P=.020). The proportion of eyes with PIOP≥20mmHg and without intraocular lenses was higher, 69%, than the proportion of eyes with PIOP≥20mmHg and intraocular lenses, 31% (P<.001). CONCLUSIONS: A PIOP>20mmHg was observed in 20.4% of eyes in a 5-year follow-up period, appearing more frequently in eyes with bilateral cataract than unilateral, and in aphakic eyes more than pseudophakic eyes. Elevation of the PIOP was associated with the performance of cataract surgery at early ages.

Características clínicas e histopatológicas de ojos enucleados por melanoma uveal en un hospital terciario en España / Clinical and histopathological features of choroidal melanoma-related enucleated eyes in a Spanish tertiary hospital

Objetivo: Estudiar las variables clínicas y anatomopatológicas de mal pronóstico en una muestra de pacientes con melanoma maligno de úvea que requirieron enucleación como tratamiento definitivo en un hospital terciario en Madrid (España) durante un período de tiempo de 6 años. Material y métodos: Estudio retrospectivo, observacional, longitudinal. Se analiza la presencia de factores clínicos y anatomopatológicos conocidos de mal pronóstico y otros en 30 melanomas malignos: 20 enucleados de novo (grupo A) y 10 tras recibir tratamiento con radioterapia (grupo B). Se estudia el grado de fiabilidad diagnóstica de la resonancia magnética nuclear, comparándola con la histología (gold standard) para predecir la presencia de invasión escleral y extraescleral. Resultados: El tamaño tumoral, la rotura de la membrana de Bruch, la invasión escleral y la proximidad al nervio óptico fueron los factores de mal pronóstico más determinantes. Se logró controlar la enfermedad en el 93% de los casos, con una incidencia de diseminación metastásica del 6% y una supervivencia del 100% a una media de seguimiento de 3 ± 1,5 (rango 1,2-6) años. La sensibilidad de la resonancia magnética nuclear, en nuestra población, para detectar infiltración escleral fue del 27%, y extraescleral, del 100%. Conclusiones: El análisis de los datos clínicos e histopatológicos recogidos justifican la enucleación como tratamiento final en los pacientes estudiados. La resonancia magnética nuclear no resultó un buen método de cribado para detectar la extensión escleral

Objective: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period. Materials and methods: Longitudinal observational retrospective study. The presence of clinical and pathologic factors known to be linked to poor prognosis, as well as other features, was assessed in 30 malignant melanoma: 20 de novo-enucleated malignant melanoma eyes (group A), and 10 in eyes that received radiotherapy prior to enucleation (group B). The diagnostic reliability of magnetic resonance imaging was assessed by comparing it with the histology results (gold standard) as a means to detect scleral and extra-scleral extension. Results: Tumour size, Bruch's membrane rupture, scleral infiltration, and distance to the optic nerve were the most decisive factors for a poor prognosis in the study sample. In 93% of cases the condition was under control, with a 6% incidence rate of metastatic spread and a 100% rate of overall survival for a mean follow-up period of 3 ± 1.5 (range 1.2-6) years. In the study population, the sensitivity of the magnetic resonance imaging to detect scleral infiltration was 27%, which increased to 100% for identifying extra-scleral involvement. Conclusions: The analyses of the clinical and pathological data collected within the framework of this study justify enucleation as the treatment of choice for the patients of this study. Magnetic resonance imaging was not found to be an optimum screening method to detect scleral infiltration in this study sample

Clinical and histopathological features of choroidal melanoma-related enucleated eyes in a Spanish tertiary hospital. / Características clínicas e histopatológicas de ojos enucleados por melanoma uveal en un hospital terciario en España.

OBJECTIVE: To study clinical and pathological variables leading to a poor prognosis in a sample of uveal malignant melanoma patients who required eyeball enucleation as final treatment approach. All patients were seen and treated in the same public tertiary hospital in Madrid (Spain) within a 6-year time-period. MATERIALS AND METHODS: Longitudinal observational retrospective study. The presence of clinical and pathologic factors known to be linked to poor prognosis, as well as other features, was assessed in 30 malignant melanoma: 20 de novo-enucleated malignant melanoma eyes (group A), and 10 in eyes that received radiotherapy prior to enucleation (group B). The diagnostic reliability of magnetic resonance imaging was assessed by comparing it with the histology results (gold standard) as a means to detect scleral and extra-scleral extension. RESULTS: Tumour size, Bruch's membrane rupture, scleral infiltration, and distance to the optic nerve were the most decisive factors for a poor prognosis in the study sample. In 93% of cases the condition was under control, with a 6% incidence rate of metastatic spread and a 100% rate of overall survival for a mean follow-up period of 3±1.5 (range 1.2-6) years. In the study population, the sensitivity of the magnetic resonance imaging to detect scleral infiltration was 27%, which increased to 100% for identifying extra-scleral involvement. CONCLUSIONS: The analyses of the clinical and pathological data collected within the framework of this study justify enucleation as the treatment of choice for the patients of this study. Magnetic resonance imaging was not found to be an optimum screening method to detect scleral infiltration in this study sample.

Uveítis complicada en artritis idiopática juvenil psoriásica de inicio tardío / Complicated uveitis in late onset juvenile idiopathic psoriatic arthritis

CASO CLÍNICO: Niña de 6 años con artritis psoriásica juvenil (APJ) y uveítis anterior bilateral complicada, presentó múltiples complicaciones que requirieron 5 procedimientos quirúrgicos. Pese al curso agresivo de la inflamación ocular, conservó una buena agudeza visual. La artritis (necesaria para el diagnóstico de APJ) apareció años después de los síntomas oculares y mostró buena respuesta inicial al adalimumab. DISCUSIÓN: El diagnóstico definitivo de APJ fue realizado años después del inicio de los síntomas. Además, la paciente conservó buena agudeza visual a pesar de su complicada evolución. Finalmente, mostró una respuesta clínica satisfactoria a la terapia con inhibidores del factor de necrosis tumoral

CASE REPORT: A 6 year-old girl with juvenile psoriatic arthritis (JPsA) and bilateral complicated anterior uveitis developed several ocular complications that required 5 surgical procedures. Despite the aggressive course of ocular inflammation, her visual acuity remained good. Arthritis (main criterion for the diagnosis of JPsA) appeared years after ocular involvement. She showed a good anti-tumour necrosis factor initial response. DISCUSSION: The definitive diagnosis of JPsA was established years after the onset of symptoms. In addition, the patient maintained a good visual acuity, despite its complicated disease course. Finally, she showed a good clinical response to adalimumab

Complicated uveitis in late onset juvenile idiopathic psoriatic arthritis.

CASE REPORT: A 6 year-old girl with juvenile psoriatic arthritis (JPsA) and bilateral complicated anterior uveitis developed several ocular complications that required 5 surgical procedures. Despite the aggressive course of ocular inflammation, her visual acuity remained good. Arthritis (main criterion for the diagnosis of JPsA) appeared years after ocular involvement. She showed a good anti-tumour necrosis factor initial response. DISCUSSION: The definitive diagnosis of JPsA was established years after the onset of symptoms. In addition, the patient maintained a good visual acuity, despite its complicated disease course. Finally, she showed a good clinical response to adalimumab.

Genetic analysis in retinoblastoma and peripheral blood correlation.

OBJECTIVE: To determine the importance of intratumoral genetic analysis in the diagnosis of germ-line mutations in patients with retinoblastoma. To underline the importance of performing these genetic tests in every case of retinoblastoma. METHOD: Intratumoral genetic analysis of RB1 mutation was performed on 17 enucleated eyes that were non-responsive to conservative treatment. Patients had no family history of retinoblastoma, and lesions were always single. The identified mutations were then also studied in peripheral blood analysis. RESULTS: There were 12 (70.6%) cases with positive results in intratumoral analysis. In 8 cases (47.1%) mutation of both RB1 alelli were detected, and in 4 (23.5%) cases only one allele was found mutated. In 5 patients (29.4%) no mutation was identified. In the first hit, mutations comprised 7 frameshift or nonsense and 2 splice, whereas in the second hit, one splice mutation, 2 nonsense and 8 loss of heterozygosity were identified. Among 6 patients where intratumoral analysis detected a single mutation associated with a loss of heterozygosity, the peripheral blood analysis was able to detect the same mutation in 3 cases (50%). CONCLUSIONS: Intratumoral genetic analysis of sporadic retinoblastoma can detect germ-line mutations. These patients are at higher risk of bilateralization and development of second tumors or trilateral retinoblastoma. Genetic screening is recommended in every patient diagnosed with retinoblastoma.

Punto de Mittendorf atípico y catarata cerúlea / Atypical Mittendorf's dot and cerulean cataract

No disponible

[Genetic analysis results of patients with a retinoblastoma refractory to systemic chemotherapy]. / Resultados del analisis genético de los pacientes con retinoblastoma resistente a quimioterapia sistémica.

OBJECTIVE: To analyze the genetic alterations identified in the RB1 gene in retinoblastoma patients who do not respond to systemic chemotherapy. METHODS: A genetic analysis was performed on 115 patients with retinoblastoma, 40 of whom had received systemic chemotherapy, and 29 of them had bilateral disease. Descriptive and retrospective study. Non-responders were considered as patients who are finally enucleated. RESULTS: Patients with deletion type mutations are those with less preservation of the eyeball (Pearson Chi-square, P=.055). Patients with an impaired nonsense-frameshift type are more likely to preserve the eyeball. Of the 3 patients who had undergone bilateral enucleation, 2 of them had deletions and one missense alteration. Survival analysis (Kaplan-Meier curve) shows that patients with deletion type mutations are more resistance to chemotherapy, are suffering higher rates of enucleation, and for a shorter period of time (log rank [Mantel-Cox] with a significance level of P=.053), which are also associated with increased rate of being bilateral. CONCLUSIONS: Patients with a genotype show increased resistance to chemotherapy should be evaluated more closely and treated with various therapeutic weapons early. Patients that have deletions in the RB1 gene are at increased risk of chemoresistance. It is likely that other genetic alterations other than RB1 gene may be related to tumor aggressiveness and treatment resistance.

Fiabilidad en el cribado de la retinopatía del prematuro mediante el análisis de retinografías / Reliability of retinal imaging screening in retinopathy of prematurity

INTRODUCCIÓN: La retinopatía del prematuro (ROP) es una de las principales causas de ceguera infantil potencialmente evitable. Los avances en los cuidados neonatales consiguen la supervivencia de niños de bajo peso extremo asociado con una mayor incidencia de la enfermedad. El objetivo de este estudio es evaluar la fiabilidad en el diagnóstico de la ROP a través de retinografías obtenidas con la cámara de campo amplio RetCam3 y estudiar la variabilidad en el diagnóstico de ROP en función del evaluador. MATERIAL Y MÉTODOS: El examen con oftalmoscopio indirecto fue realizado por un oftalmólogo pediátrico experto en ROP. Las imágenes retinianas fueron obtenidas por el mismo oftalmólogo y un técnico especializado en la captura de imágenes digitales. Un total de 30sets de imágenes fueron analizados por 3 grupos enmascarados: grupo A (8 oftalmólogos), grupo B (5 expertos en visión) y grupo C (2 oftalmólogos expertos en ROP). RESULTADOS: Acorde con el diagnóstico mediante oftalmoscopia indirecta, la sensibilidad (26-93), el índice Kappa (0,24-0,80) y el porcentaje de aciertos fueron estadísticamente significativos en el grupo C para el diagnóstico de ROP tipo1. En el diagnóstico de ROP tipo1+tipo2 el índice Kappa (0,17-0,33) y el porcentaje de aciertos (58-90) fueron estadísticamente significativos, obteniendo valores superiores en el grupo C. CONCLUSIONES: El diagnóstico realizado por oftalmólogos expertos en ROP con el retinógrafo móvil RetCam3 ha demostrado ser un método fiable

INTRODUCTION: The retinopathy of prematurity (ROP) is a potentially avoidable cause of blindness in children. The advances in neonatal care make the survival of extremely premature infants, who show a greater incidence of the disease, possible. The aim of the study is to evaluate the reliability of ROP screening using retinography imaging with the RetCam3 wide-angle camera and also study the variability of ROP diagnosis depending on the evaluator. MATERIAL AND METHODS: The indirect ophthalmoscopy exam was performed by a Pediatric ROP-Expert Ophthalmologist. The same ophthalmologist and a technician specialized in digital image capture took retinal images using the RetCam3 wide-angle camera. A total of 30image sets were analyzed by 3 masked groups: group A (8 ophthalmologists), group B (5 experts in vision), and group C (2 ROP-expert ophthalmologists). RESULTS: According to the diagnosis using indirect ophthalmoscopy, the sensitivity (26-93), Kappa (0.24-0.80), and the percent agreement were statistically significant in group C for the diagnosis of ROP Type1. In the diagnosis of ROP Type1+Type2, Kappa (0.17-0.33) and the percent agreement (58-90) were statistically significant, with higher values in group C. CONCLUSION: The diagnosis, carried out by ROP-expert ophthalmologists, using the wide-angle camera RetCam3 has proved to be a reliable method

[Reliability of retinal imaging screening in retinopathy of prematurity]. / Fiabilidad en el cribado de la retinopatía del prematuro mediante el análisis de retinografías.

INTRODUCTION: The retinopathy of prematurity (ROP) is a potentially avoidable cause of blindness in children. The advances in neonatal care make the survival of extremely premature infants, who show a greater incidence of the disease, possible. The aim of the study is to evaluate the reliability of ROP screening using retinography imaging with the RetCam 3 wide-angle camera and also study the variability of ROP diagnosis depending on the evaluator. MATERIAL AND METHODS: The indirect ophthalmoscopy exam was performed by a Pediatric ROP-Expert Ophthalmologist. The same ophthalmologist and a technician specialized in digital image capture took retinal images using the RetCam 3 wide-angle camera. A total of 30 image sets were analyzed by 3 masked groups: group A (8 ophthalmologists), group B (5 experts in vision), and group C (2 ROP-expert ophthalmologists). RESULTS: According to the diagnosis using indirect ophthalmoscopy, the sensitivity (26-93), Kappa (0.24-0.80), and the percent agreement were statistically significant in group C for the diagnosis of ROP Type 1. In the diagnosis of ROP Type 1+Type 2, Kappa (0.17-0.33) and the percent agreement (58-90) were statistically significant, with higher values in group C. CONCLUSION: The diagnosis, carried out by ROP-expert ophthalmologists, using the wide-angle camera RetCam 3 has proved to be a reliable method.

[Trilateral retinoblastoma. Correlation between the genetic anomalies of the RB1 gene and the presence of pineal gland cysts]. / Retinoblastoma trilateral. Correlación de las alteraciones genéticas del gen RB1 y la presencia de quistes de la glándula pineal.

OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones. It is more common to find a germinal mutation in patients with bilateral disease (P=.024). There are no significant differences in the type of anomaly identified, although the nonsense-frameshift type is more frequent in cases with bilateral involvement. Identification of the genetic anomaly is more frequent in patients who have pineal cysts (Fisher test; P=.490). Nine of the 17 patients received systemic chemotherapy (52.29% of the cases), which could be able to prevent the development of PNET. Although a certain trend was observed in all the mentioned parameters, there was a relationship between, the presence of pineal cysts and bilateral disease (Pearson Chi X2: P=.191), a known family history (Fisher test; P=.114) and age of early diagnosis (Fisher test; P=.114). There were no significant differences in the mutation type identified. CONCLUSIONS: Considering pineal cysts as a pre-malignant form of pinealoblastoma, we found a relationship between the germinal line mutation of the RB1 gene and the cases with bilateral or unilateral retinoblastoma.

[A protocol for the treatment of retinopathy of prematurity in Spain]. / Protocolo de tratamiento de la retinopatía del prematuro en España.

OBJECTIVE: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. MATERIAL AND METHOD: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. RESULTS: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. CONCLUSIONS: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.