La prematuridad: un antecedente de obligada consideración a la hora de valorar el complejo de células ganglionares de la retina / Prematurity: a medical history of obligatory consideration when assessing the retinal ganglion cell complex

Introducción: La supervivencia de los niños prematuros es cada vez más frecuente siendo cada vez más habitual encontrar pacientes con este antecedente en las consultas de oftalmología. El parto prematuro puede conllevar cambios estructurales a nivel ocular, pudiéndose afectar entre otras estructuras el complejo de células ganglionares (CCG), que puede ser estudiado mediante la tomografía de coherencia óptica.Materiales y métodosRealizar una revisión bibliográfica de los estudios que analizan el CCG en pacientes con antecedente de prematuridad y lo comparan con pacientes nacidos a término.ResultadosSe referencian varios estudios que analizan el CCG en población con antecedente de prematuridad y se estudian los distintos resultados obtenidos.ConclusionesEn nuestra práctica clínica, conocer el antecedente de prematuridad es fundamental en la valoración del CCG medido por tomografía de coherencia óptica ya que el grosor de esta capa es distinta en la población con antecedente de prematuridad comparada con la población a término. (AU)

Introduction: Premature children birth and survival is becoming more frequent due to the improvement in obstetric and neonatal care. This makes it increasingly common to find patients with history of preterm birth in ophthalmology clinics, both in pediatric and adult ages. Premature birth can lead to ocular structural changes, being possible to affect the ganglion cell complex (GCC), among other structures, which can be studied using optical coherence tomography.Materials and methodsTo carry out a bibliographic review of the studies that analyze GCC in patients with a history of prematurity compared with patients born at term.ResultsSeveral studies that analyze GCC in patients with a history of prematurity are referenced and their results are studied.ConclusionsIn our clinical practice, knowing the history of prematurity is fundamental in the assessment of GCC measured by optical coherence tomography, since this layer is different in the patients with a history of prematurity compared to patients born at term. (AU)

Prematurity: A medical history of obligatory consideration when assessing the retinal ganglion cell complex.

INTRODUCTION: Premature children birth and survival is becoming more frequent due to the improvement in obstetric and neonatal care. This makes it increasingly common to find patients with history of preterm birth in ophthalmology clinics, both in pediatric and adult ages. Premature birth can lead to ocular structural changes, being possible to affect the ganglion cell complex (GCC), among other structures, which can be studied using optical coherence tomography. MATERIALS AND METHODS: To carry out a bibliographic review of the studies that analyze GCC in patients with a history of prematurity compared with patients born at term. RESULTS: Several studies that analyze GCC in patients with a history of prematurity are referenced and their results are studied. CONCLUSIONS: In our clinical practice, knowing the history of prematurity is fundamental in the assessment of GCC measured by optical coherence tomography, since this layer is different in the patients with a history of prematurity compared to patients born at term.

Manifestaciones oftalmológicas en 6 pacientes con síndrome de Williams-Beuren y revisión de la literatura / Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review

Se revisó la historia clínica de 6 pacientes diagnosticados de síndrome de Williams-Beuren en la edad pediátrica. Todos los pacientes presentaron la facies de elfo característica y anomalías cardiovasculares. Todos presentaron buena agudeza visual, excepto un caso de ambliopía unilateral. El error refractivo más frecuente fue la hipermetropía (n=6; 100%) y el astigmatismo (n=5; 83,3%). En 2 pacientes se encontraron alteraciones de la motilidad ocular (un caso de exoforia con hiperfunción de oblicuo inferior derecho y otro de endotropía congénita con hiperfunción del oblicuo inferior bilateral). Cognitivamente un 66,7% (n=4) tenía alteraciones visoperceptivas. Otros hallazgos fueron epicantus (n=6; 100%) y obstrucción congénita del conducto nasolagrimal con epífora unilateral (n=1; 16,7%). El síndrome de Williams-Beuren es un trastorno poco frecuente con manifestaciones oftalmológicas y sistémicas complejas. Por ello, es recomendable realizar un seguimiento oftalmológico a estos niños (AU)

Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n=6; 100%) and astigmatism (n=5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n=4) had visoperceptive disorders. Other findings were epicanthus (n=6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n=1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended (AU)

Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.

Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n = 6; 100%) and astigmatism (n = 5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n = 4) had visoperceptive disorders. Other findings were epicanthus (n = 6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n = 1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended.

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations. A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations. Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma. Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Displasia septoóptica: alteraciones oftalmológicas en una serie de 5 casos / Septo-optic dysplasia: ophthalmological abnormalities in a series of 5 cases

La displasia septoóptica (DSO) es una entidad congénita, rara, de causa desconocida, con una tríada característica que incluye hipoplasia de nervio óptico, anomalías en la función hipofisaria y defectos en la línea media cerebral, además de un amplio espectro de manifestaciones y asociaciones.Se presenta una serie de cinco casos clínicos, de los cuales cuatro presentaron la tríada clásica completa. Todos mostraron gran variedad de alteraciones oftalmológicas, endocrinológicas y neurológicas.Dentro del espectro oftalmológico de la DSO, destacan la hipoplasia papilar y las alteraciones de la motilidad ocular (nistagmos estrabismo). También pueden aparecer otras menos frecuentes, como son alteraciones pupilares, microftalmia y coloboma.Ante la sospecha de DSO, conviene realizar una resonancia magnética cerebral y una interconsulta con el servicio de pediatría para completar el estudio e indicar, si fuera preciso, tratamiento sistémico.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations.A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations.Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma.Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Microftalmia bilateral asociada con quistes orbitarios. Manejo individualizado según el potencial visual. Reporte de caso clínico / Bilateral microphthalmos with bilateral orbital cysts: individualising the treatment according to the visual potential. A case report

Niño de tres meses diagnosticado de microftalmia y quistes orbitarios bilaterales. En la resonancia magnética se objetivó una microftalmia bilateral con quiste moderado en ojo derecho (OD) y quiste severo en ojo izquierdo. La exploración sugería un posible potencial visual del OD. Se decidió solo observación. A los dos años, la exploración mostraba una disminución significativa de los quistes con una agudeza visual de movimiento de manos gracias a la visión residual del OD. La microftalmia con quistes orbitarios es una anomalía congénita rara. Los quistes tienden a crecer con el tiempo. Actualmente no existe un protocolo estandarizado de manejo de esta enfermedad. A diferencia de nuestro caso, la agudeza visual en estos pacientes es normalmente de no percepción de la luz. La observación puede ser una alternativa terapéutica en casos severos ya que existe la posibilidad de una disminución, desplazamiento o regresión espontánea de los quistes

The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye. Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts

Bilateral microphthalmos with bilateral orbital cysts: individualising the treatment according to the visual potential. A case report. / Microftalmia bilateral asociada con quistes orbitarios. Manejo individualizado según el potencial visual. Reporte de caso clínico.

The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye. Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts.

Bases de datos normativas en edad pediátrica para tomografía de coherencia óptica: una clara necesidad / Paediatric optical coherence tomography normative databases: A real need

INTRODUCCIÓN: La tomografía de coherencia óptica (OCT) se ha convertido en una herramienta imprescindible en las consultas de oftalmología pediátrica. Sin embargo, las OCT disponibles en la actualidad no incluyen ninguna base de datos normativa para población pediátrica, lo que puede conllevar errores importantes de interpretación. OBJETIVO: Realizar una revisión bibliográfica sobre las bases de datos normativas para OCT realizadas en población pediátrica. MATERIAL Y MÉTODOS: Se revisan las aplicaciones e implicaciones del uso de las bases de datos normativas pediátricas para OCT. RESULTADOS: Se referencian varios estudios realizados para extraer estas bases de datos con diferentes modelos de OCT en población española y europea con el fin de disponer de ellos de manera resumida. CONCLUSIONES: En nuestra práctica clínica diaria es muy importante el conocimiento y manejo de las bases de datos normativas pediátricas para la correcta interpretación de los mapas de grosores de OCT

INTRODUCTION: Optical coherence tomography (OCT) has become an essential tool in paediatric ophthalmology. However, none of the currently available OCT devices include any kind of normative database for the paediatric population, which can lead to important interpretation errors. OBJECTIVE: To review the paediatric OCT normative databases. MATERIAL AND METHODS: The applications and implications of the use of paediatric OCT normative databases are reviewed. RESULTS: The paediatric normative databases that have been published so far in scientific literature with different OCT devices for Spanish and European population are presented. CONCLUSIONS: The knowledge and interpretation of paediatric OCT normative databases in our daily clinical practice is crucial in order for the correct interpretation of OCT thickness maps

Paediatric optical coherence tomography normative databases: A real need. / Bases de datos normativas en edad pediátrica para tomografía de coherencia óptica: una clara necesidad.

INTRODUCTION: Optical coherence tomography (OCT) has become an essential tool in paediatric ophthalmology. However, none of the currently available OCT devices include any kind of normative database for the paediatric population, which can lead to important interpretation errors. OBJECTIVE: To review the paediatric OCT normative databases. MATERIAL AND METHODS: The applications and implications of the use of paediatric OCT normative databases are reviewed. RESULTS: The paediatric normative databases that have been published so far in scientific literature with different OCT devices for Spanish and European population are presented. CONCLUSIONS: The knowledge and interpretation of paediatric OCT normative databases in our daily clinical practice is crucial in order for the correct interpretation of OCT thickness maps.

Función visual y deficiencia visual cerebral (cerebral visual impairment) en niños. La importancia de entenderla y atenderla / Visual function and CVI in children (cerebral visual impairment): The importance of understanding and treating it

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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.

Estudio comparativo de RetCam II frente a oftalmoscopia binocular en el cribado de la retinopatía de la prematuridad / Comparative study of RetCamRetCam II vs. binocular ophthalmoscopy in a screening program for retinopathy of prematurity

OBJETIVO: Conocer el grado la utilidad de la RetCam como alternativa a la oftalmoscopia binocular (BIO) en el cribado de la retinopatía de la prematuridad (ROP). MÉTODOS: Estudio observacional prospectivo comparativo. Se realizaron un total de 169 exámenes con RetCam II en 83 niños prematuros participantes en un programa de cribado de la ROP, exámenes que fueron almacenados en un archivo para análisis posterior. Un oftalmólogo altamente cualificado evaluó el fondo usando el oftalmoscopio binocular indirecto. El examinador evaluó posteriormente las fotografías en busca de la presencia o ausencia de ROP, la zona y el grado de la enfermedad, y la presencia o ausencia de enfermedad plus. Estos datos fueron comparados con los resultados de oftalmoscopio binocular indirecto para determinar la sensibilidad, especificidad y los valores predictivos positivo (VPP) y negativo (VPN) del método. RESULTADOS: Fue detectada ROP con oftalmoscopio binocular indirecto (BIO) en 108 ojos; en la exploración con RetCam se detectó ROP en 74 ojos. De los 306 ojos examinados con RetCam, se hallaron falsos negativos en 34 ojos y ningún falso positivo. La sensibilidad de RetCam fue de 0,68 y la especificidad del 0,99. El VPP fue de 0,93 y el VPN fue de 0,85. Treinta y cuatro casos de ROP no fueron diagnosticados por la RetCam. Todos estos casos fueron en la zona III o la zona II anterior, todas en grado leve y con mejoría espontánea. Ningún caso de ROP umbral se perdió. CONCLUSIÓN: Aunque el oftalmoscopio binocular indirecto continúa siendo el método gold standard para el diagnóstico de la ROP, la RetCam ofrece una alternativa al oftalmoscopio binocular indirecto para el cribado de la ROP

OBJECTIVE: To determine the performance of RetCam vs. binocular ophthalmoscopy (BIO) in a screening program for retinopathy of prematurity (ROP). METHODS: Observational comparative study with prospective data collection. Examinations with RetCam (n = 169) were performed on 83 infants included in a screening program for ROP and stored for analysis at a later stage. An experienced ophthalmologist examined the ocular fundus with binocular indirect ophthalmoscopy (BIO). The RetCam images were assessed for the presence of ROP, zone, grade, and presence of plus disease. RetCam and BIO data were compared by visually to estimate sensitivity, specificity, positive (VPP) and negative (VPN) predictive values. RESULTS: ROP disease was detected in 108 eyes with BIO, and in 74 with RetCam. Out of 306 eyes examined with RetCam, false negative results were found in 34 eyes, with no false positives. Sensitivity of RetCam exam vs. BIO was 0.68, and specificity was 0.99. Positive predictive value was 0.93 and negative predictive value was 0.85. All 34 ROP cases not detected with RetCam were in zone III or outer zone II. They were all mild and regressed spontaneously. No threshold ROP was missed with RetCam. CONCLUSION: Binocular indirect ophthalmoscopy is the reference method for the diagnosis of ROP. RetCam may be used as an alternative for ROP screening

Comparative study of RetCamRetCam II vs. binocular ophthalmoscopy in a screening program for retinopathy of prematurity.

OBJECTIVE: To determine the performance of RetCam vs. binocular ophthalmoscopy (BIO) in a screening program for retinopathy of prematurity (ROP). METHODS: Observational comparative study with prospective data collection. Examinations with RetCam (n=169) were performed on 83 infants included in a screening program for ROP and stored for analysis at a later stage. An experienced ophthalmologist examined the ocular fundus with binocular indirect ophthalmoscopy (BIO). The RetCam images were assessed for the presence of ROP, zone, grade, and presence of plus disease. RetCam and BIO data were compared by visually to estimate sensitivity, specificity, positive (VPP) and negative (VPN) predictive values. RESULTS: ROP disease was detected in 108 eyes with BIO, and in 74 with RetCam. Out of 306 eyes examined with RetCam, false negative results were found in 34 eyes, with no false positives. Sensitivity of RetCam exam vs. BIO was 0.68, and specificity was 0.99. Positive predictive value was 0.93 and negative predictive value was 0.85. All 34 ROP cases not detected with RetCam were in zone III or outer zone II. They were all mild and regressed spontaneously. No threshold ROP was missed with RetCam. CONCLUSION: Binocular indirect ophthalmoscopy is the reference method for the diagnosis of ROP. RetCam may be used as an alternative for ROP screening.

[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.

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

Objetivo: Realizar un protocolo de tratamiento de la retinopatía del prematuro (ROP) consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el tratamiento de la ROP, incluyendo criterios de tratamiento, metodología de actuación, calendario de actuación y seguimiento. Conclusiones: Es importante disponer de un protocolo de actuación común en el tratamiento de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica, es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

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 (AU)

Programa de cribado para la retinopatía del prematuro en España / Screening program for retinopathy of prematurity in Spain

Objetivo: Realizar un protocolo de cribado de la retinopatía del prematuro (ROP), consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el cribado de la ROP, incluyendo criterios de inclusión y exclusión, metodología de exploración y calendario de actuación. Conclusiones: Es importante disponer de un protocolo de actuación común en el cribado de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)

Objective: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most 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 current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. Results: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. Conclusions: It is important to have a common working protocol in the screening of ROP to improve the action 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 (AU)

Screening program for retinopathy of prematurity in Spain.

OBJECTIVE: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. MATERIALS AND METHODS: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. RESULTS: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. CONCLUSIONS: It is important to have a common working protocol in the screening of ROP to improve the action 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.

Aclaraciones sobre el artículo «Sarcoidosis simulando una histiocitosis no Langerhans, tratada con antagonistas del factor de necrosis tumoral» / Clarifications on the article ‘‘Sarcoidosis simulating a non-Langerhans cell histiocytosis, treated with tumour necrosis factor antagonists’’

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