Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.

Background: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the NHS gene. Clinical manifestations include congenital cataracts, facial and dental dysmorphism and, in some cases, intellectual disability. The aim of the present work was to identify the genetic cause of this disease in two unrelated Spanish NHS families and to determine the relative involvement of this gene in the pathogenesis.Materials and methods: Four members of a two-generation family, three males and one female (Family 1), and seven members of a three-generation family, two males and five females (Family 2) were recruited and their index cases were screened for mutations in the NHS gene and 26 genes related with ocular congenital anomalies by NGS (Next Generation Sequencing).Results: Two pathogenic variants were found in the NHS gene: a nonsense mutation (p.Arg373X) and a frameshift mutation (p.His669ProfsX5). These mutations were found in the two unrelated NHS families with different clinical manifestations.Conclusions: In the present study, we identified two truncation mutations (one of them novel) in the NHS gene, associated with NHS. Given the wide clinical variability of this syndrome, NHS may be difficult to detect in individuals with subtle clinical manifestations or when congenital cataracts are the primary clinical manifestation which makes us suspect that it can be underdiagnosed. Combination of genetic studies and clinical examinations are essential for the clinical diagnosis optimization.

Membrana neovascular asociada a drusas del nervio óptico en edad pediátrica: a propósito de un caso / Optic nerve head drusen associated with neovascular membrane in a child: a case report

Objetivo: Describir los resultados anatómicos y funcionales obtenidos en un caso de neovascularización coroidea asociada a drusas papilares tras tratamiento antiangiogénico intravítreo. Caso clínico: Paciente varón de 8 años con diagnóstico de membrana neovascular en ojo derecho asociada a drusas papilares bilaterales. La agudeza visual al comienzo fue de cuenta dedos, mejorando hasta 0,4 tras tratamiento antiangiogénico. Se obtuvo una consolidación completa de la lesión sin complicaciones asociadas derivadas del tratamiento. Discusión/Conclusiones: El empleo de terapia antiangiogénica ha resultado efectivo y no se han evidenciado efectos secundarios en el tratamiento de membrana neovascular asociada a drusas en edad pediátrica

Purpose: To describe the anatomical and functional results of intravitreal antiangiogenic treatment in optic nerve head drusen associated with choroidal neovascularisation. Case report: An 8 year-old male patient with a diagnosis of neovascular membrane in the right eye associated with bilateral optic nerve head drusen. Best-corrected visual acuity (BCVA) was by counting fingers in the right eye and improved to 0.4 after antiangiogenic treatment. A complete consolidation of the lesion was observed with no associated complications arising from the treatment. Discussion/Conclusions: Antiangiogenic treatment is an effective option, and no side-effects have been observed in treatment of neovascular tissue associated with optic disc drusen in children

Optic nerve head drusen associated with neovascular membrane in a child: a case report. / Membrana neovascular asociada a drusas del nervio óptico en edad pediátrica: a propósito de un caso.

PURPOSE: To describe the anatomical and functional results of intravitreal antiangiogenic treatment in optic nerve head drusen associated with choroidal neovascularisation. CASE REPORT: An 8 year-old male patient with a diagnosis of neovascular membrane in the right eye associated with bilateral optic nerve head drusen. Best-corrected visual acuity (BCVA) was by counting fingers in the right eye and improved to 0.4 after antiangiogenic treatment. A complete consolidation of the lesion was observed with no associated complications arising from the treatment. DISCUSSION/CONCLUSIONS: Antiangiogenic treatment is an effective option, and no side-effects have been observed in treatment of neovascular tissue associated with optic disc drusen in children.

Telangiectasias maculares idiopáticas de tipo 2: prevalencia en nuestra área y estudio morfométrico y fenotípico / Idiopathic macular telangiectasia type 2: Prevalence and a morphometric and phenotypic study

Objetivo: Las telangiectasias maculares idiopáticas de tipo 2 (MacTel 2) son una enfermedad retiniana poco frecuente y aún no completamente caracterizada. El objetivo del presente trabajo es describir las características clínicas en imagen multimodal de la retina, presentar los resultados funcionales y estimar la prevalencia de la enfermedad en nuestro medio. Métodos: Estudio retrospectivo en el que se analizaron 12 ojos de 6 pacientes con MacTel 2. Se realizaron fotografías en color de fondo, autofluorescencia, angiografía fluoresceínica, tomografía de coherencia óptica (OCT) y angiografía por OCT y se analizaron posteriormente. Se registró prospectivamente la agudeza visual. La prevalencia se estableció en base en los pacientes referidos a una unidad especializada en enfermedades maculares. El período mínimo de seguimiento fue de 18 meses. Resultados: La prevalencia de MacTel2 en nuestro medio fue de 0,12%. Se presentaron las características clínicas en imagen multimodal de la retina. La agudeza visual permaneció estable durante el seguimiento (p = 0,492). Tres pacientes desarrollaron neovascularización coroidea (NVC), requiriendo tratamiento intravítreo con agentes antiangiogénicos. Conclusiones: La prevalencia de la enfermedad en nuestro medio es del 0,12%. El estudio mediante imágenes multimodales permite un diagnóstico y seguimiento de esta patología más preciso. La agudeza visual se mantuvo durante los 18 meses de seguimiento. Los pacientes que desarrollan NVC y son tratados con agentes antiangiogénicos parecen responder adecuadamente a ellos. Se necesitan más estudios para establecer estas conclusiones (AU)

Objective: Type 2 idiopathic macular telangiectasia (MacTel2) is a rare retinal disease that has still not been well-defined. The aim of the present manuscript is to describe the clinical features by multimodal retinal imaging, to present the functional characteristics, and to estimate the prevalence of the disease. Methods: A retrospective study was conducted on the 12 eyes of 6 patients with MacTel2. Fundus colour photographs, fundus autofluorescence, fluorescein angiography, optical coherence tomography (OCT), and OCT-angiography were performed and subsequently analysed. Visual acuity (VA) was prospectively recorded. The prevalence was established based on the patients referred to a specialised macular diseases unit. Minimum follow-up period was 18 months. Results: Prevalence of MacTel 2 in our study was 0.12%. Clinical features were presented using multimodal retinal imaging. VA remained stable during follow-up. Three patients developed choroidal neovascularisation (CNV), requiring intravitreal treatment with antiangiogenic agents. Conclusions: The prevalence of the disease found was 0.12%. The study using multimodal imaging allows a more accurate diagnosis and follow-up of this pathology. The VA is maintained during the 18-month follow-up (P = .492). Patients who develop CNV and are treated with antiangiogenic agents appear to respond adequately to them. More studies are needed to establish these conclusions (AU)

Tocilizumab as first treatment option in optic neuropathy secondary to Graves' orbitopathy.

Dysthyroid optic neuropathy (DON) is one of the complications that can affect Graves' orbitopathy (GO) patients. Its prevalence is estimated at less than 5%. It is usually treated with intravenous steroids, radiotherapy or orbital decompression. Tocilizumab has been proposed as a treatment option in cases of GO refractory to steroid treatment, with good clinical results. Our aim is to report the case of a patient with optic neuropathy secondary to GO treated with tocilizumab as primary treatment option.

Idiopathic macular telangiectasia type 2: Prevalence and a morphometric and phenotypic study. / Telangiectasias maculares idiopáticas de tipo 2: prevalencia en nuestra área y estudio morfométrico y fenotípico.

OBJECTIVE: Type 2 idiopathic macular telangiectasia (MacTel2) is a rare retinal disease that has still not been well-defined. The aim of the present manuscript is to describe the clinical features by multimodal retinal imaging, to present the functional characteristics, and to estimate the prevalence of the disease. METHODS: A retrospective study was conducted on the 12 eyes of 6 patients with MacTel2. Fundus colour photographs, fundus autofluorescence, fluorescein angiography, optical coherence tomography (OCT), and OCT-angiography were performed and subsequently analysed. Visual acuity (VA) was prospectively recorded. The prevalence was established based on the patients referred to a specialised macular diseases unit. Minimum follow-up period was 18 months. RESULTS: Prevalence of MacTel 2 in our study was 0.12%. Clinical features were presented using multimodal retinal imaging. VA remained stable during follow-up. Three patients developed choroidal neovascularisation (CNV), requiring intravitreal treatment with antiangiogenic agents. CONCLUSIONS: The prevalence of the disease found was 0.12%. The study using multimodal imaging allows a more accurate diagnosis and follow-up of this pathology. The VA is maintained during the 18-month follow-up (P=.492). Patients who develop CNV and are treated with antiangiogenic agents appear to respond adequately to them. More studies are needed to establish these conclusions.

Oclusión venosa retiniana en pacientes jóvenes y estudio sistémico. Caso clínico y revisión de la literatura / Systematic study of retinal vein occlusion in young patients. Case report and review of the literature

OBJETIVO: Presentar el caso de una mujer joven con oclusión venosa retiniana (OVR) y mutación heterocigota de la protrombina, y revisar la evidencia científica actual acerca del estudio diagnóstico sistémico en casos de OVR en pacientes jóvenes. MÉTODOS: Se realizó una búsqueda exhaustiva de la literatura en PubMed. CONCLUSIÓN: Los factores de riesgo de la OVR pueden tener diferente importancia dependiendo de cada grupo de edad. En el estudio diagnóstico sistémico se recomienda buscar factores de riesgo «emergentes» en los casos de pacientes jóvenes, afectación bilateral o ausencia de factores de riesgo «clásicos»

PURPOSE: To report the case of a young woman with retinal vein occlusion and prothrombin heterozygous mutation, and to review the current evidence on the systematic study in cases of retinal vein occlusion (RVO) in young patients. METHODS: Eligible articles were identified using a comprehensive literature search of PubMed. CONCLUSION: RVO risk factors may have different relevance depending on each age group. In the systematic study of cases in young patients, it is recommended to look for «emerging» risk factors, bilateral involvement, or absence of «classic» risk factors

Systematic study of retinal vein occlusion in young patients. Case report and review of the literature.

PURPOSE: To report the case of a young woman with retinal vein occlusion and prothrombin heterozygous mutation, and to review the current evidence on the systematic study in cases of retinal vein occlusion (RVO) in young patients. METHODS: Eligible articles were identified using a comprehensive literature search of PubMed. CONCLUSION: RVO risk factors may have different relevance depending on each age group. In the systematic study of cases in young patients, it is recommended to look for "emerging" risk factors, bilateral involvement, or absence of "classic" risk factors.

Resultados de aflibercept en degeneración macular asociada a la edad refractaria a ranibizumab / Aflibercept in exudative age related macular degeneration refractory to ranibizumab

OOBJETIVO: El objetivo de este estudio es analizar la efectividad, seguridad y costes de aflibercept en el tratamiento de la degeneración macular relacionada con la edad (DMAE) refractaria al ranibizumab. MÉTODOS: Estudio observacional retrospectivo en el que se incluyó a pacientes diagnosticados de DMAE húmeda tratados previamente con ranibizumab. Las variables de eficacia evaluadas fueron cambios en la agudeza visual corregida (AV) y mejoras anatómicas en el ojo más afectado. Se estudiaron factores asociados a la mejora de la AV con aflibercept. Se recogieron los eventos adversos relacionados con el tratamiento. El análisis de costes se realizó desde la perspectiva del hospital, teniendo en cuenta solo los costos médicos directos. El análisis coste-efectividad respecto a la terapia previa con ranibizumab se calculó mediante el coste del tratamiento y la efectividad del tratamiento calculada como AV ganada. RESULTADOS: Se incluyeron un total de 50 ojos correspondientes a 46 pacientes, con una mediana de seguimiento de 4,6 meses (rango: 1,0-6,0). El porcentaje de ojos tratados que mostraron una mejora en la AV después de las 2 primeras dosis y al final del período de seguimiento fue de 32,0 y 28,0%. Ninguna de las variables estudiadas se asoció con una mejoría en la AV corregida después del tratamiento. No se encontraron diferencias significativas en el coste medio mensual entre tratamientos. CONCLUSIONES: Aflibercept es un tratamiento efectivo en un número significativo de pacientes resistentes al tratamiento con ranibizumab, con un coste similar al generado durante las etapas finales de tratamiento con ranibizumab

PURPOSE: The aim of this study is to determine the effectiveness, safety and cost of aflibercept in the treatment of wet age-related macular degeneration (ARMD) refractory to ranibizumab. METHODS: Retrospective observational study was conducted on patients diagnosed with wet ARMD, and previously treated with ranibizumab. Efficacy variables assessed were changes in visual acuity (BCVA) and anatomical improvements in the most affected eye. Factors associated with improvement of BCVA with aflibercept were also studied. Adverse events related to the aflibercept administration were recorded. Cost analysis data were collected from the hospital perspective, and only taking the direct medical costs into account. Cost-effectiveness analysis was calculated using the aflibercept treatment cost, and effectiveness calculated as BCVA gained. RESULTS: A total of 50 eyes corresponding to 46 patients were included. The median follow-up period was 4.6 months (range: 1.0-6.0). Improvement in visual acuity after the first 2 doses and at the end of the follow-up period was observed in 32.0 and 28.0% of treated eyes, respectively. None of the variables studied was associated with an improvement in the BCVA after treatment. No significant differences were found in the average monthly cost between treatments. CONCLUSIONS: Aflibercept is shown to be an effective treatment in a significant number of patients resistant to treatment with ranibizumab, presenting a cost similar to that generated during the final stages of treatment with ranibizumab

Aflibercept in exudative age related macular degeneration refractory to ranibizumab.

PURPOSE: The aim of this study is to determine the effectiveness, safety and cost of aflibercept in the treatment of wet age-related macular degeneration (ARMD) refractory to ranibizumab. METHODS: Retrospective observational study was conducted on patients diagnosed with wet ARMD, and previously treated with ranibizumab. Efficacy variables assessed were changes in visual acuity (BCVA) and anatomical improvements in the most affected eye. Factors associated with improvement of BCVA with aflibercept were also studied. Adverse events related to the aflibercept administration were recorded. Cost analysis data were collected from the hospital perspective, and only taking the direct medical costs into account. Cost-effectiveness analysis was calculated using the aflibercept treatment cost, and effectiveness calculated as BCVA gained. RESULTS: A total of 50 eyes corresponding to 46 patients were included. The median follow-up period was 4.6 months (range: 1.0-6.0). Improvement in visual acuity after the first 2 doses and at the end of the follow-up period was observed in 32.0 and 28.0% of treated eyes, respectively. None of the variables studied was associated with an improvement in the BCVA after treatment. No significant differences were found in the average monthly cost between treatments. CONCLUSIONS: Aflibercept is shown to be an effective treatment in a significant number of patients resistant to treatment with ranibizumab, presenting a cost similar to that generated during the final stages of treatment with ranibizumab.

Láser subumbral para coriorretinopatía serosa central activa / Subthreshold laser for active central serous chorioretinopathy

No disponible

Cambio a eylea en edema macular debido a enfermedades vasculares de la retina / Switching to eylea in macular edema due to retinal vascular diseases

No disponible