Therapeutic landscape for inherited ocular diseases: Current and emerging therapies

Inherited ocular diseases comprise a heterogeneous group of rare and complex diseases, including inherited retinal diseases (IRDs) and inherited optic neuropathies. Recent success in adeno-associated virus-based gene therapy, voretigene neparvovec (Luxturna®) for RPE65-related IRDs, has heralded rapid evolution in gene therapy platform technologies and strategies, from gene augmentation to RNA editing, as well as gene agnostic approaches such as optogenetics. This review discusses the fundamentals underlying the mode of inheritance, natural history studies and clinical trial outcomes, as well as current and emerging therapies covering gene therapy strategies, cell-based therapies and bionic vision.

Algunos desafíos en mucopolisacaridosis tipo I / A few challenges in mucopolysaccharidosis type I

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care

Global publication trends in ophthalmic genetics and gene therapy research: A Scientometric analysis / Tendências globais de publicação de pesquisas sobre genética oftálmica e terapia genética: uma análise cientométrica

ABSTRACT Objective: A scientometric analysis produced in ophthalmic genetics and gene therapy research is lacking. The purpose of this study is to present a holistic analysis of ophthalmic genetics literature. Methods: The data used in this study were obtained from the Web of Science (WoS) Core Collection. All published documents between 1975-2019 were included. The data exported from WoS enabled the extensive details of ophthalmic genetics related literature including countries, institutions, authors, citations and keywords. Scientometric network maps of keywords and also country and institution co-authorships were created with free software. Global contributions of the countries to the ophthalmic genetics literature were shown by a graphic. Results: The search query revealed a total of 2322 documents. Most of the documents were original articles (75.75%). USA was the leading country by producing 45.39% of all documents in ophthalmic genetics research followed by UK, Germany, China and France. Pennsylvania University was the most contributing institution in the literature (5.25%) followed by University College London and Moorfields Eye Hospital. The average citations per item was 29.4. The most used keywords over a 40-year period were 'family', 'cell', 'photoreceptor' and 'expression'. Conclusions: USA and UK dominated the ophthalmic genetics research. A substantial increase in the number of published documents in this field were observed after 2010.

RESUMO Objetivo: A literatura carece de análise cienciométrica produzida em genética oftálmica e de pesquisa em terapia genética. O objetivo deste estudo é apresentar uma análise holística da literatura genética oftálmica. Métodos: Os dados utilizados neste estudo foram obtidos na base de dados Web of Science (WoS) Core Collection. Todos os documentos publicados entre 1975 e 2019 foram incluídos na análise. Os dados exportados da WoS viabilizaram acesso a amplos detalhes da literatura relacionada à genética oftálmica, incluindo países, instituições, autores, citações e palavras-chave. Mapas de rede cienciométrica foram criados por meio de software gratuito, com base em palavras-chave e em coautorias de países e instituições. As contribuições globais dos países para a literatura sobre genética oftálmica foram apresentadas em gráfico. Resultados: a busca por pesquisas revelou um total de 2.322 documentos cuja maioria eram artigos originais (75,75%). Os EUA foram o país que mais produziu artigos sobre o tema, com 45,39% de todos os documentos em pesquisa genética oftálmica; ele foi seguido pelo Reino Unido, Alemanha, China e França. A Universidade da Pensilvânia foi a instituição que mais contribuiu para a literatura (5,25%), e foi seguida pela University College London e pelo Moorfields Eye Hospital. A média de citações por item foi de 29,4. As palavras-chave mais usadas em um período de 40 anos foram 'família', 'célula', 'fotorreceptor' e 'expressão'. Conclusões: Os EUA e o Reino Unido dominaram a pesquisa em genética oftálmica. Após 2010, observou-se um aumento substancial no número de documentos publicados nessa área.

Doença do Enxerto-versus-hospedeiro ocular: Revisão / Graft-versus-Host Disease: Review

Resumo Doença do Enxerto-versus-hospedeiro (do inglês Graft-versus-Host Disease - GVHD) é uma complicação importante e com altas taxas de morbidade e mortalidade nos pacientes submetidos ao transplante alogênico de células-tronco hematopoiéticas. O acometimento ocular, denominado GVHD ocular, pode acometer todas as estruturas dos olhos, porém a unidade lacrimal (glândulas lacrimais e superfície ocular) é o principal alvo da resposta inflamatória mediada por células T doadas. O desenvolvimento de doença do olho seco grave é a principal manifestação clínica ocular, e a associação de diversas opções terapêuticas se faz necessário. O objetivo desta revisão é descrever as manifestações clínicas, os critérios diagnósticos, o impacto na qualidade de vida, o tratamento atual e as perspectivas desta doença, que precisa de um acompanhamento multidisciplinar.

Abstract Graft-versus-host Disease (GVHD) is a major complication with high morbidity and mortality rates on patients undergoing hematopoietic stem cell transplantation. The ocular involvement, named ocular GVHD, may affect all structures of the eyes, but the lacrimal unit (lacrimal glands and ocular surface) is the main target of the inflammatory response mediated by the donor T cells. The development of dry eye disease is the main clinical ocular manifestation, and the association of a variety of therapeutics options is necessary. The aim of the review is to describe the clinical manifestations, diagnostic criteria, impact in quality of life, the current treatment and future perspectives of this disease that demands a multidisciplinary follow-up.

Vision and the Nobel Prize / A visão e Prêmio Nobel

ABSTRACT The Nobel Prize is the world's foremost honor for scientific advances in medicine and other areas. Founded by Alfred Nobel, the prizes have been awarded annually since 1901. We reviewed the literature on persons who have won or competed for this prize in subjects related to vision and ophthalmology. The topics were divided into vision physiology, diagnostic and therapeutic methods, disease mechanism, and miscellaneous categories. Allvar Gullstrand is the only ophthalmologist to win a Nobel Prize; he is also the only one to receive it for work in ophthalmology. Other ophthalmologists that have been nominated were Hjalmar Schiötz (tonometer), Karl Koller (topical anesthesia), and Jules Gonin (retinal detachment). Other scientists have won the prize for eye-related research: Ragnar Granit, Haldan Hartline and George Wald (chemistry and physiology of vision), and David Hubel and Torsten Wiesel (processing in the visual system). Peter Medawar is the only person born in Brazil to have won the Nobel Prize.

RESUMO O Prêmio Nobel é a principal honraria do mundo para avanços científicos em medicina e outras áreas. Fundada por Alfred Nobel, os prêmios são concedidos anualmente desde 1901. Revisamos a literatura sobre pessoas que ganharam ou competiram por esse prêmio em assuntos relacionados à visão e oftalmologia. Os tópicos foram divididos em fisiologia da visão, métodos diagnósticos e terapêuticos, mecanismo de doenças e variados. Allvar Gullstrand não é o único oftalmologista a ganhar um Nobel, porém é o único a recebê-lo por contribuições na oftalmologia. Outros oftalmologistas foram nomeados: Hjalmar Schiötz (tonometro), Karl Koller (anestesia tópica) e Jules Gonin (descolamento da retina). Outros cientistas ganharam o prêmio com pesquisas relacionadas à visão: Ragnar Granit, Haldan Hartline e George Wald (química e fisiologia da visão); David Hubel e Torsten Wiesel (processamento no sistema visual). Peter Medawar é a única pessoa que nasceu no Brasil a ganhar o prêmio.

Ocular changes during pregnancy / Alterações oftalmológicas na gravidez

Abstract Pregnancy is needed for the perpetuation of the human species, and it leads to physiological adaptations of the various maternal organs and systems. The eye, although a closed space, also undergoes some modifications, most of which are relatively innocuous, but they may occasionally become pathological. For women, pregnancy is a susceptibility period; however, for many obstetricians, their knowledge of the ocular changes that occur during pregnancy tends to be limited. For this reason, this is a important area of study as is necessary the development of guidelines to approach those changes. Of equal importance are the knowledge of the possible therapies for ophthalmological problems in this period and the evaluation of themode of delivery in particular conditions. For this article, an extensive review of the literature was performed, and a summary of the findings is presented.

Resumo A gravidez é necessária à perpetuação da espécie humana, levando a adaptações fisiológicas dos diversos órgãos e sistemas maternos. O olho, apesar de uma cavidade fechada, sofre também algumas modificações, a maioria relativamente inócuas, que pontualmente poderão se tornar patológicas. A gravidez assume-se como um período particular de suscetibilidade para a mulher; no entanto, muitos obstetras têm conhecimento limitado sobre as alterações oftalmológicas na gravidez. Por conseguinte, impõe-se o seu estudo, bem como a elaboração de diretrizes para lidar com essas mudanças. De igual importância são o conhecimento da eventual terapêutica para problemas oftalmológicos neste período e a avaliação do tipo do parto em condições particulares. Desta forma, foi efetuada uma revisão bibliográfica extensa e apresentada uma síntese do tema.

Afecciones oculares de pacientes pediátricos en consulta de Neuroftalmología en Oued, Argelia / Doenças oculares de pacientes pediátricos em, consulta de Neuroptalmologia em Oued, Argélia / Ocular conditions in pediatric patients seen in Neurophthalmology clinic, Oued, Algeria

Introducción: cuando la visión está disminuida o ausente ocasiona minusvalías para los niños, y provoca lentitud en el aprendizaje. Objetivo: determinar las afecciones oculares de pacientes pediátricos en consulta de Neuroftalmología, Hospital Oftalmológico Amistad Argelia-Cuba, El Oued, en el período enero a junio de 2016. Método: se realizó un estudio observacional, descriptivo, el universo quedó constituido por 825 niños. Se estudiaron las variables: edad, sexo, diagnóstico oftalmológico y tipo de tratamiento recibido. Resultados: el 65,5 por ciento de pacientes correspondió al sexo masculino, la edad más representada estuvo entre 11-14 años para un 48,5 por ciento. La ambliopía refractiva y el estrabismo fueron las afecciones oftalmológicas más frecuentes, en el 60,6 y 15,8 por ciento de los casos respectivamente. Conclusiones: el trabajo del neuroftalmólogo y su equipo de salud, contribuye al tratamiento de la ambliopía, recibiendo la mayoría de los niños corrección óptica en consulta(AU)

Introduction: when vision is diminished or absent it causes disabilities for children and slow learning. Objective: to determine the ocular affections of pediatric patients in Neurophthalmology consultation at the ophthalmological Hospital Amistad-Algeria-Cuba, El Oued, from January to June 2016. Method: an observational and descriptive study was carried out; also the universe was constituted by 825 children. The variables were studied: age, sex, ophthalmological diagnosis and type of treatment received by children. Results: 65.5 percent of patients were males; the most represented age was between 11-14 years for 48.5 percent. Refractive amblyopia and strabismus were the most frequent ophthalmological affections, in 60.6 and 15.8 percent of cases respectively. Conclusions: the work of the neurophthalmologist and his health team contributes to the treatment of amblyopia receiving most of the children optical correction in consultation(AU)

Introdução: quando a visão é diminuída ou ausente, causa incapacidades para as crianças e causa um aprendizado lento. Objetivo: determinar as condições oculares de pacientes pediátricos em um Neuro-Oftalmologia, Eye Hospital Amizade Argélia-Cuba, El Oued, no período de janeiro a junho de 2016. Método: um estudo observacional, descritivo, o universo era composto por 825 crianças. As variáveis estudadas foram: idade, sexo, diagnóstico oftalmológico e tipo de tratamento recebido. Resultados: 65,5 por cento dos pacientes corresponderam ao sexo masculino, a idade mais representada foi entre 11-14 anos para 48,5 por cento. A ambliopia refrativa e o estrabismo foram as afecções oftalmológicas mais frequentes, em 60,6 e 15,8 por cento dos casos, espectivamente. Conclusões: o trabalho do neuroftalmologista e sua equipe de saúde contribuem para o tratamento da ambliopia, sendo que a maioria das crianças recebe correção óptica em consulta(AU)

Prevalence of different eye diseases excluding refractive errors presented at the outpatient clinic in Beheira eye hospital

Purpose of this study was to determine the frequency and spectrum of eye disorders presenting to the eye clinic of Damnhour, Behira Eye Hospital

Introduction: Epidemiological studies provide information on the prevention, treatment, and minimization of the impact of diseases on the society

Subjects and Methods: During November 2016 to December 2016, all patients who presented to Damnhour, Behira Eye Hospital suffering from ocular diseases other than refractive errors were included in this study.6252 patients were examined and evaluated for different eye diseases

Results: Conjunctival diseases were the most common disorders seen [33.7 %], followed by eye lid and lacrimal system diseases [27.4 %] and cataract [25.2 %]

Conclusion: The most common causes of ocular morbidity in patients seen at Damnhour, Behira Eye Hospital were conjunctivitis, blepharitis, chalazia. These morbidities were preventable through community proper eye health education and proper hygiene. Cataract was the leading cause of visual impairment in elders. Proper intervention was needed to avoid visual impairment and blindness

Terapias anti-VEGF en el tratamiento de enfermedades de la retina: recomendaciones para la práctica en Colombia / Anti-VEGF therapy for retinal diseases treatment: recommendations for it practice in Colombia

Objetivo: Exponer la experiencia local sobre el tratamiento de las enfermedades retinales con terapias anti factor de crecimiento endotelial vascular (anti-VEGF) y crear conciencia en relación con la atención centrada en el paciente reconociendo el papel de los médicos especialistas en la determinación del tratamiento más apropiado basado principalmente en la evidencia científica, pero también teniendo en cuenta la experiencia y práctica exitosas en el manejo de cada paciente, con base en sus características únicas e individuales. Método: Revisión y comparación de la literatura científica con la experiencia de los autores, en el diagnóstico y tratamiento de las enfermedades que involucran inyecciones intraoculares, haciendo especial énfasis en la degeneración macular relacionada con la edad neo vascular (DMRE-NV), el edema macular diabético (EMD), la retinopatía diabética (RD), edema macular por oclusión venosa de rama de vena central de la retina (ORVR), la oclusión de vena central de la retina (OVCR) y la neo vascularización sub retiniana asociada a miopía patológica (MP). Resultados: la revisión realizada reafirma que tanto cuando hablamos de clases de medicamentos, de algoritmos de tratamiento o de perfiles de paciente, los diferentes agentes de una misma clase terapéutica pueden tener eficacias o perfiles de seguridad variables. Se debe considerar la importancia clínica que representa la valoración adecuada de los resultados pos tratamiento, pero sobre todo, la selección cuidadosa para determinar el agente y esquema más apropiado en la intención de tratar a un paciente. Si bien existen recomendaciones y guías de tratamiento para las patologías, los protocolos en el manejo individualizado y la exposición de estas experiencias de vida real se hacen necesarios, ya que no todos los pacientes ni todas las enfermedades de la retina responden de igual forma a cada agente terapéutico. Conclusión: La efi cacia y seguridad en el uso de las terapias anti-VEGF son aspectos de suma importancia cuando se trata de proporcionar una atención verdaderamente centrada en el paciente. No hay ninguna solución, intervención o alternativa terapéutica que se ajuste a todas las enfermedades oculares complejas, por lo que es importante hacer un balance que considere la evidencia disponible, la experiencia, y las expectativas de los pacientes y tratantes. Esto permitirá acceder a las alternativas terapéuticas adecuadas, en el momento adecuado siempre teniendo en mente los perfiles de eficacia, seguridad, farmacovigilancia activa y los costos asociados a las alternativas terapéuticas utilizadas en el país.

Purpose: To display local experience on treatment for retinal diseases with anti-Vascular Endothelial Growth Factor (anti-VEGF) therapies and to raise awareness regarding patient-centered care, recognizing the role of medical specialists in determining the most appropriate treatment mainly based on scientific evidence, but also considering the successful experience and practice handling each patient, based on their unique and individual characteristics. Method: Review and comparison of scientific literature according to the authors experience to diagnose and treat diseases involving intraocular injections, focusing on Neovascular Age-related Macular Degeneration (NV-AMD), Diabetic Macular Edema (DME), Diabetic Retinopathy (DR), Macular Edema due to Branch Retinal Vein Occlusion (BRVO), Central Retinal Vein Occlusion (CRVO) and Sub-retinal Neovascularization associated with Pathological Myopia (PM). Results: the review confi rms that, when speaking of drug classes, treatment algorithms or patient profi les, diff erent agents of the same therapeutic class can result in variable efficacies or safety profiles. The clinical relevance represented by the adequate assessment of post-treatment results must be considered, but specially, the careful screening to determine the most appropriate agent and regimen in the intention-to-treat a patient. Th ough recommendations and treatment guidelines for pathologies exist, protocols in individualized management and exposure of these real-life experiences are necessary, since not all patients or all retinal diseases respond in the same way to each therapeutic agent. Conclusion: Efficacy and safety using anti-VEGF therapies are extremely important when it comes to providing truly patient-centered care. There is no therapeutic solution, intervention or alternative that fi ts all complex ocular diseases, so it is important to weigh the available evidence, the experience and the expectations of both patients and prescribers. Th is will allow to get access to the appropriate therapeutic alternatives, in a timely manner, always considering the efficacy and safety profiles, active pharmacovigilance and the costs associated with the therapeutic alternatives used locally.

Teleophthalmology: where are we now? / Teleoftalmologia: onde estamos?

ABSTRACT Information and communication technology has rapidly reached diverse aspects of modern life, including medicine and health-related matters. Aiming to improve teaching, research, and health care delivery for geographic or economic reasons, telemedicine is an ascending trend. Teleophthalmology might be one of the most challenging applications of telemedicine given its need for standardized and high definition digital images. However, technological advances are enhancing information transmission continuously and expanding the potential of teleophthalmology. In this review, we investigate the evolution and current status of teleophthalmology, describe its use in different areas, and explore its applicability. Although teleophthalmology is not a replacement for traditional eye care and still faces challenges for adequate implementation, it represents an effective care delivery method, facilitating appropriate and timely distribution of service especially in remote and/or underdeveloped regions.

RESUMO A tecnologia da informação alcança diversos aspectos da vida moderna, incluindo a medicina. Com o objetivo de aprimorar o ensino, pesquisa e assitência médica, seja por motivos geográficos ou econômicos, a telemedicina é uma tendência em ascenção. A teleoftalmologia é possivelmente uma das aplicações mais desafiadoras da telemedicina, uma vez que requer imagens digitais de alta resolução. Entretanto, avanços tecnológicos estão continuamente melhorando a transmissão de informações e expandindo o potencial da teleoftalmologia. Um revisão da literatura foi realizada para investigar a evolução e o status atual da teleoftalmologia, descrevendo e explorando sua aplicação em diferentes subespecialidades. Apesar de não representar uma substituição para a assistência oftalmológica tradicional, e, embora ainda existam desafios frente a uma implementação adequada, a teleoftalmologia é um método efetivo de assistência, facilitando a distribuição de atendimento, especialmente em regiões remotas e/ou menos desenvolvidas.

Sarcoidose ocular: a nossa realidade nos últimos seis anos / Ocular sarcoidosis: our reality for the past six years

RESUMO Introdução: Na sarcoidose, as manifestações oculares são comuns e podem constituir a manifestação inicial da doença ou mesmo a única. O objetivo deste trabalho foi analisar os parâmetros demográficos, manifestações clínicas, terapêutica e principais complicações oculares em doentes com sarcoidose ocular. Métodos: Estudo descritivo e retrospectivo que incluiu doentes com o diagnóstico de sarcoidose ocular, observados nas consultas de Inflamação Ocular e de Doenças Auto-Imunes do Hospital Prof. Doutor Fernando Fonseca, no período entre 2009 e 2015. Resultados: Foram identificados 11 doentes com o diagnóstico de sarcoidose ocular, com predomínio do sexo feminino (54,5%) e caucasianos. A média da idade ao diagnóstico foi de 45±14 anos. A sarcoidose manifestou-se de forma exclusivamente ocular em 36% dos casos. O envolvimento ocular foi a manifestação inicial em 90,9% dos casos. Identificaram-se 9 casos de uveíte, 1 de esclerite anterior nodular e 1 de queratite intersticial. O tratamento com corticoterapia tópica foi realizado em 100% dos casos, sendo o tratamento único em apenas 1 doente. Nos restantes, foi necessário associar corticoterapia oral. Em 4 desses doentes, pela gravidade da doença e atingimento binocular, utilizou-se também corticoterapia pulsada endovenosa. O tratamento adjuvante imunossupressor mais frequentemente utilizado foi o metotrexato (45%). Um doente necessitou de terapia biológica com infliximabe para controle da doença. Conclusão: A manifestação ocular mais comum foi a uveíte, com predomínio da panuveíte. O tratamento mais utilizado e com maior taxa de controle da doença foi a corticoterapia sistêmica em associação com o metotrexato.

ABSTRACT Purpose: In sarcoidosis, ocular manifestations are common and can be the initial or even the only clinical manifestation. The aim of this study was to analyze the demographic parameters, clinical manifestations, treatment and the major ocular complications in patients with ocular sarcoidosis. Methods: We conducted a descriptive and retrospective study that included patients with the diagnosis of ocular sarcoidosis, followed by inflammatory ophthalmology and immune-mediated disease consults at the Prof. Doutor Fernando Fonseca Hospital, between 2009 and 2015. Results: Eleven patients with the diagnosis of ocular sarcoidosis were identified, with a predominance of females (54,5%) and Caucasians. The average age at diagnosis was 45 ± 14 years. Sarcoidosis was exclusively ocular in 36%. The first manifestation of sarcoidosis was eye disease in 90.9 % of cases. Nine cases of uveitis, one of nodular scleritis and one of interstitial keratitis were observed. Topical corticoid treatment was applied in 100% of cases, with only one achieving remission of the disease. Oral corticoid treatment was necessary in 10 cases, four of which needed a high dose methylprednisolone induction. Methotrexate was the adjunctive immunosuppressive treatment of choice in 45% of cases. There was one refractory case for conventional immunosuppressive therapy, having achieved remission with biologic agent infliximab. Conclusion: Uveitis was the commonest ocular manifestation, and there was a predominance of panuveitis. Systemic corticoid and methotrexate were the most used immunosuppressive treatments for maintaining the controlled stated of the disease.

Tratamiento de hemangiomas coroideos con terapia fotodinámica / Choroidal hemangiomas treatment with photodynamic therapy

Objetivo: reportar tres casos de pacientes con hemangioma de coroides tratados con terapia fotodinámica (TFD) y realizar una revisión de la literatura sobre el tema. Diseño del estudio: estudio retrospectivo intervencionista, tipo serie de casos. Pacientes y metodología: revisión de historias clínicas y de exámenes complementarios de 3 pacientes con diagnóstico de hemangioma de coroides pre y post tratamiento con TFD en la Fundación Oftalmológica Nacional. Resultados: de los 3 casos presentados, dos se presentaron como hemangiomas de coroides circunscritos y uno difuso en un paciente con síndrome de Sturge ­ Weber. En todos los casos se observó mejoría de la agudeza visual, resolución del desprendimiento seroso de retina y regresión del tumor, sin efectos secundarios a la TFD. Conclusiones: el hemangioma coroideo es una patología con una baja incidencia, de evolución variable y difícil de predecir. La terapia fotodinámica es una alternativa no invasiva, de elección para hemangiomas coroideos sintomáticos, ya que no produce daño a las estructuras vecinas y presenta pocos efectos colaterales.

Objective: to report three cases of patients with choroidal hemangioma treated with photodynamic therapy (PDT) and review of the literature. Study design: retrospective interventional study, cases reports. Patients and methods: review of medical records and ancillary tests were performed in 3 patients with choroidal hemangioma pre and post PDT treatment. Results: of the 3 cases reported, two had a circumscribed choroidal hemangioma and one a diffuse hemangioma associated with Sturge ­ Weber syndrome. All cases had improvement in visual acuity, resolution of serous retinal detachment and tumor regression without PDT side eff ects after follow-up. Conclusions: choroidal hemangiomas have a low incidence and an uncertain prognosis. Photodynamic therapy remains as a noninvasive alternative for symptomatic choroidal hemangiomas, without damage to surrounding structures and few side effects.

Tendencias y costos del uso de antiangiogénicos en Colombia / Trends and costs of the use the antiangiogenics in Colombia

Objetivo: determinar la tendencia de uso de medicamentos AntiVEGF en las patologías oftalmológicas en la Clínica de Oftalmología de Cali y comparar con otros escenarios nacionales. Metodología: se realizó un estudio descriptivo que determinó la tendencia de uso de AntiVEGF en la Clínica de Oftalmología de Cali. Se construyeron indicadores sobre el número de inyecciones ordenadas por cada 100 consultas de oftalmología y se determinó la tendencia de aplicación por cada tipo de AntiVEGF, en el periodo 2013-2014. Basados en los datos de ventas por Lucentis por ciudad, se construyeron indicadores proxy similares para las otras ciudades, teniendo en cuenta las poblaciones mayores de 35 años proyectadas para las ciudades por el DANE. Los datos se expresan en tasas por 100.000 habitantes. La comparación de tasas se realizó por el método indirecto. Adicionalmente se realizó una revisión documental sobre los costos de los medicamentos AntiVEGF y las disposiciones legales y normativas sobre su uso en Colombia. Estos se presentan de forma descriptiva. Resultados: se encontró que la tendencia de uso de AntiVEGF está en aumento, con una frecuencia de 8 indicaciones de AntiVEGF por cada 100 consultas por retinólogo. En 2013 fue de 7 por cada 100 consultas que aumentó a 9 por cada 100 consultas en el año 2014. Existe una tendencia creciente de aplicar 2 inyecciones más de AntiVEGF por cada mes transcurrido El Avastin mantiene una tendencia estable con escasas variaciones Existe una variación importante en la tasa de inyecciones por 100.000 habitantes entre las diferentes ciudades en Colombia. Conclusiones: hay una tendencia al aumento del uso de medicamentos AntiVEGF intravitreos, con el consecuente gasto en salud asociado. Esto necesariamente afecta los recursos del Sistema general de Seguridad Social en Salud de Colombia, por lo que es importante conocer adecuadamente las indicaciones y el costo-beneficio del tratamiento, no sólo en términos del individuo, sino en términos de la comunidad.

Objective: to determine trend of use of anti VEGF in eye diseases in an ophthalmology clinic in Cali and compare with other national settings. Methodology: a descriptive study that determined the use of anti-VEGF trend in Clínica de Oftalmología de Cali was conducted. Indicators on the number of injections per 100 ophthalmology visits and trend of application for each type of anti-VEGF was determined, in the period 2013-2014. Based in sales data by a pharmacological company, proxy indicators were built to compare with other cities, considering population above 35 years old acording to DANE projections. Data are expressed in rates per 100,000 inhabitants rates comparison was performed by the indirect method. Additionally a literature review on the costs of the anti-VEGF drugs and the laws and regulations on its use in Colombia was made. These are presented descriptively. Results: It was found that the anti-VEGF's trend is increasing, with a frequency of 8 indications of antiVEGF per 100 consultations by retina specialist. In 2013 it was 7 indications per 100 consultations and increased to 9 indications per 100 consultations in 2014. There is a growing tendency to apply two more injections of anti-VEGF for each month elapsed. Avastin maintained a stable trend with few variations There is considerable variation injection rate per 100,000 among different cities in Colombia. Conclusions: There is a trend towards increased use of intravitreal anti-VEGF drugs, with consequent associated health spending. This necessarily affects the resources of the General System of Social Security in Health of Colombia, so it is important to properly understand the indications and the cost-benefit of treatment, not only in terms of the individual, but in terms of the community.

Revisión de Queratocono y su enfoque como enfermedad inflamatoria / Keratoconus review. An inflammatory approach

El queratocono es una condición ectásica de la córnea, que se ha descrito desde hace muchos años, y en los últimos años ha despertado mucho interés por el desarrollo de la cirugía refractiva. Clásicamente se ha considerado como un proceso no inflamatorio y se disponen varias definiciones, considerando si es un desorden clínico, topográfico o biomecánico. Los nuevos enfoques de esta enfermedad, no sólo consideran los procesos conocidos relacionados con la posible patogenia, como la alergia ocular y el frote de los párpados, sino que además consideran que se puede tratar de un problema inflamatorio crónico, relacionados con los procesos de microtrauma corneal. En esta revisión se pretende hacer una exploración de estos conceptos y relacionarlos con los conceptos clásicos de la enfermedad.

Keratoconus is a corneal ectatic disorder that has been described several years ago, and in recent times has aroused much interest in it because the development of refractive surgery. It has traditionally been considered a noninflammatory process and various definitions are provided, considering whether it is a clinical, topographic or biomechanical approach. New approaches to this disease, not only considering the known processes related to the possible pathogenesis, such as allergy and eye rubbing of the eyelids, but also the theory that it can be related to a chronic inflammatory condition related to the processes of corneal microtrauma. This review is intended to make an exploration of these concepts and relate them to the classical concepts of disease.

Perspectivas farmacológicas de futuro en el tratamiento de la degeneración macular relacionada a la edad (DMRE) neovascular. Parte 2: terapia génica y fármacos en estudios pre clínicos / Pharmacological future perspectives in the treatment of age-related macular degeneration (AMD) neovascular. Part 2: gene therapy and drugs in pre-clinical trials

Objetivos: presentar una revisión acerca de la terapia génica y los fármacos en estudios preclínicos como nuevos y posibles blancos de tratamiento farmacológicos para la degeneración macular relacionada a la edad neovascular y el estado de los estudios clínicos de los mismos. Diseño del estudio: revisión de tema. Métodos: se realizó una búsqueda de la literatura electrónica disponible en EMBASE, PUBMED y Google Scholar acerca del tema y se complementa con la información encontrada en www.clinicaltrials.gov y la plataforma de registros internacionales de ensayos clínicos de la OMS. Conclusiones: la terapia génica vinculada a la degeneración macular asociada a la edad neovascular muestra un avance científico importante en el campo de la farmacología ocular pudiendo proporcionar eficacia tras una sola inyección de un vector que puede expresar continuamente una proteína elegida. Existen estudios pre-clínicos que sugieren nuevos y diversos blancos farmacológicos para la degeneración macular relacionada a la edad mostrando un perfil de seguridad y eficacia significativo.

Objectives: to review gene therapy and drugs in preclinical studies as potential new targets for pharmacological treatment for agerelated macular degeneration neovascular and the state of development clinical trials. Study design: literature review. Methods: a search of electronic literature available in EMBASE, PubMed and Google Scholar on the subject was performed and complemented with information found on www.clinicaltrials.gov and WHO platform of international clinical trials registers. Conclusions: the gene therapy linked to age-related macular degeneration shows a scientific important advance in the field of the ocular pharmacology being able to provide efficiency after a single injection of a vector that can express a chosen protein. There are preclinical studies that suggest new and different pharmacological targets for age-related macular degeneration showing a significant safety and efficacy profile.

Implante intravítreo de Dexametasona en uveítis no infecciosa. Resultados clínicos en un grupo de pacientes de la ciudad de Medellín / Dexamethasone intravitreal implant for noninfectious uveitis. Clinical results in a patients group in Medellín

Objetivos: describir los resultados clínicos del uso del implante de dexametasona intravítrea en un grupo pacientes con uveítis no infecciosa de la ciudad de Medellín. Diseño del estudio: estudio descriptivo, retrospectivo y observacional. Métodos: se revisaron las historias clínicas de 19 pacientes con uveítis no infecciosa a los que se les realizó el implante de dexametasona. Se compararon variables clínicas antes de la aplicación, al lograr una mejoría de los parámetros inflamatorios y en la última valoración que tuvieran los pacientes. Se realizaron cálculos de medias y rangos y se aplicó la t de Student pareada para la diferencia de medias de las variables clínicas descritas antes del procedimiento y al lograr la mejoría clínica, y antes del procedimiento y en la última valoración. Resultados: se realizaron 24 implantes de dexametasona en los 19 pacientes. La mayoría de los pacientes tuvieron uveítis intermedia idiopática (42.1%) o panuveitis (42.1%). Se encontró una mejoría de los parámetros inflamatorios en un promedio de 8.39 semanas (rango 4-16 semanas) con una diferencia significativa antes de la aplicación y en el momento de la mejoría, en las variables de agudeza visual (p=0,025), celularidad en cámara anterior (p=0,000), celularidad en vítreo (p=0,000) y opacidad vítrea (p=0,000). Con respecto a la última valoración hubo una mejoría estadísticamente significativa de los parámetros inflamatorios, excepto de la agudeza visual (p=0,331). Conclusión: el implante intravítreo de dexametasona es una alternativa para pacientes con uveítis no infecciosas que no mejoren con tratamiento estándar. A las 8 semanas se observa una mejoría estadísticamente significativa de todos los parámetros inflamatorios, que pueden persistir hasta las 34 semanas, a pesar de que hay pacientes que requieren reaplicaciones y/o continuidad de la terapia sistémica o tópica.

Purpose: to describe the clinical results of intravitreal dexamethasone implants in a group of patients with noninfectious uveitis. Methods: a retrospective analysis of the records of 19 patients with noninfectious uveitis who underwent intravitreal dexamethasone implants was performed to compare clinical measures before the application, during the improvement phase of infl ammatory parameters and in the last visit. Paired t student was used to assess differences of clinical parameters before and after the clinical procedure. Results: nineteen patients were treated with 24 dexamethasone implants. Most of the patients had idiopathic intermediate uveitis (42.1%) or panuveitis (42.1%). Improvement was found in 8.39 weeks (R= 4-16 weeks) in the inflammatory parameters with a significant improvement in visual acuity (p=0,025), anterior chamber cells (p=0,000), vitreous cells (p=0,000) and vitreous haze (p=0,000). Average follow up to the last visit was 39.4 weeks (8-104 weeks) with improvement on these clinical variables with exception of visual acuity (p=0,331). Conclusions: The intravitreal dexamethasone implant is a good alternative for patients with non infectious uveitis who don't get better with the standard treatment or have contraindications for it. Significant improvement in the parameters were observed as early as week 8 and were maintained over 34 weeks, despite there were patients who required reapplications and/or topic or systemic or therapy.

Análisis colorimétrico computarizado del color de la piel palpebral: un potencial método No Invasivo para monitorizar el cumplimiento de la terapia con parche en ambliopía / Computerized colorimetric analysis of skin palpebral color. A potential non invasive method for monitoring patch Compliance in the Treatment of amblyopia

Objetivo: evaluar el análisis colorimétrico computarizado del color de la piel del párpado antes y después de realizar oclusión, con el fin de determinar qué cambios en el color de la piel permiten conocer el cumplimiento de la terapia oclusiva en el tratamiento de la ambliopía. Métodos: se analizó el cambio de coloración de la piel tomando fotografías estandarizadas, antes y después de 48 horas de aplicación del parche. Los análisis se hicieron con el programa PS CS2 de Adobe Systems que proporciona discriminación de los colores primarios en una imagen determinada y permite analizar y comparar numéricamente las intensidades. Resultados: el promedio basal de intensidades fue de 52.50 con un rango entre 42.11 y 72.87. La desviación estándar fue de 37.34. El promedio después de 48 horas oclusión fue de 102.33 con un rango de entre 96.32 y 109.28 y una desviación estándar de 62.49. (P≤0.05). Al comparar el cambio de la piel ocluida en los párpados con la piel de la mejilla, expuesta a la luz pero no ocluida, se demostraron cambios igualmente significativos. Conclusiones: el análisis colorimétrico computarizado no invasivo de los cambios en la coloración de la piel de los pacientes en tratamiento con ambliopía puede convertirse en un método estándar para monitorizar el cumplimiento de la terapia con oclusión. Los resultados del presente trabajo son claros en evidenciar que tan rápidamente se inducen cambios colorimétricos en la piel, incluso antes de que éstos sean detectables a simple vista. Saber qué tan disciplinado ha sido el tratamiento da la posibilidad de conocer exactamente en qué situación está el paciente y estimulará a padres y pacientes para cumplir la terapia.

Objective: to evaluate the colorimetric computerized analysis of palpebral skin color before and after occluding the eye, in order to determine what changes in skin color allow to understand the compliance with patching treatment while treating amblyopia. Methods: skin color change was analyzed taking standardized pictures before and after 48 hours occlusion. Analysis was done with the program PS CS2 from Adobe Systems that gives color discrimination from an image and allows numerical comparison between intensities. Results: palpebral skin mean basal intensity was 52.50 (between 42-11 and 72-87). SD was 37.34. Average after 48 hours occlusion was 102.33 (96.32 to 109.28) and SD of 62.49 (P≤0.05). When comparing occluded skin color with cheek color, exposed to light but not occluded, there were also significant changes. Conclusions: Noninvasive colorimetric computerized analysis from changes in skin color in amblyopic patients treated with patching, could become a standard method for monitoring compliance with occlusion therapy. Results of this experiment are clear and evidence that changes in skin color occur quickly after starting the patch, even before they are visible to the bare eye. Knowing how disciplined has been the patient with his treatment gives the opportunity of knowing the exact situation of the patient and will stimulate parents and patients to improve patch compliance.

Resultados visuales con nuevo lente trifocal AT LISA® tri 839MP: serie de casos / Visual outcomes with new lens trifocal AT LISA® tri 839MP: case series

Objetivo: Evaluar los resultados visuales del implante de lente trifocal AT LISA® tri 839MP en pacientes con cataratas o presbicia. Métodos: reporte de serie de casos de 14 pacientes (24 ojos) en los que se realizó facoemulsificacion del cristalino e implante del lente trifocal AT LISA® tri 839MP. Resultado: en un periodo promedio de 6,3 meses se evaluó la visión la cercana y lejana con promedios de visión logMar sin corrección de 0,004 y 0,008 respectivamente y para la visión intermedia el promedio logMar fue 0,02; con 100% de los pacientes con independencia de gafas Los fenómenos visuales como halos estuvieron presentes en 8,4% de los ojos. Conclusiones: el lente evaluado produce excelentes resultados visuales en función visual lejos, intermedia y cerca con gran satisfacción del paciente.

Objective: to evaluate visual results in trifocal lens implant AT LISA tri 839MP® in patients with cataracts and presbyopia. Methods: this case series report comprised 14 patients (24 eyes) who had lens phacoemulsification and implantation of AT LISA tri 839MP® trifocal lens. Results: during an average period of 6.3 months, mean values of 0,004 and 0,008 logMar were obtained respectively for uncorrected near and distance vision and the average intermediate vision was assessed with logMAR scale at 0,02 ;100% of patients have independence of spectacles. Visual phenomena as halos were presented in 8.4 % of eyes. Conclusions: the evaluated lens produces excellent visual results in far, intermediate and near visual acuity, with great patient satisfaction.