Analysis of the epidemiological burden of age-related macular degeneration in China based on the data of global burden of disease / 中南大学学报(医学版)

OBJECTIVES@#Age-related macular degeneration (AMD) is one of the 3 major eye diseases recognized by WHO to prevent blindness, and which is the main cause of irreversible visual impairment in the elderly. This study aims to analyze the disease epidemiological burden, and provide a theoretical foundation for the prevention and control of AMD in China based on the data in global burden of disease (GBD) 2019.@*METHODS@#The prevalent cases/prevalence, disability-adjusted life year (DALYs)/DALY rate of AMD and socio-demographic index (SDI) for global and China were searched from the GBD 2019 database to analyze the epidemiological trend, age-period-gender trend of AMD in China from 1990 to 2019, and to evaluate the relations between the prevalence and SDI.@*RESULTS@#In 2019, the prevalence of AMD in China was at a high level in the world, and the number of prevalent cases were 1.93 times of that in 1990. The prevalence and DALY rates continued to rise. The age trend of AMD in China was high at the middle of the age stages and low at the two ends, and which was higher in the female than in the male. With the increase of SDI, the prevalence of AMD was increased linearly.@*CONCLUSIONS@#The disease burden of AMD in China is increased significantly and is positively correlated with the social development from 1990 to 2019. It is of great significance to study the relationship between epidemilolgical data of AMD and social development level for diagnosis treatment and policy of AMD.

Joint effects of meteorological factors and PM2.5 on age-related macular degeneration: a national cross-sectional study in China

BACKGROUND@#Weather conditions are a possible contributing factor to age-related macular degeneration (AMD), a leading cause of irreversible loss of vision. The present study evaluated the joint effects of meteorological factors and fine particulate matter (PM2.5) on AMD.@*METHODS@#Data was extracted from a national cross-sectional survey conducted across 10 provinces in rural China. A total of 36,081 participants aged 40 and older were recruited. AMD was diagnosed clinically by slit-lamp ophthalmoscopy, fundus photography, and spectral domain optical coherence tomography (OCT). Meteorological data were calculated by European Centre for Medium-Range Weather Forecasts (ECMWF) reanalysis and were matched to participants' home addresses by latitude and longitude. Participants' individual PM2.5 exposure concentrations were calculated by a satellite-based model at a 1-km resolution level. Multivariable-adjusted logistic regression models paired with interaction analysis were performed to investigate the joint effects of meteorological factors and PM2.5 on AMD.@*RESULTS@#The prevalence of AMD in the study population was 2.6% (95% CI 2.42-2.76%). The average annual PM2.5 level during the study period was 63.1 ± 15.3 µg/m3. A significant positive association was detected between AMD and PM2.5 level, temperature (T), and relative humidity (RH), in both the independent and the combined effect models. For PM2.5, compared with the lowest quartile, the odds ratios (ORs) with 95% confidence intervals (CIs) across increasing quartiles were 0.828 (0.674,1.018), 1.105 (0.799,1.528), and 2.602 (1.516,4.468). Positive associations were observed between AMD and temperature, with ORs (95% CI) of 1.625 (1.059,2.494), 1.619 (1.026,2.553), and 3.276 (1.841,5.830), across increasing quartiles. In the interaction analysis, the estimated relative excess risk due to interaction (RERI) and the attributable proportion (AP) for combined atmospheric pressure and PM2.5 was 0.864 (0.586,1.141) and 1.180 (0.768,1.592), respectively, indicating a synergistic effect between PM2.5 and atmospheric pressure.@*CONCLUSIONS@#This study is among the first to characterize the coordinated effects of meteorological factors and PM2.5 on AMD. The findings warrant further investigation to elucidate the relationship between ambient environment and AMD.

Charles Bonnet syndrome in age-related macular degeneration - prevalence and clinical features in a Portuguese population / Síndrome de Charles Bonnet na degeneração macular relacionada à idade - prevalência e características clínicas numa população portuguesa

ABSTRACT Objective: Age-related macular degeneration (AMD) is the most prevalent cause of irreversible visual loss in the developed world. In late stages, it may lead to extremely low visual acuities, especially when associated with geographic atrophy or choroidal neovascularization. According to recent literature, Charles Bonnet syndrome (CBS) may be a rather common feature of late AMD. Methods: One hundred patients with late-stage age-related macular degeneration were actively asked whether they had symptoms of Charles Bonnet syndrome. Those that answered positively underwent a comprehensive questionnaire about the details of the visual hallucinations. Results: The following factors were significantly associated with Charles Bonnet syndrome: older age (+6.3 years; p=0.003), lower visual acuity in the better eye (Charles Bonnet Syndrome Group: 0.11; Non-Charles Bonnet Syndrome Group: 0.42; p=0.005) and female sex (Charles Bonnet Syndrome Group: 88%; Non-Charles Bonnet Syndrome Group: 43%; p=0.02). The visual hallucinations occurred mainly straight ahead (n=5), once per day (n=4), at no particular time (n=6), lasted some minutes (n=5), and disappeared after blinking (n=3) or looking away (n=3). The majority of patients lived alone (n=7), had not told anyone about the hallucinations (n=6), and associated the episodes with severe distress (n=5). Conclusion: Charles Bonnet syndrome was fairly prevalent in this late-stage age-related macular degeneration population. Our sample shows the importance of directly asking subjects about Charles Bonnet syndrome since they are often reluctant to admit to having visual hallucinations. Reassurance about its benignity is crucial to improve their quality of life.

RESUMO Objetivo: A doença macular ligada à idade (DMI) é a causa mais prevalente de perda visual irreversível nos países desenvolvidos. Em estadios avançados, esta doença pode levar a acuidades visuais extremamente baixas. De acordo com literatura recente, a Síndrome de Charles Bonnet (SCB) pode acontecer de forma relativamente comum na DMI tardia. Métodos: Cem doentes com degeneração macular da idade avançada foram interrogados ativamente sobre terem sintomas da síndrome de Charles Bonnet. Os que responderam de forma positiva foram submetidos a um questionário oral detalhado sobre os pormenores das alucinações visuais. Resultados: Os seguintes fatores foram significativamente associados à síndrome de Charles Bonnet: idade avançada (+6,3 anos; p=0,003), menor melhor acuidade visual corrigida no melhor olho (Grupo com Síndrome de Charles Bonnet: 0,11; Grupo sem Síndrome de Charles Bonnet: 0,42; p=0,005) e sexo feminino (Grupo com Síndrome de Charles Bonnet: 88%; Grupo sem Síndrome de Charles Bonnet: 43%; p=0,02). As alucinações visuais ocorriam principalmente em frente (n=5), uma vez por dia (n=4), em qualquer altura do dia (n=6), duravam alguns minutos (n=5) e desapareciam após pestanejo (n=3) ou desvio do olhar (n=3). A maioria dos doentes vivia sozinha (n=7), não tinha partilhado sua condição com ninguém (n=6) e associava os episódios a uma sensação angustiante (n=5). Conclusão: A síndrome de Charles Bonnet teve prevalência relativamente alta nessa população de degeneração macular da idade. Nossa amostra sublinha a importância de questionar diretamente sobre síndrome de Charles Bonnet, uma vez que os doentes se sentem muitas vezes relutantes em admitir alucinações visuais. A reafirmação da benignidade da situação é crucial para aumentar a qualidade de vida desses indivíduos.

Stem cell therapy in stargardt disease: a systematic review

This article aimed to review current literature on the safety and efficacy of stem cell therapy in Stargardt disease. A comprehensive literature search was performed, and two animal and eleven human clinical trials were retrieved. These studies utilized different kinds of stem cells, including human or mouse embryonic stem cells, mesenchymal stem cells, bone marrow mononuclear fraction, and autologous bone marrow-derived stem cells. In addition, different injection techniques including subretinal, intravitreal, and suprachoroidal space injections have been evaluated. Although stem cell therapy holds promise in improving visual function in patients with Stargardt disease, further investigation is needed to determine the long-term benefits, safety, and efficacy in determining the best delivery method and selecting the most appropriate stem cell type.

Calidad de vida según función visual en degeneración macular húmeda asociada a la edad tratada con Bevacizumab / Quality of Life According to Visual Function in Age-related Wet Macular Degeneration Treated with Bevacizumab

Introducción: La degeneración macular asociada a la edad, es causa frecuente de ceguera o baja visión en el adulto mayor. La valoración de la calidad de vida relativa a la función visual, es fundamental en estos pacientes tratados con Bevacizumab. Objetivo: Evaluar la calidad de vida en relación con la función visual en pacientes con degeneración macular tratada con Bevacizumab asociada a la edad. Métodos: Estudio descriptivo longitudinal prospectivo realizado en el ICO "Ramón Pando Ferrer", desde enero de 2019 hasta mayo de 2021. La muestra fue de 52 pacientes. El cuestionario NEI VFQ-25 fue aplicado antes y después de la administración de las tres dosis del medicamento intravítreo. Resultados: Predominó el sexo femenino, el grupo etario de mayor representación fue el de 60 a 79 años, la enfermedad sistémica más frecuente fue la hipertensión y ocular, la catarata. Casi todos los pacientes ganaron más de dos líneas en la cartilla de Snellen, el 42,3 por ciento presentó una ganancia de 3 líneas o más. El resultado de la mayoría de los elementos que explora el test, así como la función visual total es significativo desde el punto de vista estadístico. Conclusiones: Hubo una mejoría en la calidad de vida relativa a la función visual en los pacientes después de ser tratados con Bevacizumab. No existió una relación directamente proporcional entre la mejor agudeza visual post tratamiento y la mejora de la función visual total(AU)

Introduction: Age-related macular degeneration constitutes a frequent cause of blindness or low vision in the older adult. The assessment of quality of life related to visual function is essential in these patients treated with Bevacizumab. Objective: To assess the quality of life in relation to visual function in patients with age-related macular degeneration treated with Bevacizumab, at the ICO "Ramón Pando Ferrer", from January 2019 to May 2021. Methods: Prospective longitudinal descriptive study. The sample was 52 patients and the NEI VFQ-25 questionnaire was applied before and after three doses of the intravitreal drug. Results: Female gender predominated, the most represented age group was 60 to 79 years, the most frequent systemic disease was hypertension and the most frequent ocular disease was cataract. Almost all patients gained more than two lines in the Snellen chart, 42.3 percent presented a gain of 3 lines or more. The result of most of the items explored by the test, as well as the total visual function is statistically significant. Conclusions: There was an improvement in quality of life relative to visual function in patients after being treated with Bevacizumab. There was no directly proportional relationship between improved post-treatment visual acuity and improvement in total visual function(AU)

Influencia del tratamiento intravítreo en la presión intraocular en pacientes con glaucoma y degeneración macular / Influence of Intravitreal Treatment on Intraocular Pressure in Patients with Glaucoma and Macular Degeneration

En los últimos años, la aparición de los fármacos antiangiogénicos ha revolucionado el tratamiento de numerosas enfermedades de la retina, su asociación con la hipertensión ocular tras las inyecciones ha sido objeto de estudio en numerosas ocasiones. Se presenta un caso clínico de una paciente con glaucoma y degeneración macular asociada a la edad con la que se estudió la relación entre la administración de antiangiogénicos intravítreos y la elevación de la presión intraocular, a corto y largo plazo. La administración de fármacos antiangiogénicos es en la actualidad el procedimiento oftalmológico más empleado en las consultas de todo el mundo. La administración de intravítreas se ha asociado a la producción de un pico hipertensivo transitorio en el momento agudo y a la elevación de la presión intraocular a largo plazo. Un estrecho intervalo entre inyecciones ( 7 al año), pacientes con cámara estrecha, fáquicos y con diagnóstico previo de glaucoma son los principales factores de riesgo para el desarrollo de una elevación sostenida de presión intraocular tras el tratamiento intravítreo con antiangiogénicos. Identificar a los pacientes con alto riesgo de desarrollar hipertensión ocular tras el uso de inyecciones intravítreas y adoptar medidas que reduzcan dicho riesgo, como la administración de hipotensores tópicos antes de la inyección, es fundamental para mejorar su salud visual. Se presenta el caso de una paciente de 78 años de edad con diagnóstico de glaucoma primario de ángulo abierto de cinco años de evolución en ambos ojos(AU)

In recent years, the emergence of antiangiogenic drugs has revolutionized the treatment of numerous retinal diseases, their association with ocular hypertension after injections has been the subject of study on numerous occasions. We present a clinical case of a patient with glaucoma and age-related macular degeneration in which the relationship between the administration of intravitreal antiangiogenic drugs and the elevation of intraocular pressure, in the short and long term, was studied. The prescribing of antiangiogenic drugs is currently the most widely used ophthalmologic procedure in practices worldwide. Intravitreal administration has been associated with the production of a transitory hypertensive peak in the acute setting and long-term elevation of intraocular pressure. A narrow interval between injections ( 7 per year), patients with narrow chamber, phakic and with a previous diagnosis of glaucoma are the main risk factors for the development of sustained intraocular pressure elevation after intravitreal treatment with antiangiogenics. Identifying patients at high risk of developing ocular hypertension after intravitreal injections and adopting measures to reduce this risk, such as the administration of topical hypotensives before the injection, is essential to improve their eyesight health. The case of a 78-year-old female patient with a diagnosis of primary open-angle glaucoma of five years of evolution in both eyes is presented(AU)

Pseudodrusen reticulares y degeneración macular asociada a la edad / Pseudodrusen reticularis and age-related macular degeneration

Objetivo: Identificar la relación de los pseudodrusen reticulares con la degeneración macular asociada a la edad mediante imágenes tomográficas. Método: Estudio observacional, descriptivo y transversal en pacientes con pseudodrusen reticulares atendidos en consulta de retina a los que se les realizó tomografía de coherencia óptica espectral desde enero de 2009 hasta diciembre de 2014 en el Instituto Cubano de Oftalmología "Ramón Pando Ferrer". La población estuvo constituida por 69 pacientes de 55 años y más con pseudodrusen reticulares en dichas imágenes. Resultados: Los pseudodrusen predominaron en pacientes con edades comprendidas entre los 70 y 79 años para un 49,3 por ciento. El sexo femenino fue el más numeroso con un 76,8 por ciento. De los 122 ojos con pseudodrusen, 86 presentaron algún signo de degeneración macular asociada a la edad representado por el 70,5 por ciento. El 58,1 por ciento de estos últimos tuvo la forma avanzada. La membrana neovascular tipo II fue la más frecuente con un 58,0 por ciento. El grosor coroideo se estimó disminuido en el 77,9 por ciento de los casos. Conclusiones: Los pseudodrusen reticulares mantienen una relación directa con la degeneración macular asociada a la edad e influyen en la progresión de esta(AU)

Objective: To identify the relationship of reticular pseudodrusen with age-related macular degeneration using tomographic imaging. Methods: An observational, descriptive and cross-sectional study was conducted in patients with reticular pseudodrusen seen in retina consultation who underwent spectral optical coherence tomography from January 2009 to December 2014 at the Cuban Institute of Ophthalmology "Ramón Pando Ferrer". The population consisted of 69 patients aged 55 years and older with reticular pseudodrusen in these images. Results: Pseudodrusen predominated in patients between 70 and 79 years of age (49.3 percent). The female gender was the most numerous with 76.8 percent. Out of the 122 eyes with pseudodrusen, 86 showed some sign of age-related macular degeneration (70.5 percent). Out of the latter, 58.1 percent had the advanced form. Type II neovascular membrane was the most frequent with 58.0 percent. Choroidal thickness was estimated decreased in 77.9 percent of cases. Conclusions: Reticular pseudodrusen maintain a direct relationship with age-related macular degeneration and influence its progression(AU)

Protocolo Clínico e Diretrizes Terapêuticas da Degeneração Macular Relacionada à Idade (forma neovascular) / Clinical Protocol and Therapeutic Guidelines of macular degeneration related to age (neovascular form)

CONTEXTO: Os PCDT são documentos que visam garantir o melhor cuidado de saúde diante do contexto brasileiro e dos recursos disponíveis no SUS. Podem ser utilizados como materiais educativos aos profissionais de saúde, auxílio administrativo aos gestores, regulamentação da conduta assistencial perante o Poder Judiciário e explicitação de direitos aos usuários do SUS. Os PCDT são os documentos oficiais do SUS que estabelecem critérios para o diagnóstico de uma doença ou agravo à saúde; tratamento preconizado, com os medicamentos e demais produtos apropriados, quando couber; posologias recomendadas; mecanismos de controle clínico; e acompanhamento e verificação dos resultados terapêuticos a serem seguidos pelos gestores do SUS. Os PCDT devem incluir recomendações de condutas, medicamentos ou produtos para as diferentes fases evolutivas da doença ou do agravo à saúde de que se tratam, bem como aqueles indicados em casos de perda de eficácia e de surgimento de intolerância ou reação adversa relevante,

Caractéristiques cliniques de la dégénérescence maculaire chez les personnes vivant avec le VIH / Clinical characteristics of macular degeneration in people living with HIV

Objectif : Décrire les caractéristiques cliniques de la dégénérescence maculaire (DM) chez les personnes vivant avec le VIH (PVVIH).Patients et méthodes : Il s'agissait d'une étude observationnelle menée dans le service d'infectiologie du CHU de Libreville. Il était inclus les adultes âgés de plus de 17 ans, vivant avec le VIH (PVVIH) type 1 et ayant le même protocole thérapeutique antirétroviral. Les paramètres recueillis étaient l'âge, le sexe, le taux de CD4, l'ancienneté de l'infection au VIH, le délai de mise sous traitement antirétroviral et les lésions rétiniennes en rapport avec la DM. Les paramètres des PVVIH sans DM (DM-) étaient comparés à ceux avec DM (DM+) (p < 0,05). Résultats : L'enquête avait concerné 772 personnes vivant avec le VIH (PVVIH) dont 30 avaient présenté une DM+, soit une fréquence de 4%. La moyenne d'âge des DM+ était de 50,3 ± 12,8 ans et celle des DM- de 44,9 ± 10,8 ans (0,0083).Le sex-ratio était de 0,3 chez les DM+ et de 0,24 chez les DM- (p = 0,5950). Parmi les DM+, 28 avaient une forme intermédiaire et 2 une forme tardive. Il n'existait pas de différence significative entre l'ancienneté de l'infection à VIH (p = 0,1599), le taux de CD4 (p = 0,8666) et le délai de mise sous traitement antirétroviral (p = 0,9040) entre les deux groupes (DM+, DM- ).Conclusion : Ce travail permet de constater que la dégénérescence maculaire chez les PVVIH est fréquente et précoce,avec une prédominance de la forme intermédiaire

Objective: To describe the clinicals characteristics of macular degeneration (MD) in people living with HIV.Patients and methods: This was an observational study carried out in the infectious disease department of the University Hospital of Libreville. It was included adults over the age of 17, living with type 1 HIV (PLHIV) and having the same antiretroviral therapy protocol. The parameters collected were age, gender, CD4 count, age of HIV infection, time to antiretroviral treatment, and retinal lesions related to MD. The PLHIV were divided into two groups, those without MD (MD-) and those with MD (MD+ ) (p <0.05).Results: The survey concerned 772 people living with HIV (PLHIV), of whom 30 presented with MD+, either a frequency of 4%. The mean age of DM+ was 50.3 ± 12.8 years and that of MD- 44.9 ± 10.8 years (0.0083). The sex ratio was 0.3 in DM+ and 0.24 in DM- (p = 0.5950). Of the MD+, 28 had an intermediate form and 2 had a late form. There was no significant difference between the age of HIV infection (p = 0.1599), CD4 count (p = 0.8666) and time to antiretroviral treatment (p = 0.9040) between the two groups (MD+, MD-).Conclusion: This work has shown that macular degeneration in PLHIV is frequent and early, with a predominance of theintermediate form

Epidemiologia e prevalência da maculopatia miópica em centro de referência em oftalmologia / Epidemiology and prevalence of myopic maculopathy in an ophthalmology reference center

RESUMO Objetivo: Determinar a epidemiologia e a prevalência da maculopatia miópica e da miopia patológica e os fatores de risco associados. Métodos: Trata-se de estudo observacional transversal retrospectivo realizado em um serviço de oftalmologia, com 59 pacientes com idade entre 7 e 70 anos e equivalente esférico maior que -6 dioptrias. Suas retinografias foram laudadas segundo a classificação META-PM, por dois oftalmologistas e um retinólogo experiente. A análise estatística foi realizada conforme o Matlab R2010, com o Excel 2010 e o Statistical Package for the Social Sciences , versão 20.0, sendo utilizado o resultado da análise de regressão logística binária múltipla. Resultados: De acordo com a META-PM, a prevalência da maculopatia miópica nos cem olhos analisados foi de 19% para C0, 53% para C1,18% para C2,2% para C3 e 8% para C4. A prevalência da miopia patológica foi de 39%, sendo que 37% desses olhos possuíam maculopatia miópica C1 com lesões plus , C2 ou pior ou estafiloma posterior, e 2% apresentavam categoria menor que C2, sem lesões plus , porém com estafiloma posterior. A análise de regressão logística binária múltipla revelou associação entre idade e equivalente esférico com a presença da miopia patológica (p<0,05), evidenciando que o aumento de 1 ano na idade implicou em 1,05 vez (razão de chance de 1,05) mais chance de apresentar miopia patológica (p<0,001; intervalo de confiança de 95% de 1,02-1,08). O aumento de 1 dioptria no equivalente esférico maior que -6 dioptrias acarretou 1,19 vez (razão de chance de 1,19) maior risco de apresentar miopia patológica (p=0,001; intervalo de confiança de 95% de1,08-1,32). Por fim, não houve associação entre sexo e presença da miopia patológica (p=0,784). Conclusão: A classificação META-PM é uma ferramenta importante na padronização do estadiamento da lesão miópica, permitindo comparação entre estudos e normatização de condutas. O avançar da idade e o equivalente esféricomiópico estão relacionados à severidade da maculopatia miópica e à presença da miopia patológica.

ABSTRACT Objective: To determine the epidemiology and prevalence of myopic maculopathy and pathologic myopia and associated risk factors. Methods: This is a retrospective cross-sectional observational study performed at an ophthalmology center, including 59 patients aged 7 to 70 years, and spherical equivalent higher than -6 diopters. Their retinographies were assessed by two ophthalmologists and an experienced retina specialist, using the META-PM study classification. Statistical analysis was performed using Matlab R2010, Excel 2010 and Statistical Package for the Social Sciences version 20.0, based on the result of multiple binary logistic regression analysis. Results: According to META-PM, the prevalence of myopic maculopathy in 100 eyes analyzed was 19% C0; 53% C1; 18% C2; 2% C3; 8% C4. The prevalence of pathologic myopia was 39%, and 37% of these eyes having myopic maculopathy category C1 with lesions plus, C2 or worse, or posterior staphyloma, and 2% in category smaller than C2, without lesions plus, but with posterior staphyloma. Multiple binary logistic regression analysis revealed an association between age and spherical equivalent inpathologic myopia (p<0.05), demonstrating the increase by 1 year in age implied in 1.05-fold (odds ratio=1.05) more likelyto present pathologic myopia (p<0.001; 95%CI 1.02-1.08). The increase by 1 diopter in the spherical equivalent higherthan -6 diopters, led to 1.19-fold (odds ratio=1.19) greater risk of presenting pathologic myopia (p=0.001; 95%CI 1.08-1.32). Finally, there was no association between sex and pathologic myopia (p=0.784). Conclusion: The META-PM study classification is an important tool to standardize myopic lesion staging, allowing comparison between studies and establishing management. Advanced age and myopic spherical equivalent are related to severity of myopic maculopathy and pathologic myopia.

The Influence of Diabetes, Hypertension, and Hyperlipidemia on the Onset of Age-Related Macular Degeneration in North China: The Kailuan Eye Study / 生物医学与环境科学（英文）

Objective@#To analyze the prevalence of dry and wet age-related macular degeneration (AMD) in patients with diabetes, hypertension and hyperlipidemia, and to analyze the risk factors for AMD.@*Methods@#A population-based cross-sectional epidemiologic study was conducted involving 14,440 individuals. We assessed the prevalence of dry and wet AMD in diabetic and non-diabetic subjects and analyzed the risk factors for AMD.@*Results@#The prevalence of wet AMD in diabetic and non-diabetic patients was 0.3% and 0.5%, respectively, and the prevalence of dry AMD was 17% and 16.4%, respectively. The prevalence of wet AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 0.5%, 0.3%, 0.2%, and 0.7%, respectively. The prevalence of dry AMD in healthy, hypertensive, hyperlipidemic, and hypertensive/hyperlipidemic populations was 16.6%, 16.2%, 15.2%, and 17.2%, respectively. Age, sex, body mass index, and use of hypoglycemic drugs or lowering blood pressure drugs were corrected in the risk factor analysis of AMD. Diabetes, diabetes/hypertension, diabetes/hyperlipidemia, and diabetes/hypertension/hyperlipidemia were analyzed. None of the factors analyzed in the current study increased the risk for the onset of AMD.@*Conclusion@#There was no significant difference in the prevalence of wet and dry AMD among diabetic and non-diabetic subjects. Similarly, there was no significant difference in the prevalence of wet and dry AMD among subjects with hypertension and hyperlipidemia. Diabetes co-existing with hypertension and hyperlipidemia were not shown to be risk factors for the onset of dry AMD.

MA Hui-fang's experience in age-related macular degeneration treated with acupuncture at Jingming (BL 1) / 中国针灸

The paper introduces professor MA Hui-fang's experience in age-related macular degeneration treated with acupuncture at Jingming (BL 1). It is believed that the basic pathogenesis of this disease refers to liver and kidney insufficiency and weakness of spleen qi. Based on the academic ideas of yang qi and meridian-collateral system, the treatment principle is proposed as "invigorating yang qi, replenishing the liver and kidney and nourishing the spleen and stomach". Regarding acupoint selection, Jingming (BL 1) is specially used, combined with the 4 front-mu points (Zhongwan [CV 12], Guanyuan [CV 4] and bilateral Tianshu [ST 25]), as well as the empirical points for eye diseases (Jingming [BL 1], Baihui [GV 20] and Zulinqi [GB 41]). Concerning to needling technique, shuci (transport needling), fenci (intermuscular needling) and yuandaoci (distal needling) are dominated. Eventually, a set of unique therapeutic method has been accumulated through professor MA Hui-fang's clinical practice in treatment of age-related macular degeneration.

Definición diagnóstica en una familia con malattia leventinese en Colombia / Diagnostic definition of malattia leventinese in a family from Colombia

Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

Clinical and electroretinographic profile of 27 patients with Stargardt disease treated at a hospital in Brazil / Perfil clínico e eletrorretinográfico de 27 pacientes com doença de Stargardt atendidos em um hospital do Brasil

ABSTRACT Purpose: Stargardt disease is the most common type of juvenile-onset macular dystrophy. It is bilateral and symmetrical in appearance, affects the macula, and its main characteristic is the loss of central vision that starts in the first or second decade of life. The purpose of this study was to describe the profile of the patients evaluated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná, as well as describe the electroretinographic findings with the full-field electroretinogram in these patients. Methods: An observational, retrospective study was performed by analysis of records and electroretinographic examinations of 27 patients with Stargardt disease and fundus flavimaculatus who were treated at the Complexo Hospital de Clínicas da Universidade Federal do Paraná's Department of Ocular Electrophysiology and Neuro-Ophthalmology between 1997 and 2014. The patients included in this study presented clinical features, fundus examination and/or electroretinographic findings compatible with Stargardt disease. Results: The visual acuity in the best eye varied from 0 to 1.6 logMAR (20/20 to 20/800) with an average of 0.89 ± 0.42 logMAR. The age at onset of symptoms varied from since birth to 36 years old (average 19.2 ± 9.2) with the majority of patients having symptom onset in the first or second decade of life. The mean time from the disease's first symptoms until the diagnosis was 7.3 years. In the fundus examination, every patient presented some kind of abnormality. In the electroretinogram analysis, the majority of patients had results that differed from those of sample controls, i.e., reduced amplitude and increased implicit time in the photopic and scotopic phases. Conclusions: The visual acuity and the age at symptoms onset in this study were compatible with the natural history of this dystrophy. The typical fundus appearance of Stargardt disease and altered electroretinogram were more frequent because of the delay until diagnosis. New prospective studies are necessary to evaluate these patients based on emergent technologies.

RESUMO Objetivo: A doença de Stargardt é a forma mais comum de distrofia macular de início juvenil. É bilateral e simétrica em aparência, afeta a mácula e sua característica principal é a diminuição da visão central que geralmente inicia-se na primeira ou segunda década de vida. O objetivo do estudo é descrever o perfil clínico dos pacientes avaliados no Complexo Hospital de Clínicas da Universidade Federal do Paraná, bem como descrever os achados eletrorretinográficos destes pacientes com o eletrorretinograma de campo total. Métodos: Foi realizado um estudo observacional retrospectivo, baseado na análise de prontuários e eletrorretinograma de 27 pacientes com Doença de Stargardt e Fundus Flavimaculatus, atendidos em consulta oftalmológica no ambulatório de Eletrofisiologia Ocular e Neuro-Oftalmologia do Complexo Hospital de Clínicas da Universidade Federal do Paraná, entre 1997 e 2014. Os pacientes incluídos no estudo apresentavam quadro clínico, fundoscopia e/ou achados eletrorretinográficos compatíveis com a doença. Resultados: A acuidade visual no melhor olho variou de 0 a 1,6 logMAR (20/20 a 20/800), com média de 0,89 ± 0,42 logMAR. A idade de aparecimento dos sintomas variou desde o nascimento a 36 anos (19,2 ± 9,2), sendo a maioria nas 1ª e 2ª década de vida. Em relação ao tempo entre o início dos sintomas e o diagnóstico, a média foi de 7,3 anos. Na fundoscopia, todos os pacientes apresentaram alguma alteração. Na análise do eletrorretinograma, a maioria dos pacientes demonstrou resultados que diferem da amostra de pacientes controles, ou seja, amplitudes reduzidas e tempos de culminação aumentados nas fases fotópicas e escotópicas. Conclusões: A acuidade visual e idade de início de aparecimento dos sintomas encontrados neste estudo são compatíveis com a evolução desta distrofia. Achados fundoscópicos típicos da doença de Stargardt e eletrorretinograma alterados foram mais frequentes em decorrência do atraso no diagnóstico. Novos estudos prospectivos são necessários para avaliar estes pacientes, fundamentando-se em novas tecnologias.

Association between the L55M and Q192R polymorphisms of the paraoxonase-1 gene and age-related macular degeneration: a meta-analysis / Associação entre os polimorfismos L55M e Q192R do gene da paraoxonase1 e a degeneração macular relacionada à idade: uma meta-análise

ABSTRACT Purpose: Paraoxonase-1 activity is associated with age-related macular degeneration. Two polymorphisms (L55M and Q192R) were shown to increase paraoxonase-1 activity and have been implicated in the development of age-related macular degeneration. The results of studies that have examined these polymorphisms are conflicting, showing no effect, as well as increased or decreased risk. Therefore, this meta-analysis was conducted to determine the effect of these polymorphisms on age-related macular degeneration. Methods: PubMed, EBSCO, LILACS, and Scopus databases, as well as and the retrieved bibliographies of publications were searched for case-control studies that examined for paraoxonase-1 polymorphisms and age-related macular degeneration. Data were analyzed using the Comprehensive Meta-Analysis Version 2.2 and the NCSS Statistical Version 2020 software. Genotype distributions were extracted and, depending on the level of heterogeneity, fixed effects or random effects models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) for the heterozygous, homozygous, dominant, recessive, and allelic genetic models. Results: Overall, for the L55M polymorphism, none of the genetic models demonstrated a significant association. However, for non-Asian populations, a significant association was determined for the heterozygous and dominant genetic models (ORrange=1.24-1.27, p<0.05). For the Asian population, the heterozygous, dominant, and allelic genetic models demonstrated a benefit/protective factor (ORrange=0.29-0.35, p<0.05). For the Q192R polymorphism, none of the genetic models demonstrated a significant association. However, when the cohort was grouped by ethnicity, a significant association was determined in the Asian population for the recessive and allelic genetic models (ORrange=1.63-2.08, p<0.05). However, for the non-Asian population, there was no association observed. Also, there was no identifiable risk when the cohort was stratified into exudative and non-exudative cases. Conclusions: The paraoxonase-1L55M polymorphism increases the risk of developing age-related macular degeneration in non-Asian populations, whereas in Asian populations, the polymorphism exerts a protective effect. However, for the paraoxonase-1 Q192R polymorphism, only the Asian population demonstrated a risk of developing age-related macular degeneration.(AU)

RESUMO Objetivo: A atividade da paraoxonase1 está associada à degeneração macular relacionada à idade. Dois polimorfismos (L55M e Q192R) mostraram aumentar a atividade da paraoxonase1 e foram implicados no desenvolvimento da degeneração macular relacionada à idade. Os estudos que examinaram esses polimorfismos apresentaram resultados conflitantes: nenhum efeito, risco aumentado ou diminuído. Assim, esta meta-análise foi realizada para determinar o efeito desses polimorfismos na degeneração macular relacionada à idade. Métodos: Foi feita uma busca nos bancos de dados PubMed, EBSCO, LILACS e SCOPUS, bem como nas bibliografias compiladas das publicações, buscando-se estudos caso-controle que tivessem analisado os polimorfismos da paraoxonase1 e a degeneração macular relacionada à idade. Os dados foram analisados com software Comprehensive Meta-Analysis, versão 2.2, e NCSS Statistical, versão 2020. As distribuições de genótipos foram extraídas e, dependendo do nível de heterogeneidade, modelos de efeitos fixos ou aleatórios foram utilizados para calcular razões de probabilidade (RPs) combinadas, com intervalos de confiança de 95% (IC 95%) para os modelos genéticos heterozigoto, homozigoto, dominante, recessivo e alélico. Resultados: Em geral, nenhum dos modelos genéticos demonstrou associação significativa para o polimorfismo L55M. Entretanto, em populações não asiáticas, foi determinada uma associação significativa para os modelos genéticos heterozigoto e dominante (RPfaixa=1,24-1,27, p<0,05). Para a população asiática, os modelos heterozigoto, dominante e alélico mostraram um fator benéfico ou protetor (RPfaixa=0,29-0,35, p<0,05). Para o polimorfismo Q192R, nenhum dos modelos genéticos demonstrou qualquer associação significativa. Porém, quando a coorte foi agrupada por etnia, determinou-se uma associação significativa na população asiática para os modelos genéticos recessivo e alélico (RPfaixa=1,63-2,08, p<0,05). Contudo, nenhuma associação foi observada para a população não asiática. Não houve risco identificável quando a coorte foi estratificada em exsudativa e não exsudativa. Conclusões: Determinamos que o polimorfismo L55M da paraoxonase1 de fato aumenta o risco de desenvolvimento de degeneração macular relacionada à idade em populações não asiáticas, enquanto que em populações asiáticas, esse polimorfismo tem um efeito protetor. Porém, para o polimorfismo Q192R da paraoxonase1, apenas a população asiática demonstrou risco de desenvolver degeneração macular relacionada à idade.(AU)

Switch to aflibercept in the treatment of neovascular age-related macular degeneration: 30-month results / Mudança de tratamento para o aflibercepte no tratamento da Degeneração Macular neovascular Relacionada à Idade: resultados de 30 meses

ABSTRACT Purpose: This study was conducted to evaluate visual function and changes in the central macular thickness of patients with unresponsive neovascular age-related macular degeneration who were switched from ranibizumab (Lucentis®) to aflibercept (Eylea®) treatment at 30 months. Methods: This retrospective study examined patients with neovascular age-related macular degeneration who were switched to aflibercept after ≥6 previous intravitreal ranibizumab injections at 4- to 8-week intervals. All patients were switched to intravitreal aflibercept (2.0 mg) and analyzed after 3 consecutive injections followed by a prore nata dosing regimen and after 30 months of treatment. Best corrected visual acuity, biomicroscopic examination, intraocular pressure, fundus examination, and central macular thickness were recorded at the start of treatment, before the transition to intravitreal aflibercept treatment, and at 6, 12, 18, 24, and 30 months of intravitreal aflibercept treatment. Results: A total of 33 eyes met the inclusion criteria. The median age of the patients was 73.57 ± 7.98 years, and 21 (61.8%) patients were males and 12 (35.3%) were females. Before the transition, the patients received a mean of 16.8 ± 8.8 ranibizumab injections (range 6-38).After the transition to intravitreal aflibercept treatment, the mean number of aflibercept injections was 9.09 ± 3.94. No significant differences were observed in best corrected visual acuity after the aflibercept switch in any of the months. The central macular thickness was significantly decreased at 6, 12, 18, and 30 months (p=0.01, p=0.03, p=0.05, p=0.05, p<0.001, respectively). Conclusion: Patients with neovascular age-related macular degeneration who were switched to intravitreal aflibercept treatment due to unresponsiveness to intravitreal ranibizumab exhibited a significant anatomic improvement in the retina, and although this state persisted, there was no significant functional gain.(AU)

RESUMO Objetivo: Avaliar, depois de 30 meses, a função visual e as alterações na espessura macular central de pacientes com degeneração macular relacionada à idade sem resposta terapêutica ao ranibizumabe (Lucentis®) que mudaram seu tratamento para o aflibercepte (Eylea®). Métodos: Realizou-se um estudo retrospectivo de pacientes com degeneração macular neovascular relacionada à idade que mudaram o tratamento para o aflibercepte após 6 ou mais injeções intravítreas de ranibizumabe a intervalos de 4-8 semanas. Todos os pacientes mudaram para o aflibercepte intravítreo (2,0 mg) e depois de 3 injeções consecutivas, seguidas de um regime de dosagem pro re nata, foram avaliados após 30 meses de tratamento. A melhor acuidade visual corrigida, o exame biomicroscópico, a pressão intraocular, a fundoscopia e a espessura macular central foram registrados no início do tratamento, antes da transição para o tratamento com aflibercepte intravítreo e aos 6, 12, 18, 24 e 30 meses de tratamento com o aflibercepte intravítreo. Resultados: Satisfizeram aos critérios de inclusão 33 olhos. A mediana da idade dos pacientes foi de 73,57 ± 7,98 anos. Dos pacientes, 21 (61,8%) eram homens e 12 (35,3%) eram mulheres. Antes da transição para o tratamento com o aflibercepte intravítreo, os pacientes receberam em média 16,8 ± 8,8 injeções de ranibizumabe (faixa 6-38).Depois da transição, o número médio de injeções de aflibercepte foi de 9,09 ± 3,94. Não houve diferenças significativas na melhor acuidade visual corrigida depois da mudança para o aflibercepte em qualquer das avaliações. Houve diminuição significativa da espessura macular central aos 6, 12, 18 e 30 meses (respectivamente, p=0,01, p=0,03, p=0,05, p=0,05 e p<0,001). Conclusão: Pacientes com degeneração macular neovascular relacionada à idade que mudaram seu tratamento para o aflibercepte intravítreo devido à falta de resposta ao ranibizumabe intravítreo, tiveram melhora anatômica significativa da retina; mas embora esse estado tenha persistido, não foi observado nenhum ganho funcional significativo.(AU)

Maculopatía en ojo de buey por uso de cloroquina. Presentación de un caso / Maculopathy in bull's eye due to the use of chloroquine. Presentation of a case

RESUMEN Se reportó el caso de un paciente con maculopatía en ojo de buey, asociada al uso de cloroquina. El uso de cloroquina en patologías reumatológicas puede provocar daño retinal relacionado con la dosis y el tiempo de evolución del tratamiento. Puede provocar desde afectación visual leve hasta daño irreversible de la visión, lo que depende del tiempo en que se realice el diagnóstico. Se presentó una paciente de 72 años, con diagnóstico de artritis reumatoide desde hace 21 años y tratamiento con cloroquina desde hace 15. Acudió a consulta con disminución de la visión lenta y progresiva bilateral. En el examen oftalmológico de fondo de ojo se diagnosticó maculopatía en ojo de buey. Este diagnóstico se confirmó por estudios de autofluorescencia y por la tomografía de coherencia óptica (AU).

ABSTRACT A case is reported of a patient with maculopathy in bulls' eye associated to the use of chloroquine. The use of chloroquine associated with rheumatologic diseases can cause retinal damage related to the dose and the time of treatment evolution. It can cause from mild visual impairment to irreversible vision damage depending on the time the diagnosis is made. A 72-year-old female patient is presented with a diagnosis of rheumatoid arthritis for 21 years and treatment with chloroquine for 15 years. She assisted the consultation with a slow and progressive bilateral vision decrease; at the ophthalmological examination of the fundus a maculopathy in bull's eye was diagnosed, later confirmed by auto fluorescence and optical coherence tomography studies (AU).

Protocolo assistencial de injeções intravítreas do HCPA: degeneração macular relacionada com a idade na forma neovascular / Intravitreal injections for age-related macular degeneration: an HCPA care protocol

A degeneração macular relacionada com a idade na forma neovascular é uma das principais causas de cegueira no mundo e a segunda indicação mais frequente de injeções intravítreas no Hospital de Clínicas de Porto Alegre. O tratamento com injeção intra-vítrea de medicamentos supressores do fator de crescimento endotelial (anti-vascular endothelial growth factor, anti-VEGF), incluindo o bevacizumabe, revolucionou o desfecho visual destes pacientes às custas de múltiplas aplicações mensais. Assim como em outros centros, discrepâncias entre condutas da equipe assistencial e dificuldades logísticas acabam comprometendo a efetividade do tratamento. Portanto, desenvolvemos um protocolo de tratamento para a DMRI-n embasado na literatura, estabelecendo critérios de inclusão, exclusão, regime de tratamento e seguimento do paciente. Com isto, esperamos otimizar a efetividade e assistência do paciente com DMRI-n. (AU)

Age-related macular degeneration in the neovascular form is one of the main causes of blindness in the world and the second most frequent indication of intravitreal injections at Hospital de Clínicas de Porto Alegre. Treatment with intravitreal injection of antivascular endothelial growth factor agents, including bevacizumab, revolutionized the visual outcome of these patients at the expense of multiple monthly applications. As in other centers, discrepancies in care team's approaches and logistical difficulties compromise the effectiveness of treatment. Therefore, we developed a treatment protocol for neovascular age-related macular degeneration (nAMD) based on the literature, establishing criteria for inclusion, exclusion, treatment regimen and patient follow-up. We hope to optimize the effectiveness of treatment in patients with nAMD. (AU)

Inyección de gas intravítreo combinada con fotocoagulación con láser de argón para el tratamento de la maculopatía de la foseta del disco óptico sin vitrectomía / Intravitreal gas injection combined with argon laser photocoagulation for treatment of optic disc pit maculopathy without vitrectomy

RESUMEN Presentamos el caso de un paciente con foseta del disco óptico, quien presentó una disminución de la agudeza visual secundaria a desprendimiento seroso de retina. Se decidió realizar una inyección intravítrea de 0.3ml de gas C3F8 (100%), seguida de fotocoagulación con láser de argón en el borde temporal de la foseta, logrando reaplicación total de la retina, con reabsorción de todo el líquido subretiniano visible en la tomografía de coherencia optica (OCT) luego de 400 días. Además hubo una mejoría significativa en la agudeza visual.

ABSTRACT We present the case of a patient with an optic disk pit, presenting with great loss of visual acuity secondary to serous retinal detachment. The management chosen was an intravitreal injection of 0.3 mL of C3F8 (100%), followed by argon laser photocoagulation on the temporal edge of the pit, ), achieving total retinal reattachment , and reabsorption of all subretinal fluid visible at optical coherence tomography after 400 days, in addition to great improvement in visual acuity.

Age-related macular degeneration: an overview / Degeneração macular relacionada à idade: um panorama geral

ABSTRACT Age-related macular degeneration is the most important cause of irreversible vision loss in the elderly and has been considered a severe public health problem. Current treatments have only been successful in delaying the loss of central vision. Due to increased life expectancy, governments and researchers have been challenged to seek more efficient and successful treatments for age-related macular degeneration. Considering its relevance for public health and the need of further research, this article aims to address age-related macular degeneration objectively, tackling on the current knowledge about its pathophysiology, potential molecular biomarkers, main prevention procedures and treatments, as well as introducing possible molecules that may be a therapeutic target in this disease.

RESUMO Degeneração macular relacionada à idade é a causa mais importante de perda irreversível da visão em idosos, e é considerada um sério problema de saúde pública. Os tratamentos atuais são bem-sucedidos apenas ao postergar a perda da visão central. Devido à maior expectativa de vida, os governos e pesquisadores têm dificuldade de encontrar tratamentos mais eficientes e exitosos para degeneração macular relacionada à idade. Considerando sua relevância para saúde pública e a necessidade de mais pesquisas, este artigo procura abordar a degeneração macular relacionada à idade de forma objetiva, abordando os conhecimentos atuais sobre sua fisiopatologia, potenciais biomarcadores moleculares, principais procedimentos de prevenção e tratamentos, e apresentar possíveis moléculas que podem ser alvo terapêutico nessa doença.