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Common and rare genetic risk variants in age-related macular degeneration and g...

Farinha, Cláudia; Barreto, Patrícia; Coimbra, Rita; Cachulo, Maria da Luz; Melo, Joana Barbosa; Cunha-Vaz, José; Lechanteur, Yara; Hoyng, Carel B.

Purpose: To determine the contribution of common and rare genetic variants in age-related macular degeneration (AMD) in a Portuguese population from the Coimbra Eye Study (CES), and the genetic risk score (GRS). Methods: Participants underwent ophthalmologic examination and imaging. A centralized reading centre performed AMD staging. Genetic sequencing was carried out with the EYE-RISK assay. Sixty-nine single ...


Interaction between genetics and the adherence to the Mediterranean diet: the r...

Barreto, Patrícia; Farinha, Cláudia; Coimbra, Rita; Cachulo, Maria da Luz; Melo, Joana Barbosa; Lechanteur, Yara; Hoyng, Carel B.; Cunha-Vaz, José

Background Age-related macular degeneration (AMD) is a multifactorial degenerative disease of the macula. Different factors, environmental, genetic and lifestyle, contribute to its onset and progression. However, how they interconnect to promote the disease, or its progression, is still unclear. With this work, we aim to assess the interaction of the genetic risk for AMD and the adherence to the Mediterranean d...


Genética e Dieta Mediterrânica: Qual o Risco para a Degenerescência Macular da ...

Barreto, Patrícia; Farinha, Cláudia; Coimbra, Rita; Cachulo, Maria Luz; Barbosa Melo , Joana; Lechanteur , Yara; B. Hoyng , Carel; Cunha-Vaz, José

INTRODUÇÃO: A degenerescência macular da idade (DMI) é uma doença degenerativa da mácula, responsável por perda de visão grave. Factores genéticos e ambientais podem contribuir para a doença. Alguns estudos já sugeriram que a dieta mediterrância pode ser protectora da do- ença, mas o estudo da interacção entre a dieta e a genética é limitado. O nosso objetivo foi avaliar o efeito da adesão à di...


A 5-year longitudinal study of macular atrophy

Pinheiro, Rosa Lomelino; Farinha, Cláudia; Cachulo, Maria da Luz; Soares, Mário; Melo, Pedro; Murta, Joaquim; Silva, Rufino

Macular atrophy (MA) is one of the late stages of age-related macular degeneration (AMD) and leads to irreversible loss of visual function. During the past years, efforts have been made towards a more detailed comprehension of the characteristics of MA, and a panel of retina specialists has recently established a new classification system to describe atrophy in the context of neovascular AMD, by the CONAN group...


Central Serous Chorioretinopathy: Long-Term Results After Photodynamic Therapy

Sousa Pereira, Pedro Nuno; Ferreira, Sofia Catalão; Soares, Mário; Melo, Pedro; Farinha, Cláudia; Marques, João Pedro; Pires, Isabel; Cachulo, Maria Luz

Introduction: Central serous chorioretinopathy (CSC) is an idiopathic syndrome characterized by neurosensory detachments of the retina. Development of chronic CSC is an indication to treat, and ICGA-guided verteporfin photodynamic therapy has been shown to be very effective.   Our objective was to evaluate the 13-year follow-up of chronic CSC patients treated with standard-fluence PDT and to explore the long-te...


Genetic risk variants for Age-related Macular Degeneration in a Portuguese popu...

Coimbra, Rita Alexandra; Farinha, Cláudia; Barreto, Patrícia; Madeira, Maria H.; Silva, Rufino

Introduction: Age-related macular degeneration (AMD) is a progressive degenerative disease of the central area of the retina, the macula, which is responsible for central vision. It is a multifactorial disease, strongly influenced by a combination of environmental factors (such as age, smoking, lifestyle, diet) and genetic factors. In 2016, the largest genome-wide association study (GWAS) in AMD was published a...


Age-Related Macular Degeneration Staging by Color Fundus Photography vs. Multim...

Farinha, Cláudia; Cachulo, Maria da Luz; Coimbra, Rita; Alves, Dalila; Nunes, Sandrina; Pires, Isabel; Marques, João Pedro; Costa, José; Martins, Amélia

Epidemiology of age-related macular degeneration (AMD) is based on staging systems relying on color fundus photography (CFP). We aim to compare AMD staging using CFP to multimodal imaging with optical coherence tomography (OCT), infra-red (IR), and fundus autofluorescence (FAF), in a large cohort from the Epidemiologic AMD Coimbra Eye Study. All imaging exams from the participants of this population-based study...


Genetic characterization of AMD patients – Preliminary results of the Coimbra E...

Coimbra, Rita Alexandra; Farinha, Cláudia; Barreto, Patrícia; Nunes, Sandrina; Silva, Rufino


Optical coherence tomography leakage in neovascular age-related macular degener...

Farinha, Cláudia; Santos, Torcato; Santos, Ana Rita; Lopes, Marta; Alves, Dalila; Silva, Rufino; Cunha-Vaz, José

Optical coherence tomography leakage identified and quantified the fluid related to choroidal neovascularization activity. Low optical reflectivity change in the outer segment layer correlates with functional outcome and increasing LOR in the external layers may be a marker of early recurrence. Combining optical coherence tomography angiography and optical coherence tomography leakage allows both for choroidal ...


Ranibizumab for the treatment of diabetic macular oedema in the real-world clin...

Farinha, Cláudia; Martins, Amélia; Neves, Arminda; Soares, Raquel; Ruão, Miguel; Ornelas, Mário; Neves, Pedro; Rodrigues, Filipa Gomes

Purpose: The purpose of this study was to evaluate the 2-year outcome of ranibizumab for diabetic macular oedema (DME) in the real-life clinical practice of five ophthalmology departments of the National Health Service (NHS) in Portugal. Methods: This is a retrospective multicentre study. The clinical records on consecutive patients with DME from clinical practice treated with 0.5 mg intravitreal ranibizumab an...


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