Documento: RD-gdl 0010 GER Portugal versão 1.2 Out-2023 (Este Documento esteve em discussão no GER e na SPO até 31 de Outubro de 2023 para recolha de opinião de todos os interessados de forma a melhorar o seu conteúdo e obter o maior consenso possível. A todos os colegas que deram o seu contributo, o grupo de trabalho agradece a colaboração.)
Purpose: The most widely used classifications of age-related macular degeneration (AMD) and its severity stages still rely on color fundus photographs (CFPs). However, AMD has a wide phenotypic variability that remains poorly understood and is better characterized by OCT. We and others have shown that patients with AMD have a distinct plasma metabolomic profile compared with controls. However, all studies to da...
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...
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...
Age-related macular degeneration (AMD) is a leading cause of blindness in older adults. Investigating shared genetic components between metabolites and AMD can enhance our understanding of its pathogenesis. We conduct metabolite genome-wide association studies (mGWASs) using multi-ethnic genetic and metabolomic data from up to 28,000 participants. With bidirectional Mendelian randomization analysis involving 16...
Introduction: Exposure to blue light has seriously increased in our environment since the arrival of light emitting diodes (LEDs) and, in recent years, the proliferation of digital devices rich in blue light. This raises some questions about its potential deleterious effects on eye health. The aim of this narrative review is to provide an update on the ocular effects of blue light and to discuss the efficiency ...
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 ...
CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients...
Introduction: To date several genetic variants are known to play an important role in age-related macular degeneration(AMD). Variations in the genetic pool of different populations impact the disease prevalence, incidence and risk of progression. This report aims to determine the genetic contribution in the development of AMD in a Portuguese population from the Coimbra Eye Study (CES,NCT01298674,NCT02748824), a...
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...