Publications by authors named "Milly Tedja"
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
View Article and Find Full Text PDFPurpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Although common variants explain part of the genetic predisposition (18%), most of the estimated 70% heritability is missing. Here, we investigate the contribution of rare genetic variation because this might explain more of the missing heritability in the more severe forms of myopia.
View Article and Find Full Text PDFRefractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing.
View Article and Find Full Text PDFArticle Synopsis
- High myopia is increasingly common globally, leading to a rise in vision-related issues; however, research on its complications in Europeans is limited.
- The study aimed to evaluate the prevalence of myopic macular features among Europeans with high myopia, involving 626 patients from the Dutch Myopia Study and the Rotterdam Study.
- Results showed that 25.9% had myopic macular degeneration, which was more prevalent in older individuals, those with lower spherical equivalent refractive errors, and greater axial length.
Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
Invest Ophthalmol Vis Sci
August 2021
Article Synopsis
- The study investigates the impact of the GJD2 gene on myopia (nearsightedness) across different age groups, looking specifically at its relationship with refractive error and eye measurements.
- Using data from three major population studies, researchers measured various eye metrics (like spherical equivalent and axial length) in relation to different GJD2 genotypes and assessed lifestyle factors' effects.
- Results showed that individuals with two risk alleles had worse eye measurements, indicating a dose-response effect that begins in early childhood, suggesting that this gene could significantly influence the development of myopia.
Purpose: The International Myopia Institute (IMI) Yearly Digest highlights new research considered to be of importance since the publication of the first series of IMI white papers.
Methods: A literature search was conducted for articles on myopia between 2019 and mid-2020 to inform definitions and classifications, experimental models, genetics, interventions, clinical trials, and clinical management. Conference abstracts from key meetings in the same period were also considered.
Article Synopsis
- Nuclear cataract is the most prevalent type of cataract related to aging, contributing significantly to blindness globally.
- Researchers conducted a large multi-ethnic study with over 19,000 participants to identify genetic factors linked to this condition.
- They confirmed the association of the CRYAA gene and discovered five new genetic loci related to age-related nuclear cataract, highlighting the connection between this condition and genes involved in eye development.
Purpose: To determine the risk between degree of myopia and myopic macular degeneration (MMD), retinal detachment (RD), cataract, open angle glaucoma (OAG), and blindness.
Methods: A systematic review and meta-analyses of studies published before June 2019 on myopia complications. Odds ratios (OR) per complication and spherical equivalent (SER) degree (low myopia SER < -0.
Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error.
View Article and Find Full Text PDFArticle Synopsis
- Corneal curvature is a key genetic factor related to myopia, which can lead to severe visual impairment and blindness globally.
- Researchers conducted a large study involving over 132,000 individuals from Caucasian and Asian backgrounds to find genetic loci affecting corneal curvature.
- The study identified 47 genetic locations, including 26 new ones, that influence corneal curvature and eye elongation, shedding light on how these genes might affect myopia risk and eye development.
Article Synopsis
- The study aimed to determine if emmetropization (the process by which the eye adjusts to maintain clear vision) helps protect against the effects of genetic and environmental factors that contribute to myopia (nearsightedness).
- Researchers evaluated refractive error in children from two different studies, using both genetic data and questionnaire responses to identify various risk factors such as parental myopia and time spent reading or outdoors.
- Results showed that risk factors had a significantly stronger impact on children with extreme refractive errors compared to those with normal vision, suggesting that emmetropization helps mitigate the risks of developing myopia.
Purpose: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM).
Methods: A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study.
Article Synopsis
- The study aimed to analyze the genetic connections between common myopia and primary open-angle glaucoma (POAG) using two different research groups.
- Researchers tested various polygenic risk scores (PRSs) derived from large genetic studies but found no significant associations between myopia PRS and POAG or its measured traits such as intraocular pressure.
- While no genetic overlap between myopia and POAG was established, a noteworthy connection was found between myopia and the size of the optic disc, affirming the effectiveness of the research methods used.
Myopia is a refractive error of the eye caused by a complex interplay between nature and nurture. The aim of this study was to investigate whether environmental risk factors can influence the genetic effect in children developing myopia. A total of 3422 children participating in the birth-cohort study Generation R underwent an extensive eye examination at 9 years with measurements of refractive error and axial length corneal radius ratio (AL/CR).
View Article and Find Full Text PDFThe knowledge on the genetic background of refractive error and myopia has expanded dramatically in the past few years. This white paper aims to provide a concise summary of current genetic findings and defines the direction where development is needed. We performed an extensive literature search and conducted informal discussions with key stakeholders.
View Article and Find Full Text PDFArticle Synopsis
- Refractive errors, like myopia, are common eye disorders linked to blindness, and a large genetic study expanded the understanding of their genetic basis from 37 to 161 independent signals among over 255,000 participants.
- The study revealed significant genetic similarities between Europeans and Asians while identifying important cellular processes in the retina that contribute to these visual conditions.
- Additionally, the research uncovered new genes related to mechanisms such as synaptic neurotransmission and vascular development, highlighting a light-dependent signaling pathway that could explain how refractive errors develop.
Purpose: To identify genes and genetic markers associated with corneal astigmatism.
Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.
Importance: Myopia (ie, nearsightedness) is becoming the most common eye disorder to cause blindness in younger persons in many parts of the world. Visual impairment due to myopia is associated with structural changes of the retina and the globe because of elongation of the eye axis. How axial length-a sum of the anterior chamber depth, lens thickness, and vitreous chamber depth-and myopia relate to the development of visual impairment over time is unknown.
View Article and Find Full Text PDFArticle Synopsis
- Neurons in the medial nucleus of the trapezoid body in young rats show distinct firing patterns, transitioning from burst firing triggered by multiple small inputs at early postnatal days (P2-4) to firing based on single large inputs by later stages (P5).
- Developmental changes show that action potentials in younger rats are triggered by several excitatory postsynaptic potentials (EPSPs) that combine to create plateau potentials, while older rats rely on larger, singular inputs from the emerging calyx of Held.
- A Hodgkin-Huxley-like model simulation indicates that low-threshold potassium conductance plays a critical role in this transition from a burst firing pattern to a more stable, single spike firing as the calyx develops.
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry.
View Article and Find Full Text PDF