Macular degenerationMacular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. While it does not result in complete blindness, loss of central vision can make it hard to recognize faces, drive, read, or perform other activities of daily life. Visual hallucinations may also occur.
Gene polymorphismA gene is said to be polymorphic if more than one allele occupies that gene's locus within a population. In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at least 1% to generally be considered polymorphic. Gene polymorphisms can occur in any region of the genome. The majority of polymorphisms are silent, meaning they do not alter the function or expression of a gene. Some polymorphisms are visible.
Polymorphism (biology)In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating). Put simply, polymorphism is when there are two or more possibilities of a trait on a gene. For example, there is more than one possible trait in terms of a jaguar's skin colouring; they can be light morph or dark morph.
PhenotypeIn genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code (its genotype) and the influence of environmental factors. Both factors may interact, further affecting the phenotype.
Phenotypic traitA phenotypic trait, simply trait, or character state is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two. For example, having eye color is a character of an organism, while blue, brown and hazel versions of eye colour are traits. The term trait is generally used in genetics, often to describe phenotypic expression of different combinations of alleles in different individual organisms within a single population, such as the famous purple vs.
Quantitative trait locusA quantitative trait locus (QTL) is a locus (section of DNA) that correlates with variation of a quantitative trait in the phenotype of a population of organisms. QTLs are mapped by identifying which molecular markers (such as SNPs or AFLPs) correlate with an observed trait. This is often an early step in identifying the actual genes that cause the trait variation. A quantitative trait locus (QTL) is a region of DNA which is associated with a particular phenotypic trait, which varies in degree and which can be attributed to polygenic effects, i.
HeritabilityHeritability is a statistic used in the fields of breeding and genetics that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is not explained by the environment or random chance?" Other causes of measured variation in a trait are characterized as environmental factors, including observational error.
Single-nucleotide polymorphismIn genetics and bioinformatics, a single-nucleotide polymorphism (SNP snɪp; plural SNPs snɪps) is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population (generally regarded as 1% or more). For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles.
Genome-wide association studyIn genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.
Genome-wide complex trait analysisGenome-wide complex trait analysis (GCTA) Genome-based restricted maximum likelihood (GREML) is a statistical method for variance component estimation in genetics which quantifies the total narrow-sense (additive) contribution to a trait's heritability of a particular subset of genetic variants (typically limited to SNPs with MAF >1%, hence terms such as "chip heritability"/"SNP heritability").
Quantitative geneticsQuantitative genetics deals with quantitative traits, which are phenotypes that vary continuously (such as height or mass)—as opposed to discretely identifiable phenotypes and gene-products (such as eye-colour, or the presence of a particular biochemical). Both branches use the frequencies of different alleles of a gene in breeding populations (gamodemes), and combine them with concepts from simple Mendelian inheritance to analyze inheritance patterns across generations and descendant lines.
Eye examinationAn eye examination is a series of tests performed to assess vision and ability to focus on and discern objects. It also includes other tests and examinations pertaining to the eyes. Eye examinations are primarily performed by an optometrist, ophthalmologist, or an orthoptist. Health care professionals often recommend that all people should have periodic and thorough eye examinations as part of routine primary care, especially since many eye diseases are asymptomatic.
Fundus photographyFundus photography involves photographing the rear of an eye, also known as the fundus. Specialized fundus cameras consisting of an intricate microscope attached to a flash enabled camera are used in fundus photography. The main structures that can be visualized on a fundus photo are the central and peripheral retina, optic disc and macula. Fundus photography can be performed with colored filters, or with specialized dyes including fluorescein and indocyanine green.
Dilated fundus examinationDilated fundus examination or dilated-pupil fundus examination (DFE) is a diagnostic procedure that employs the use of mydriatic eye drops (such as tropicamide) to dilate or enlarge the pupil in order to obtain a better view of the fundus of the eye. Once the pupil is dilated, examiners use ophthalmoscopy (funduscopy) to view the eye's interior, allowing assessment of the retina, optic nerve head, blood vessels, and other features. They also often use specialized equipment such as a fundus camera.
AMDAdvanced Micro Devices, Inc., commonly abbreviated as AMD, is an American multinational semiconductor company based in Santa Clara, California, that develops computer processors and related technologies for business and consumer markets. The company was founded in 1969 by Jerry Sanders and a group of other technology professionals. AMD's early products were primarily memory chips and other components for computers. The company later expanded into the microprocessor market, competing with Intel, its main rival in the industry.
Balancing selectionBalancing selection refers to a number of selective processes by which multiple alleles (different versions of a gene) are actively maintained in the gene pool of a population at frequencies larger than expected from genetic drift alone. Balancing selection is rare compared to purifying selection. It can occur by various mechanisms, in particular, when the heterozygotes for the alleles under consideration have a higher fitness than the homozygote. In this way genetic polymorphism is conserved.
International Classification of DiseasesThe International Classification of Diseases (ICD) is a globally used diagnostic tool for epidemiology, health management and clinical purposes. The ICD is maintained by the World Health Organization (WHO), which is the directing and coordinating authority for health within the United Nations System. The ICD is originally designed as a health care classification system, providing a system of diagnostic codes for classifying diseases, including nuanced classifications of a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease.
Amyloid plaquesAmyloid plaques (also known as neuritic plaques, amyloid beta plaques or senile plaques) are extracellular deposits of the amyloid beta (Aβ) protein mainly in the grey matter of the brain. Degenerative neuronal elements and an abundance of microglia and astrocytes can be associated with amyloid plaques. Some plaques occur in the brain as a result of aging, but large numbers of plaques and neurofibrillary tangles are characteristic features of Alzheimer's disease. Abnormal neurites in amyloid plaques are tortuous, often swollen axons and dendrites.
Medical classificationA medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which are used to track diseases and other health conditions, inclusive of chronic diseases such as diabetes mellitus and heart disease, and infectious diseases such as norovirus, the flu, and athlete's foot. Procedure classifications list procedure code, which are used to capture interventional data.
Visual fieldThe visual field is "that portion of space in which objects are visible at the same moment during steady fixation of the gaze in one direction"; in ophthalmology and neurology the emphasis is on the structure inside the visual field and it is then considered “the field of functional capacity obtained and recorded by means of perimetry”. However, the visual field can also be understood as a predominantly perceptual concept and its definition then becomes that of the "spatial array of visual sensations available to observation in introspectionist psychological experiments" (for example in van Doorn et al.
