Cone dystrophyA cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to "counting fingers" vision.
Rod cellRod cells are photoreceptor cells in the retina of the eye that can function in lower light better than the other type of visual photoreceptor, cone cells. Rods are usually found concentrated at the outer edges of the retina and are used in peripheral vision. On average, there are approximately 92 million rod cells (vs ~6 million cones) in the human retina. Rod cells are more sensitive than cone cells and are almost entirely responsible for night vision.
Retinitis pigmentosaRetinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood. Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes.
Cone cellCone cells, or cones, are photoreceptor cells in the retinas of vertebrates' eyes, including the human eye. They respond differently to light of different wavelengths, and the combination of their responses is responsible for color vision. Cones function best in relatively bright light, called the photopic region, as opposed to rod cells, which work better in dim light, or the scotopic region. Cone cells are densely packed in the fovea centralis, a 0.
Photoreceptor cellA photoreceptor cell is a specialized type of neuroepithelial cell found in the retina that is capable of visual phototransduction. The great biological importance of photoreceptors is that they convert light (visible electromagnetic radiation) into signals that can stimulate biological processes. To be more specific, photoreceptor proteins in the cell absorb photons, triggering a change in the cell's membrane potential. There are currently three known types of photoreceptor cells in mammalian eyes: rods, cones, and intrinsically photosensitive retinal ganglion cells.
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.
Scotopic visionIn the study of human visual perception, scotopic vision (or scotopia) is the vision of the eye under low-light conditions. The term comes from Greek skotos, meaning "darkness", and -opia, meaning "a condition of sight". In the human eye, cone cells are nonfunctional in low visible light. Scotopic vision is produced exclusively through rod cells, which are most sensitive to wavelengths of around 498 nm (blue-green) and are insensitive to wavelengths longer than about 640 nm (red-orange).
MonochromacyMonochromacy (from Greek mono, meaning "one" and chromo, meaning "color") is the ability of organisms or machines to perceive only light intensity without respect to spectral composition. Such organisms and machines are colorblind in most the literal sense of the word. Organisms with monochromacy are called monochromats. Many mammals, such as cetaceans, the owl monkey and the Australian sea lion (pictured at right) are monochromats.
MetamorphopsiaMetamorphopsia (from μεταμορφοψία, metamorphopsia) is a type of distorted vision in which a grid of straight lines appears wavy and parts of the grid may appear blank. People can first notice they suffer with the condition when looking at mini-blinds in their home. For example, straight lines might be wavy or bendy. Things may appear closer or further than they are. Initially characterized in the 1800s, metamorphopsia was described as one of the primary and most notable indications of myopic and senile maculopathies.
Diabetic retinopathyDiabetic retinopathy (also known as diabetic eye disease), is a medical condition in which damage occurs to the retina due to diabetes mellitus. It is a leading cause of blindness in developed countries. Diabetic retinopathy affects up to 80 percent of those who have had both type 1 and type 2 diabetes for 20 years or more. In at least 90% of new cases, progression to more aggressive forms of sight threatening retinopathy and maculopathy could be reduced with proper treatment and monitoring of the eyes.
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.
Amsler gridThe Amsler grid, used since 1945, is a grid of horizontal and vertical lines used to monitor a person's central visual field. The grid was developed by Marc Amsler, a Swiss ophthalmologist. It is a diagnostic tool that aids in the detection of visual disturbances caused by changes in the retina, particularly the macula (e.g. macular degeneration, Epiretinal membrane), as well as the optic nerve and the visual pathway to the brain. Amsler grid usually help detecting defects in central 20 degrees of the visual field.
Dominance (genetics)In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (de novo) or inherited.
InbreedingInbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely. Inbreeding results in homozygosity, which can increase the chances of offspring being affected by recessive traits.
Sodium channelSodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily of cation channels. They are classified into 2 types: In excitable cells such as neurons, myocytes, and certain types of glia, sodium channels are responsible for the rising phase of action potentials. These channels go through three different states called resting, active and inactive states.
