Frameshift mutationA frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.
Contrast (vision)Contrast is the contradiction in luminance or colour that makes an object (or its representation in an image or display) distinguishable. In visual perception of the real world, contrast is determined by the difference in the colour and brightness of the object and other objects within the same field of view. The human visual system is more sensitive to contrast than absolute luminance; we can perceive the world similarly regardless of the huge changes in illumination over the day or from place to place.
Retinal pigment epitheliumThe pigmented layer of retina or retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells. The RPE was known in the 18th and 19th centuries as the pigmentum nigrum, referring to the observation that the RPE is dark (black in many animals, brown in humans); and as the tapetum nigrum, referring to the observation that in animals with a tapetum lucidum, in the region of the tapetum lucidum the RPE is not pigmented.
Usher syndromeUsher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a major cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness.
OmmatidiumThe compound eyes of arthropods like insects, crustaceans and millipedes are composed of units called ommatidia (singular: ommatidium). An ommatidium contains a cluster of photoreceptor cells surrounded by support cells and pigment cells. The outer part of the ommatidium is overlaid with a transparent cornea. Each ommatidium is innervated by one axon bundle (usually consisting of 6–9 axons, depending on the number of rhabdomeres) and provides the brain with one picture element.
Nonsense mutationIn genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in leading to a truncated, incomplete, and nonfunctional protein product. Nonsense mutation is not always harmful, the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected.
Cerebral cortexThe cerebral cortex, also known as the cerebral mantle, is the outer layer of neural tissue of the cerebrum of the brain in humans and other mammals. The cerebral cortex mostly consists of the six-layered neocortex, with just 10% consisting of allocortex. It is separated into two cortices, by the longitudinal fissure that divides the cerebrum into the left and right cerebral hemispheres. The two hemispheres are joined beneath the cortex by the corpus callosum. The cerebral cortex is the largest site of neural integration in the central nervous system.
Visual perceptionVisual perception is the ability to interpret the surrounding environment through photopic vision (daytime vision), color vision, scotopic vision (night vision), and mesopic vision (twilight vision), using light in the visible spectrum reflected by objects in the environment. This is different from visual acuity, which refers to how clearly a person sees (for example "20/20 vision"). A person can have problems with visual perceptual processing even if they have 20/20 vision.
StrabismusStrabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is pointed at an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in double vision. Strabismus can occur due to muscle dysfunction, farsightedness, problems in the brain, trauma or infections.
EsotropiaEsotropia is a form of strabismus in which one or both eyes turns inward. The condition can be constantly present, or occur intermittently, and can give the affected individual a "cross-eyed" appearance. It is the opposite of exotropia and usually involves more severe axis deviation than esophoria. Esotropia is sometimes erroneously called "lazy eye", which describes the condition of amblyopia; a reduction in vision of one or both eyes that is not the result of any pathology of the eye and cannot be resolved by the use of corrective lenses.
