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Congenital Blindness
Congenital blindness refers to a group of diseases and conditions occurring in childhood or early adolescence of below 16 years old, which, if left untreated, result in blindness or severe visual impairment that are likely to be permanent blindness later in life. Congenital blindness is a hereditary disease and can be cured by gene therapy. Visual loss in children or infant can occur either at the stage of prenatal (during the time of conception or intrauterine period) or postnatal stage (during birth). A variety of causes can promote congenital blindness but the most concern and highest cause of it is a genetic mutation. In general, 60% of congenital blindness cases are contributed from prenatal stage and 40% are contributed from inherited disease. However, most of the congenital blindness cases show that it can be avoidable or preventable with early treatment. Causes Prenatal stage *Premature Birth *Refractive error *Congenital cataract *Retinopathy of prematurity (ROP) *Infect ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schematic Diagram Of The Human Eye
A schematic, or schematic diagram, is a designed representation of the elements of a system using abstract, graphic symbols rather than realistic pictures. A schematic usually omits all details that are not relevant to the key information the schematic is intended to convey, and may include oversimplified elements in order to make this essential meaning easier to grasp, as well as additional organization of the information. For example, a subway map intended for passengers may represent a subway station with a dot. The dot is not intended to resemble the actual station at all but aims to give the viewer information without unnecessary visual clutter. A schematic diagram of a chemical process uses symbols in place of detailed representations of the vessels, piping, valves, pumps, and other equipment that compose the system, thus emphasizing the functions of the individual elements and the interconnections among them and suppresses their physical details. In an electronic circuit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Therapy
Gene therapy is a medical field which focuses on the genetic modification of cells to produce a therapeutic effect or the treatment of disease by repairing or reconstructing defective genetic material. The first attempt at modifying human DNA was performed in 1980, by Martin Cline, but the first successful nuclear gene transfer in humans, approved by the National Institutes of Health, was performed in May 1989. The first therapeutic use of gene transfer as well as the first direct insertion of human DNA into the nuclear genome was performed by French Anderson in a trial starting in September 1990. It is thought to be able to cure many genetic disorders or treat them over time. Between 1989 and December 2018, over 2,900 clinical trials were conducted, with more than half of them in phase I.Gene Therapy Cli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NEI Animation- Retinopathy Of Prematurity (ROP)
Nei or NEI may refer to: *Nei, Iran, a village in Ardabil Province, Iran *Nei, a character in the '' Phantasy Star II'' roleplaying game * Nutrition and Education International * Nuclear Energy Institute, American nuclear industry lobbying group * National Eye Institute, one of the US Institutes of Health *Netherlands East-Indies, also known as the Dutch East Indies *Northern Engineering Industries, a defunct British engineering firm * Noise-equivalent irradiance, in astronomy People with the name Nei *Iivo Nei (born 1931), Estonian chess champion * Masatoshi Nei (born 1931), Japanese population geneticist *Nei Kato Japanese engineer *Nei (footballer born 1980), born ''Claudinei Alexandre Aparecido'', Brazilian football striker *Nei (footballer born 1985), born ''Claudinei Cardoso Félix Silva'', Brazilian football right-back *Nei (footballer, born 1991), born ''Jozinei João Machado Rodriguez'', Brazilian football attacking midfielder See also *Nai (other) *Neigh (disa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinopathy Of Prematurity
Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a disease of the eye affecting prematurely born babies generally having received neonatal intensive care, in which oxygen therapy is used due to the premature development of their lungs. It is thought to be caused by disorganized growth of retinal blood vessels which may result in scarring and retinal detachment. ROP can be mild and may resolve spontaneously, but it may lead to blindness in serious cases. Thus, all preterm babies are at risk for ROP, and very low birth-weight is an additional risk factor. Both oxygen toxicity and relative hypoxia can contribute to the development of ROP. Causes By the fourth month of pregnancy, the fetal retina has begun to develop vascularization. Such formation of blood vessels appears to be very sensitive to the amount of oxygen supplied, either naturally or artificially. In rare cases ROP has been found in some patients with a mutation in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Conjunctivitis
Neonatal conjunctivitis is a form of conjunctivitis (inflammation of the outer eye) which affects newborn babies following birth. It is typically due to neonatal bacterial infection, although can also be non-infectious (e.g. chemical exposure). Infectious neonatal conjunctivitis is typically contracted during vaginal delivery from exposure to bacteria from the birth canal, most commonly ''Neisseria gonorrhoeae'' or ''Chlamydia trachomatis''. Antibiotic ointment is typically applied to the newborn's eyes within 1 hour of birth as prevention for gonococcal ophthalmia. This practice is recommended for all newborns and most hospitals in the United States are required by state law to apply eye drops or ointment soon after birth to prevent the disease. If left untreated, neonatal conjunctivitis can cause blindness. Signs and symptoms Neonatal conjunctivitis by definition presents during the first month of life. Signs and symptoms include: * Pain and tenderness in the eyeball * Conjunc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein RPE65 PDB 3FSN
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid resi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RPE65
Retinal pigment epithelium-specific 65 kDa protein, also known as retinoid isomerohydrolase, is an enzyme of the vertebrate visual cycle that is encoded in humans by the ''RPE65'' gene. RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans- retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes. Function RPE65 is a critical enzyme in the vertebrate visual cycle found in the retinal pigmented epithelium. It is also found in rods and cones. The photoisomerization of 11-cis-retinal to all-trans-retinal initiates the phototransduction pathway through which the brain detects light. All-trans-retinol is not photoactive and therefore must be reconverted to 11-cis-retinal before it can recombine with opsin to form an acti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phototransduction
Visual phototransduction is the transduction (physiology), sensory transduction process of the visual system by which light is detected to yield Action potential, nerve impulses in the rod cells and cone cells in the retina of the eye in humans and other vertebrates. It relies on the visual cycle, a sequence of biochemical reactions in which a molecule of retinal bound to opsin undergoes photoisomerization, initiates a cascade that signals detection of the photon, and is indirectly restored to its photosensitive isomer for reuse. Phototransduction in some invertebrates such as Drosophila melanogaster#Vision, fruit flies relies on similar processes. Photoreceptors The photoreceptor cells involved in vertebrate vision are the Rod cell, rods, the cone cell, cones, and the photosensitive ganglion cells (ipRGCs). These cells contain a chromophore (11-cis retinal, 11-''cis''-retinal, the aldehyde of vitamin a, vitamin A1 and light-absorbing portion) that is bound to a cell membrane prote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
In Vivo
Studies that are ''in vivo'' (Latin for "within the living"; often not italicized in English) are those in which the effects of various biological entities are tested on whole, living organisms or cells, usually animals, including humans, and plants, as opposed to a tissue extract or dead organism. This is not to be confused with experiments done ''in vitro'' ("within the glass"), i.e., in a laboratory environment using test tubes, Petri dishes, etc. Examples of investigations ''in vivo'' include: the pathogenesis of disease by comparing the effects of bacterial infection with the effects of purified bacterial toxins; the development of non-antibiotics, antiviral drugs, and new drugs generally; and new surgical procedures. Consequently, animal testing and clinical trials are major elements of ''in vivo'' research. ''In vivo'' testing is often employed over ''in vitro'' because it is better suited for observing the overall effects of an experiment on a living subject. In dr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adeno-associated Virus
Adeno-associated viruses (AAV) are small viruses that infect humans and some other primate species. They belong to the genus ''Dependoparvovirus'', which in turn belongs to the family ''Parvoviridae''. They are small (approximately 26 nm in diameter) replication-defective, nonenveloped viruses and have linear single-stranded DNA (ssDNA) genome of approximately 4.8 kilobases (kb). AAV are not currently known to cause disease. The viruses cause a very mild immune response. Several additional features make AAV an attractive candidate for creating viral vectors for gene therapy, and for the creation of isogenic human disease models. Gene therapy vectors using AAV can infect both dividing and quiescent cells and persist in an extrachromosomal state without integrating into the genome of the host cell. In the native virus, however, integration of virally carried genes into the host genome does occur. Integration can be important for certain applications, but can also have unwan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Voretigene Neparvovec
Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication for the treatment of Leber congenital amaurosis. Leber's congenital amaurosis, or biallelic RPE65-mediated inherited retinal disease, is an inherited disorder causing progressive blindness. Voretigene is the first treatment available for this condition. The gene therapy is not a cure for the condition, but substantially improves vision in those treated. It is given as a subretinal injection. Voretigene neparvovec was approved for medical use in the United States in December 2017, Australia in August 2020 and in Canada, in October 2020. It is the first ''in vivo'' gene therapy approved by the US Food and Drug Administration (FDA). Medical uses Voretigene neparvovec is indicated for the treatment of people with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells. Chemistry and production Voretigene nepar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
