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Gene Therapy Of The Human Retina
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness. In 2008, three independent research groups reported that patients with the rare genetic retinal disease Leber's congenital amaurosis had been successfully treated using gene therapy with adeno-associated virus (AAV). In all three studies, an AAV vector was used to deliver a functional copy of the RPE65 gene, which restored vision in children suffering from LCA. These results were widely seen as a success in the gene therapy field, and have generated excitement and momentum for AAV-mediated applications in retinal disease. In retinal gene therapy, the most widely used vectors for ocular gene delivery are based on adeno-associated virus. The great advantage in using adeno-associated virus for the gene therapy is that it poses minimal immune responses and mediates long-term transgene expression in a variety of retinal cell types. For example, tight junctions that form the blood-r ...
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Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ...
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Intravitreal Administration
Intravitreal administration is a route of administration of a drug, or other substance, in which the substance is delivered into the vitreous humor of the eye. "Intravitreal" literally means "inside an eye". Intravitreal injections were first introduced in 1911 when Ohm gave an injection of air into the vitreous humor to repair a detached retina. In the mid-1940s, intravitreal injections became a standard way to administer drugs to treat endophthalmitis and cytomegalovirus retinitis. Epidemiology Intravitreal injections were proposed over a century ago however the number performed remained relatively low until the mid 2000s. Until 2001, intravitreal injections were mainly used to treat end-ophthalmitis. The number of intravitreal injections stayed fairly constant, around 4,500 injections per year in the US. The number of injections tripled to 15,000 in 2002 when triamcinolone injections were first used to treat diabetic macular oedema. This use continued to drive an increase to ...
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Inner Limiting Membrane
The internal limiting membrane, or inner limiting membrane, is the boundary between the retina and the vitreous body, formed by astrocytes and the end feet of Müller cells Müller may refer to: Companies * Müller (company), a German multinational dairy company ** Müller Milk & Ingredients, a UK subsidiary of the German company * Müller (store), a German retail chain * GMD Müller, a Swiss aerial lift manufact .... It is separated from the vitreous body by a basal lamina. External links * Human eye anatomy {{eye-stub ...
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Tropism
In biology, a tropism is a phenomenon indicating the growth or turning movement of an organism, usually a plant, in response to an environmental stimulus (physiology), stimulus. In tropisms, this response is dependent on the direction of the stimulus (as opposed to nastic movements, which are non-directional responses). Tropisms are usually named for the stimulus involved; for example, a phototropism is a movement to the light source, and an anemotropism is the response and adaptation of plants to the wind. Tropisms occur in three sequential steps. First, there is a sensation to a stimulus. Next, signal transduction occurs. And finally, the directional growth response occurs. Tropisms can be regarded by Ethology, ethologists as ''taxis'' (directional response) or ''kinesis (biology), kinesis'' (non-directional response). The Cholodny–Went model, proposed in 1927, is an early model describing tropism in emerging shoots of monocotyledons, including the tendencies for the st ...
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Vitreous Humor
The vitreous body (''vitreous'' meaning "glass-like"; , ) is the clear gel that fills the space between the lens and the retina of the eyeball (the vitreous chamber) in humans and other vertebrates. It is often referred to as the vitreous humor (also spelled humour), from Latin meaning liquid, or simply "the vitreous". Vitreous fluid or "liquid vitreous" is the liquid component of the vitreous gel, found after a vitreous detachment. It is not to be confused with the aqueous humor, the other fluid in the eye that is found between the cornea and lens. Structure The vitreous humor is a transparent, colorless, gelatinous mass that fills the space in the eye between the lens and the retina. It is surrounded by a layer of collagen called the vitreous membrane (or hyaloid membrane or vitreous cortex) separating it from the rest of the eye. It makes up four-fifths of the volume of the eyeball. The vitreous humour is fluid-like near the centre, and gel-like near the edges. The vitreou ...
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Retinal Pigment Epithelium
The pigmented layer of retina or retinal pigment epithelium (RPE) is the pigment A pigment is a powder used to add or alter color or change visual appearance. Pigments are completely or nearly solubility, insoluble and reactivity (chemistry), chemically unreactive in water or another medium; in contrast, dyes are colored sub ...ed 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. History 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. Anatomy The RPE is composed of a single layer of hexagonal cells that are densely packed with pigment granules. When viewed from the outer surface, ...
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Retinitis Pigmentosa
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause 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. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis. When these rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is through eye examination of the retina ...
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Photoreceptor Cell
A 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: rod cell, rods, cone cell, cones, and intrinsically photosensitive retinal ganglion cells. The two classic photoreceptor cells are rods and cones, each contributing information used by the visual system to form an image of the environment, Visual perception, sight. Rods primarily mediate scotopic vision (dim conditions) whereas cones primarily mediate photopic vision (bright conditions), but the processes in each that supports phototransduction is similar. The intrinsically photosen ...
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Retinal Ganglion Cells
A retinal ganglion cell (RGC) is a type of neuron located near the inner surface (the ganglion cell layer) of the retina of the eye. It receives visual information from photoreceptors via two intermediate neuron types: bipolar cells and retina amacrine cells. Retina amacrine cells, particularly narrow field cells, are important for creating functional subunits within the ganglion cell layer and making it so that ganglion cells can observe a small dot moving a small distance. Retinal ganglion cells collectively transmit image-forming and non-image forming visual information from the retina in the form of action potential to several regions in the thalamus, hypothalamus, and mesencephalon, or midbrain. Retinal ganglion cells vary significantly in terms of their size, connections, and responses to visual stimulation but they all share the defining property of having a long axon that extends into the brain. These axons form the optic nerve, optic chiasm, and optic tract. A small p ...
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Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ...
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Macular Telangiectasia
Macular telangiectasia is a condition of the retina, the light-sensing tissue at the back of the eye that causes gradual deterioration of central vision, interfering with tasks such as reading and driving. Type 1, a very rare disease involving microaneurysms in the retina, typically affects a single eye in male patients, and it may be associated with Coats' disease. Type 2 (referred to as MacTel) is the most common macular telangiectasia. It is categorized as "macular perifoveal telangiectasia", a neurodegenerative metabolic disorder, correlated with diabetes and coronary artery disease. It generally affects both eyes and usually affects both sexes equally. Type 3 is an extremely rare, poorly understood neurological disease of the retina. It is characterized by occlusion and telangiectasia of the capillaries of the fovea in one or both eyes, as well as some exudation''.'' Early research Although J. D. Gass originally identified four types of idiopathic juxtafove ...
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Revakinagene Taroretcel
Revakinagene taroretcel, sold under the brand name Encelto, is an allogeneic encapsulated cell-based gene therapy used for the treatment of macular telangiectasia type 2. Revakinagene taroretcel is administered into the recipient's eye during a single surgical procedure. Revakinagene taroretcel works by expressing recombinant human ciliary neurotrophic factor, which is a factor that may promote the survival and maintenance of the macular photoreceptors. Revakinagene taroretcel was approved for medical use in the United States in March 2025. Medical uses Revakinagene taroretcel is indicated for the treatment of adults with idiopathic macular telangiectasia type 2. Macular telangiectasia type 2 is a rare progressive disease of the macula (portion of the eye that process sharp central vision), leading to degeneration of the photoreceptors which are specialized light-detecting cells in the back of the eye. Society and culture Legal status Revakinagene taroretcel was app ...
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