Achromatopsia is a type of cone dystrophy where there are normally problems only with vision from cone photoreceptors, the ones responsible for color and day vision and visual acuity.
The growth of new blood vessels. When growing in places they shouldn't, they can cause disease, such as wet age-related macular degeneration (AMD). Angiogenesis refers to the growth of new blood vessels. When uncontrolled, angiogenesis can cause destruction of the retina due to leakage of blood.
A nutritional supplement (like vitamins C or E), drug, or naturally occurring product that protects cells from damage induced by light, stress or metabolic processes (called oxidation). Antioxidants are also prevalent in foods, such as vegetables and fruits.
A controlled process for cell death, triggered by a signal or biochemical reaction, in response to an accumulation of cellular damage.
AREDS was a clinical study sponsored by the Federal government's National Eye Institute that determined a specific nutritional supplementation regimen for slowing progress of vision loss in individuals with AMD. The AREDS supplementation is: Antioxidants (500 mg Vitamin C, 400 IU Vitamin E, 15 mg Beta-carotene) and Minerals (80 mg Zinc Oxide, 2mg Copper).
Disease caused when an individual inherits a disease-causing mutation in one copy of a gene pair.
Disease caused when an individual inherits a mutation(s) that may not cause disease unless both copies of a gene pair are mutated.
Any chromosome within the 22 pairs of non-sex (not X or Y) chromosomes inherited by every individual from their biological parents.
An autosome is a chromosome (or DNA package) that does not play a primary role in determining a person's sex (i.e., not an X or Y chromosome). Autosomal recessive and autosomal dominant diseases are caused by mutations in genes that reside on one of the 22 paired autosomes.
Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with BBS have a retinal degeneration similar to retinitis pigmentosa (RP).
Best disease is an inherited form of juvenile macular degeneration characterized by a loss of central vision.
A nutritional pigment (and antioxidant) that can be used in the visual cycle of the eye. It is responsible for the orange color of carrots and other fruits and vegetables.
The blood-retina barrier that separates the retina from the rest of the body, that is often broken in individuals with wet AMD.
The Bruch's membrane is the blood-retina barrier that separates the RPE cells of the retina from the choroid. This membrane is structurally similar to the blood-brain barrier, because the retina is an extension of the brain. A rupture of this barrier can cause diseases, like AMD, where the choroid blood vessels grow abnormally into the retina and cause damage, ultimately affecting vision.
Tetraterpenoid organic pigments that are naturally occurring in the chloroplasts and chromoplasts of plants and some other photosynthetic organisms like algae, some bacteria, and some types of fungus.
Carotenoids can be synthesized fats and other basic organic metabolic building blocks by all these organisms.
The smallest building-block of a living being that is capable of functioning on its own.
A cell is the smallest biological unit of specialized function capable of self-replication. A cell consists of an outer membrane (like a porous plastic bag), which encases the fluid of the cell, and the nucleus (a specialized compartment that contains the DNA and directs the production of proteins). Conversion of many cells (of either the same or different functions) at the same spot in the body can form an organ with specialized purposes, like the retina, liver or brain.
Using cell transplants or stem cells to treat a retinal degenerative disease.
Cell-Based Therapy (CBT) is one of the Foundation's seven research priority areas. Scientists and clinicians are testing treatments for retinal degenerative diseases with stem cell and retinal transplants. This therapy has the potential to treat all retinal degenerative diseases, even in those people who have completely lost all photoreceptor and/or RPE cells.
Determining how and why disease begins, and ultimately using this information to design an effective, targeted treatment.
Cellular and Molecular Mechanisms of Disease (CMM) is one of the Foundation's seven research priority areas. Scientists and clinicians are determining how mutations in each identified gene cause retinal degenerative disease and specifically what goes wrong in the cells of the eye as a result of this mutation. The resulting knowledge is being used to create effective, directed treatments.
The "central command system" of the body, it includes the brain, spine and retina.
The central nervous system (CNS) is the "central command system" of the body, and includes the brain, spine and retina. Every nerve outside of the blood-brain and blood-retina barriers is considered part of the peripheral nervous system. Since the retina is part of the CNS, it is possible that treatments for other neurodegenerative diseases of the CNS (like Lou Gehrig's disease or Alzheimer's disease) could work for retinal degenerative diseases.
Choroideremia is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina.
A "package" of DNA that holds the genetic code to life. In humans, each non-sex cell has 23 pairs of chromosomes.
Cilia are very small, hair-like structures that are found in or on many specialized cell types (for example, photoreceptors and ear, kidney, and lung cells). A mutation in a gene whose protein helps maintain the structure of these "hairs" can cause diseases with symptoms in one or more affected body systems, creating a syndrome. For example, some Usher syndromes involve vision and hearing problems, caused by altered cilia proteins found in both photoreceptors and ear cochlear cells.