Generally, it is defined as the study of inheritance; specifically, it is the determination of genes linked with causing retinal degenerative diseases.
Genetics (GE) is one of the Foundation's seven research priority areas. Scientists and clinicians are looking for new genes linked to retinal degenerative diseases. It is thought that over half of retinal degenerative disease-causing genes have already been identified.
Geographic atrophy may be considered the end stage of dry age-related macular degeneration (AMD), causing severe vision loss. Over time, sometimes over many years, the atrophy of the RPE cells (due to drusen deposits in the retina) gets more prevalent with all of the macula being affected.
Geographic atrophy looks like a circle or spot of degeneration, right in the center. Also see Age-related Macular Degeneration.
Gyrate atrophy is an autosomal recessively inherited disorder, which is due to a lack of the protein enzyme ornithine keto-acid aminotransferase (OAT), resulting in an increased blood serum level of ornithine (hyperornithinemia).
The symptoms are progressive "night blindness" and peripheral vision loss.
The part of a photoreceptor cell that is closest to the front of the eye and is thought to channel light to the outer segment, where the visual cycle takes place.
The colored "ring" that regulates the amount of light that's admitted into the eye.
An iris is the colored "ring" surrounding the pupil that regulates the amount of light that is admitted into the eye. If the eye is like a camera, consider the iris to be like an aperture.
A Briard dog born blind with a mutation in the RPE65 gene that caused a dog-form of the human retinal degenerative disease called Leber congenital amaurosis (LCA). Lancelot has been treated with gene therapy and can now see.
As reported in the scientific journal, Nature Genetics, in 2001, researchers injected into one of Lancelot's eyes a "good" copy of the RPE65 gene that corrected his vision in that one eye. Since Lancelot's treatment, over 50 dogs have been treated in a similar manner and can now see. Three human clinical trials based upon this research began in 2007.
Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Some patients with LCA also experience central nervous system abnormalities.
The transparent part of the eye that focuses light onto the retina, so that we can see.
The lens is an oval-shaped, clear (transparent) part of the eye behind the cornea and iris that focuses incoming light onto the retina. If the eye is like a camera, consider the eye lens to be like a camera lens.
A locus is the chromosomal "neighborhood" where a gene (a "house") resides; specifically, a potential disease-causing gene.
A locus is a location in one part of a chromosome where a particular gene(s) might reside, like a "house" (gene) might reside in a "neighborhood" (locus). Scientists who are looking for genes associated with retinal degenerative diseases call it a locus until they definitively prove that one (or more) gene(s) in this region cause(s) that disease.
A blood vessel growth-blocking drug approved by the FDA in June 2006 for treatment of wet AMD.
Nutrient pigments chemically related to beta-carotene that are abundant in green leafy vegetables and yellow and orange-colored fruits and vegetables. These are the only two known food pigments that collect in the macula, where they are thought to protect it from light damage (blue light).
An anti-VEGF drug approved by the FDA in 2004 for treatment of wet AMD.
The center of the retina that has a concentration of cone photoreceptor cells and is responsible for fine detail, day and color vision.
The macula is the central portion of the retina. The macula contains a dense concentration of cone photoreceptor cells that help us to see fine visual detail (see Visual Acuity), daylight and color vision. Only primates (including humans and monkeys) have a macula in their retina.
The processed gene "messenger" (derived from DNA) that is the template for making proteins. Also, see RNA.
Messenger RNA (mRNA) is the gene messenger that results from the transfer of genetic information from DNA into RNA. Often the orginal mRNA requires processing (i.e., cutting and "re-glueing") into a shorter mRNA template for production of the final, proper protein.
A series of pathways the body uses, both to break down nutrients into simple energy packets and to create building blocks that then build-up cell components and help the body to function.
A change or "spelling mistake" in the DNA of a gene that can cause a disease (but sometimes does not cause disease).
Acronym for the National Eye Institute, a part of the research-funding government organization, the United States (US) National Institutes of Health.
Delivering a protein or drug to the eye that prevents the photoreceptors and/or RPE cells from dying, thus saving vision.
The specialized compartment within a cell that houses the DNA.
The nucleus is the specialized compartment within a cell that houses the DNA, packaged as chromosomes. The nucleus is also the location where RNA (messenger RNA) is made from genes and transported out of the nucleus to serve as a template for protein production.
A clinically-tested nutritional supplement or lifestyle change that has been proven to slow or stop the loss of vision in a retinal degenerative disease.