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Dominant

see Autosomal Dominant Disease

Drusen

Yellow-white retinal deposits thought to include proteins, pigments and fats. Dry AMD or juvenile macular degeneration may occur when drusen become too large or numerous and collect around the macula.

Embryonic Stem Cell

see Stem Cell

FDA

Acronym for the Food and Drug Administration, a branch of the United States (US) Department of Health and Human Services.

FFB

Acronym for Foundation Fighting Blindness.

Free Radical

A highly reactive chemical or nutritional breakdown product that can cause damage to a cell or tissue.

GA

see Gyrate Atrophy or Geographic Atrophy and Age-related Macular Degeneration

GE

see Genetics

Gene

A unit of inheritance, encoded by DNA. If there's a mutation in a gene, this may cause a disease.

Gene Mapping

Identifying a region of a chromosome that is responsible for causing a disease (or causing some known function), but not yet identifying the exact gene.

Gene Therapy (GT)

A therapeutic process that replaces or turns off the "bad" or mutated disease-causing gene and restores some level of normal protein function.

Genetic Testing (also called Genotyping)

Generally, is defined as determining the genetic make-up of an individual; specifically, is looking for the gene(s) that cause an individual's retinal degenerative disease.

Genetics (GE)

Generally, it is defined as the study of inheritance; specifically, it is the determination of genes linked with causing retinal degenerative diseases.

Geographic Atrophy (GA)

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.

GT

see  GeneTherapy

Gyrate Atrophy (GA)

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).

Inner Segment

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.

Iris

The colored "ring" that regulates the amount of light that's admitted into the eye.

Juvenile Macular Degeneration

see Best Disease; Stargardt Disease

Lancelot

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.

 
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