Gyrate Atrophy, a rare genetic disease that affects vision, is spelled /dʒaɪˈreɪt əˈtrəʊfi/. The word "gyrate" comes from the Latin word "gyrare," which means "to turn around," and is pronounced /dʒaɪˈreɪt/. "Atrophy" means the wasting away or shrinking of cells or tissues and is pronounced /ˈætrəfi/. When combined, the word is spelled as "gyrate atrophy." The disease causes a loss of peripheral vision, night blindness, and can lead to total blindness.
Gyrate atrophy is a rare genetic disorder that affects the visual system, particularly the retina, causing progressive degeneration and loss of vision. It is characterized by the progressive shrinking and damage of the choroid, which is the pigmented layer of blood vessels and connective tissue underneath the retina.
Symptoms of gyrate atrophy usually emerge in childhood or adolescence and worsen over time. These symptoms include night blindness, decreased peripheral vision, and a reduced ability to distinguish colors. As the disease progresses, individuals may experience tunnel vision, leading to severe visual impairment or blindness in later stages.
The term "gyrate" in gyrate atrophy refers to the characteristic spiral pattern of the chorioretinal degeneration observed in affected individuals. The atrophy refers to the diminishing and wasting of tissue in the eye.
Gyrate atrophy is caused by mutations in the ornithine aminotransferase (OAT) gene, which is responsible for producing an enzyme involved in the breakdown of the amino acid ornithine. Deficiencies in this enzyme lead to an accumulation of ornithine, which is toxic to the retina, triggering the degenerative changes seen in gyrate atrophy.
Currently, there is no known cure for gyrate atrophy. Treatment options are limited and focus primarily on managing the symptoms and slowing down the disease progression. This may involve dietary restrictions, such as reducing the intake of arginine (which can increase ornithine levels) and the use of supplements. Regular eye exams are essential for monitoring the condition and addressing any complications that may arise.
The word "gyrate atrophy" is a medical term used to describe a rare genetic disorder that affects the retina of the eye. Let's break down the etymology of each component:
1. Gyrate: The term "gyrate" is derived from the Latin word "gyratus", which means "to turn or revolve". It refers to the characteristic circular or spiral-shaped patterns of chorioretinal atrophy that appear in the retina of individuals with this condition.
2. Atrophy: The word "atrophy" comes from the Greek word "atrophia", which means "lack of nourishment" or "wasting away". Atrophy refers to the degeneration or shrinking of an organ or tissue due to cell loss or decreased function. In the case of gyrate atrophy, it implies the progressive deterioration of the retina.