Gyrate Atrophy of the Choroid and Retina—Eye Diseases

Some eye problems are minor and don’t last long. But some can lead to a permanent loss of vision.

Common eye problems include

• Refractive errors
• Cataracts – clouded lenses
• Optic nerve disorders, including glaucoma
• Retinal disorders – problems with the nerve layer at the back of the eye
• Macular degeneration – a disease that destroys sharp, central vision
• Diabetic eye problems
• Conjunctivitis – an infection also known as pinkeye

Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation.

NIH: National Eye Institute

• Anisocoria (Medical Encyclopedia)
• Choroidal dystrophies (Medical Encyclopedia)
• Coloboma of the iris (Medical Encyclopedia)
• Episcleritis (Medical Encyclopedia)
• Eye and orbit ultrasound (Medical Encyclopedia)
• Eye burning – itching and discharge (Medical Encyclopedia)
• Eye pain (Medical Encyclopedia)
• Eye redness (Medical Encyclopedia)
• Fluorescein angiography (Medical Encyclopedia)
• Fluorescein eye stain (Medical Encyclopedia)
• Heterochromia (Medical Encyclopedia)
• Ophthalmoscopy (Medical Encyclopedia)
• Orbit CT scan (Medical Encyclopedia)
• Orbital pseudotumor (Medical Encyclopedia)
• Photophobia (Medical Encyclopedia)
• Pinguecula (Medical Encyclopedia)
• Pterygium (Medical Encyclopedia)
• Pupil – white spots (Medical Encyclopedia)
• Scleritis (Medical Encyclopedia)
• Slit-lamp exam (Medical Encyclopedia)
• Standard ophthalmic exam (Medical Encyclopedia)
• Subconjunctival hemorrhage (Medical Encyclopedia)
• Uveitis (Medical Encyclopedia)

Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period.Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses.In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.