Rare Retinal Diseases


Birdshot Retinochoroidopathy (BR)

Birdshot retinochoroidopathy (BR) is a rare, inflammatory condition of the retina and choroid, the layer of blood vessels under the retina. BR usually occurs in Caucasian women over the age of forty.

The cause of BR is unknown. It usually affects both eyes. Symptoms are poor vision, night blindness, and disturbance of color vision. Pain is rare.

Fluorescein angiography, a test for evaluating the retina and choroid, detects BR’s characteristic cream-colored spots, similar in appearance to the splattered pattern of birdshot from a shotgun.

BR is a chronic disease that flares up and then goes into remission. Although some people eventually lose vision, others maintain or recover good vision.

If you have been diagnosed with birdshot retinochoroidopathy, it is important to see your ophthalmologist regularly.

Coats’ Disease

Coats’ disease is a chronic, progressive disorder that affects the retina, the light-sensitive nerve layer at the back of the eye. Coats’ disease is an abnormal growth spurt of the small blood vessels (capillaries) that nourish the retina. The fragile abnormal vessels break and leak the clear serum part of the blood into the retina, causing the retina to swell.

Coats’ disease usually affects children (especially boys) in the first ten years of life, but it can also affect young adults. The condition affects central vision, typically in only one eye. Severity can range from mild vision loss to total retinal detachment and blindness. No cause has yet been identified for Coats’ disease.

The leaking blood vessels can be treated with laser surgery or cryotherapy (freezing). If the retina is detached, a vitrectomy to replace the vitreous (the clear gel-like substance inside the eye) with a gas bubble may be necessary to restore vision.

Macular Dystrophy

Macular dystrophy is a hereditary condition in which the macula degenerates. The macula is the part of your retina responsible for acute central vision: the vision one uses to read, watch television, and recognize faces.

Symptoms of macular dystrophy can range from minimal vision loss and disturbance of color vision to profound loss of reading and night vision. The most common types of macular dystrophies, which tend to appear early in life, are Best’s disease, Staargardt’s macular dystrophy, and bull’s eye maculopathy.

Considerable research is directed toward finding the hereditary cause of many types of macular dystrophies. With further research it may be possible to develop medical treatments to prevent or slow the progression of macular dystrophy.

Low-vision devices can help affected individuals continue with many of the activities of daily life.

Stargardt’s Disease

Stargardt’s is an inherited disease that affects the retina, the layer of light-sensitive cells lining the back of the eye. It usually becomes apparent between the ages of 8 and 14. Boys and girls are equally susceptible and more than one child in a family may have it.

Stargardt’s disease begins with slightly blurry vision that gradually gets worse. By the late 20s, vision is typically about 20/200, the level labeled legally blind. Remaining vision is good enough for most people to live fairly normal lives, though they won’t drive, or read without using magnification devices.

A build-up of lipofuscin (fatty substance) in retinal cells is thought to cause Stargardt’s disease. The buildup typically happens in the central retina, or macula, where it resembles beaten bronze. Or, it can occur in the side retina where it causes small white flecks. This form is called fundus flavimaculatus. Angiography, a special photograph of the retina, may aid in the diagnosis. Although no specific medical or surgical treatment is available, glasses and magnification help affected people adapt to the disease.

Retinoschisis

Retinoschisis is a genetic eye disease that splits the retina, the light-sensitive layer of cells lining the back of the eye. It occurs in two forms, one affecting young children, the other older adults. Both forms usually affect both eyes, though one eye may be worse than the other.

Because the disease is inherited on the X chromosome, childhood retinoschisis occurs in boys more than girls. It is usually detected because of poor vision.

If the split retina involves the peripheral or side retina, peripheral vision is lost. One is also at risk for a retinal detachment. But more commonly, retinoschisis affects the macula, the area of the retina responsible for central vision. In this location, one loses central vision.

Peripheral retinoschisis, more common in adults, is usually caused by aging and does not affect vision, but it can cause a retinal detachment. If detected early, a retinal detachment can be treated with surgery or laser therapy.
Adapted from
http://www.sabateseye.com