Five rare diseases that lurk deep inside the eye

Five rare diseases that lurk deep inside the eye

Whether or not you believe the eyes are the window to the soul, there’s no doubt that peering into pupils can help doctors detect health problems.

Some are serious and rare and can only be detected when your doctor shines a light into your eyes or an optometrist or ophthalmologist dilates your pupils to look for nerve and blood vessel damage. Children benefit significantly from eye exams and pre-school eye screenings.

Below are five rare eye diseases that lurk deep inside the eyes. Read on to learn how they can affect vision and overall health.

Coats’ disease is a rare eye disease that can lead to blindness in one eye. It’s caused by an abnormal development of the blood vessels of the retina. Symptoms depend on the size and extent of the affected blood vessels, and typically begin between 6 and 8 years of age.

The disease may initially cause some vision loss or the eyes to appear crossed. A white mass also can develop in the pupil behind the lens.

As Coats’ disease progresses, individuals may develop glaucoma, cataracts or a reddish discoloration in the iris. The affected eyeball may also shrink and the middle layer of the eye may swell or become irritated.

It’s unknown what causes Coats’, but researchers suspect a genetic link. Treatment options are dictated by the stage of the disease when diagnosed. Often, doctors focus on closing the vessels that are leaking and salvaging as much vision as possible. However, advanced cases may require surgery.

Retinoblastoma is a life-threatening cancer that forms in the retina. It causes the pupil to appear white instead of red when light shines into it. This can be seen on a flash photograph. Other symptoms include eyes that appear to be looking in different directions, and pain or redness in the eye.

Retinoblastoma usually affects children younger than 5, and may affect one or both eyes. It can spread to other areas around the eye, brain or other parts of the body.

In some cases, the disease is inherited, so specialists recommend parents and siblings get an eye exam by an ophthalmologist with training in the disease. If diagnosed early, less-intense treatment may be necessary, but the primary goal of the child’s cancer care team is to first save the child’s life, then vision, if possible.

Microphthalmia is a disorder that makes one or both eyes abnormally small, while anophthalmia is the absence of one or both eyes.

Both conditions develop during pregnancy, potentially from a genetic mutation and abnormal chromosomes. Some researchers believe exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses increase the risk of the diseases. However, research is not conclusive. Sometimes, the cause in an individual patient can’t be determined.

There’s no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. Children can be fitted for an artificial eye for cosmetic purposes, but will need conformers to support the face and make the eye socket grow.

Best disease is an inherited form of macular degeneration that leads to loss of central vision, which allows you to see fine details and color.

In the initial stages of the disease, a bright yellow cyst forms under the retinal pigment epithelium (RPE) beneath the macula. Some with Best disease can have normal or near-normal vision for many years. For others, the cyst eventually bursts, causing further vision loss. This usually occurs late in life.

Best disease may not affect both eyes equally. Many individuals retain useful central vision in one eye.

Currently, there is no treatment for Best disease.

Gyrate atrophy affects the choroid, or the thin coating of the eye, and retina leading to gradual vision loss. Total blindness usually occurs between the ages of 40 and 60.

The disease is caused by a mutated gene found on chromosome 10.

Research shows that a low protein diet, supplemented with essential amino acids can benefit most patients by delaying the progression of the disease. Researchers are also investigating variant mutations of the inherited gene in hopes of developing a cure.

Sources: National Eye Institute, Retina International, National Center for Advancing Translational Sciences, National Cancer Institute, American Academy of Ophthalmology


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