Uncommon Ophthalmology: A Deeper Look Into The Rarest Eye Disorders

Our eyes, although small, are our window to the world and they play an important role in our day-to-day living. And as with any part of the human body, the eyes are susceptible to various disorders and ailments. Composed of a myriad of parts, this complex but vulnerable organ can catch an unfortunate disease that is not as common as others. In this article, we explore some of the rarest afflictions known to affect the human eyes.

Anophthalmia and Microphthalmia

These are birth defects of an infant’s eye(s). Anophthalmia refers to the disorder when a child is born without one or both eyes. On the other hand, microphthalmia is a defect in which one or both eyes did not develop fully, so they are small. These conditions occur during pregnancy and can develop in isolation, with other birth defects, or as part of a syndrome. They often result in limited vision or blindness. Researchers estimate that about one in every 5,300 infants born in the United States will have anophthalmia or microphthalmia.

These disorders have complex causes with environmental, genetic, and chromosomal factors identified. Certain medications like thalidomide or isotretinoin may cause anophthalmia and microphthalmia when taken during pregnancy. These defects might also be caused by a combination of other factors, such as the mother’s genes or anything she eats, drinks, or comes in contact with during her pregnancy.

The Centers for Disease Control and Prevention continues to conduct research on birth defects, such as anophthalmia and microphthalmia, and ways to prevent them. If you are expecting or planning to become a mother soon, consult your doctor about how you can increase your chances of having a healthy baby.

Behçet’s Syndrome

Behçet’s (beh-CHETS) disease is a rare affliction that causes abnormalities affecting the eyes and blood vessel inflammation throughout the body. More than half of those with the disease are reported with blurred vision, redness, and pain in the eyes. In some people, the illness also leads to skin problems, arthritis (stiff, painful joints), and swelling of the spinal cord, brain, and digestive tract.

Symptoms typically appear among individuals in their 20s or 30s, although the disease can hit at any age. It is more prevalent in Turkey, Japan, and Israel, and less common in the United States. The exact cause of Behçet’s disease is still unclear, but scientists theorize it is an autoimmune disease, where an environmental agent, like an infection, triggers the abnormal immune activity in people with a genetic predisposition to develop the disease.

Reports show that people with this disorder, especially those with Asian and Middle Eastern descent, have an increased frequency of certain HLAs or human leukocyte antigens. It’s a factor that may increase the risk to have the syndrome.

Most people with Behçet’s disease can lead productive lives and manage symptoms with proper rest, exercise, and medicine. Their medical team can prescribe drugs to treat inflammation, relieve pain, and prevent complications. Many patients experience periods of time when symptoms completely go away.


This is a type of eye cancer that starts in the retina – the part of your eye responsible for sensing light signals to be interpreted by your brain as images. Retinoblastoma rarely affects adults and most commonly occurs in children younger than two years. When nerve cells in the retina grow out of control, tumors start to develop. This prevents the eye from communicating properly with the brain. Tumors can be in one or both eyes, but they typically do not spread to other parts of the body.

A pediatric ophthalmologist will check the retina of the child by dilating the pupil with eye drops. The doctor may also provide medicine to make the child sleep and be comfortable during the exam. There are also tests, like magnetic resonance imaging or MRI, genetic testing, blood tests, and ultrasound of the eye, that can help with the diagnosis.

There are many treatments available for retinoblastoma. The medical team will try to kill the cancer cells, save the eye when possible, and help the child see clearly again if there’s a chance. Among the options are laser therapy, systemic chemotherapy, and radioactive plaques. They aim to deprive cancer cells of the nutrients they need while lessening the damage to surrounding healthy tissue.

Stargardt Disease

A type of inherited juvenile macular degeneration, the Stargardt disease results in progressive vision loss due to the death of photoreceptor cells in the central portion of the retina. It typically develops during childhood and adolescence. People who notice a change in their central vision must visit an eye doctor to get checked. Someone with Stargardt disease will have yellowish flecks in and under the macula. These might spread outward in a ring-like fashion.

These spots are deposits of lipofuscin, a fatty product of normal cell activity. They begin to become a problem when they build up excessively. The Foundation Fighting Blindness is currently looking into ways to prevent the abnormal accumulation of this substance in the eye.

Almost everyone with Stargardt disease can reach a visual acuity in the range of 20/200 to 20/400. The loss of vision is not correctable with contact lenses, prescription eyeglasses, or even refractive surgery. Patients also experience a decrease in color perception since the cells involved in this function is concentrated in the macula.

While there are currently no treatments for the disease, there are organizations supporting promising avenues of research, including stem cell, gene, and drug therapies. For people who already have significant vision loss, it might help to use sunglasses with UV blocking when going outdoors. Low vision aids are also available.

Some eye diseases are more common, while others affect only a small number of people. There is certainly a niche market of clinical trials to help patients manage their specific ophthalmic indications and improve their quality of life. While it may be disadvantageous to have a rarer disorder than others, there are eye care providers and research institutions that will do their best to aid with every case.



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