Six Rare Eye Conditions You Probably Haven’t Heard Of

When your ophthalmologist examines your eyes, they have a valuable window into your ocular health and wellness. Regular exams help prevent or treat eye conditions, ranging from the most common, such as refractive errors that usually result in people getting glasses, to rare ones that affect fewer than 200,000 Americans.  

Read on to discover some of the rare and challenging eye conditions ophthalmologists treat, according to insights published by the American Academy of Ophthalmology (AAO):

Best Vitelliform Macular Dystrophy
Macular dystrophies are rare, inherited genetic eye conditions primarily affecting the macula, the part of the eye responsible for sharp, detailed central vision. People are typically born with Best disease, as it is known, but it can take many years to develop and may not impact vision until later in life.  

This condition causes an egg yolk-like residue to accumulate in the macula, slowly damaging cells and distorting central vision over time. There is no cure or treatment for this disease.

Charles Bonnet Syndrome
Have you ever looked at a piece of wood and noticed a pattern similar to a human face? Our brains always search for symbols and images in the world around us; if you experience vision loss, your brain might suddenly invent some whole cloth — causing disruptive visual hallucinations. 

Charles Bonnet syndrome occurs when a person with low vision experiences hallucinations. It’s believed that when the brain has trouble detecting images, such as among those with age-related macular degeneration (ARMD), the brain recalls what it’s seen before or makes things up to fill in the visual gaps. 

This syndrome frequently affects patients 80 years or older, who are more likely to have low vision, be socially isolated and live in dark environments. There’s no cure or treatment, but spending time in brightly lit environments with company can help those affected deal with their vision loss and hallucinations. 

Idiopathic Intracranial Hypertension
As the name suggests, doctors aren’t sure what causes this high pressure around the brain, but it can lead to headaches and vision changes. Idiopathic intracranial hypertension (IIH) occurs when there is too much cerebrospinal fluid built up in the skull. Normally, this fluid is present around the brain and spinal cord without issue; however, the extra pressure can lead to headaches, ringing ears, double vision, blind spots, peripheral vision loss and even temporary blindness.

Because its symptoms are so similar to that of a brain tumor, it’s sometimes referred to as a false tumor, according to the National Eye Institute (NEI).

Intracranial hypertension can occur for a variety of reasons, such as an accident, stroke or underlying health problem. However, when doctors can’t identify the root cause, it’s known as IIH. Weight loss is known to lessen the symptoms of IIH, plus there are medications and surgeries that can help.  

Optic Neuritis
As the main highway of visual information between the eye and the brain, your optic nerve plays an important role in your ability to see. Swelling of this nerve, known as optic neuritis, can lead to damage, blurring vision and causing pain when your eye moves. 

There are three types of optic neuritis: typical, which affects one eye; atypical, which affects both eyes and pediatric, which is the childhood form of the disease.

Eye issues can help us identify emerging health troubles: Optic neuritis can be the first symptom of multiple sclerosis (MS), but it can also occur later, according to the Mayo Clinic. It can also be associated with bacterial infections, such as Lyme disease and other causes, so contact your doctor promptly if you notice vision changes.

Polycoria
This extremely rare condition can cause the development of more than one pupil in each eye’s iris. The pupil is the central opening in the eye that controls how much light hits the retina; the pupil’s size changes in response to surrounding light, contracting in bright conditions and dilating in dim ones. 

With polycoria, both pupils respond to their surroundings, which can be more complicated than it sounds. People with this condition often report visual distortion, double vision and otherwise poor sight. 

Known causes of polycoria are limited, with only a few known cases of this disease ever recorded. Pseudopolycoria, however, is much more common and happens when eye injuries result in additional openings that merely look like pupils. 

Cystinosis
Cystine is a non-essential amino acid used in making protein and for other metabolic functions, according to the University of Rochester. It is the main protein in nails, skin and hair; it also helps maintain the body’s skin elasticity and texture as a valuable part of collagen.

Too much cystine can build up in the body as crystal deposits, damaging organs and tissues, such as the eyes, kidneys, brain, muscles, liver, thyroid, pancreas and testes. While there are different forms of cystinosis, cystine accumulation is common to all, starting in the cornea before moving throughout all layers of the eye. As the disease progresses and worsens, these crystals can be observed with the naked eye. Symptoms include photophobia, or light sensitivity, eye pain and impaired vision. Complications include various diseases of the cornea, corneal erosions and involuntary twitching or movement of the eyelids.

Infantile cystinosis is the most common form of this disease, but it can also appear in children and adults. The primary treatment is a medication called cysteamine, which helps lower the cystine levels in the body. 

Our eyes hold unmatched importance in how we live and engage with the world around us. Too many of us take this valued sense for granted, avoiding the eye doctor outright or ignoring concerning symptoms before they become serious. By keeping regular visits to your ophthalmologist, you can help protect your eye health and respond promptly to issues. To learn more, visit healthyvisionassociation.com/articles. 

Articles in this newsletter are supposed to be informative, enlightening and helpful to you. While all information contained herein is meant to be completely factual, it is always subject to change. Articles are not intended to provide medical advice, diagnosis or treatment. Consult your doctor regarding any concerns you have.