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9 Rare Eye Conditions

Unusual Eye Conditions You Didn’t Know About

In any medical field, there are always going to be certain medical conditions that we see on a daily basis. For ophthalmologists, common conditions include glaucoma, which per the Glaucoma Research Foundation afflicts over 3 million people, and cataracts, which according to the National Eye Institute, half of individuals will have a cataract or cataract surgery by the age of 80. However, there are also eye-related medical conditions that people may never encounter. The following rare eye conditions appear in less than .01% of United States citizens, per the National Eye Institute.

Anophthalmia and Microphthalmia

While these two rare eye conditions are commonly used in substitution for each other, they are actually two separate but related conditions. Anophthalmia is a birth defect that results in the absence of one or both eyes. Micropthalmia is when one or both eyes is noticeably too small.

In the cases of both conditions, genetic mutations and abnormal chromosomes are believed to be at fault. Environmental factors are a challenge to pinpoint, put researchers have suggested X-rays, chemicals, drugs, pesticides, toxins, radiation and viruses may also be to blame. In other words, more research is still needed to determine what causes this defects.

Bietti’s Crystalline Dystrophy

Back in 1937, Italian ophthalmologist Dr. G. B. Bietti had three different patients with similar symptoms. Crystals were in the cornea and yellow shiny deposits were on the retina. Eventually, the back layers of the eye – the retina, choriocapillaries and choroid – would begin to atrophy. In patients since, crystals have also been found in white blood cells.

Currently, there is no treatment for BCD, though some believe that treatment will arise out of more genetic research.

Retinitis Pigmentosa

Retinitis Pigmentosa refers to a group of rare genetic disorders, all of which lead to the breaking down of cells in the retina. The retina is responsible for processing light and hosts rods and cones that interpret color and allow us to see at night. In RP, over 50 different genes can be afflicted. When the genetic mutations are severe enough, the cells in the retina aren’t provided with enough protein to function. In some cases, the protein is toxic. Over time, RP will cause the rods and cones in the eyes to die, impeding night and peripheral vision. Patients with the condition will also often find bright lights uncomfortable. Treatments for Retinitis Pigmentosa includes low-vision improvement aids for children and vitamin A drops for adults.


Perhaps the most life-threatening and most rare eye condition on the list, retinoblastoma is a cancer that affects the retina. Unfortunately, it is most commonly found in children under the age of five. The good news is that if the cancer is diagnosed early enough and treatment is delivered promptly, the vision and life of the child are possible to save.

Usher Syndrome

Unlike some of the other rare eye conditions on the list, Usher’s syndrome can also affect the hearing capacities of patients. While quite rare, it is curiously enough the most common condition that affects both hearing and vision. Usher syndrome is related to Retinitis Pigmentosa, but in addition to experiencing the symptoms of RP, people with Usher syndrome often have severe balance issues and hearing loss. Severity of the condition is typically broken down into three tiers, depending on the severity of vision, hearing, and balance impairment.

Uveal Coloboma

Because it is one of the most-rare eye conditions, it is not always properly diagnosed. For this reason, the National Eye Institute estimates that Uveal Coloboma occurs in between 0.5 to 2.2 cases per 10,000 births. Coloboma is used to help describe the absence of normal tissue in or around the eye. Consequently, the coloboma can affect the eyelid, lens, macula (handles daylight, fine and color vision), and the optic nerve. Because Uveal Coloboma patients are missing a component of the eye, it is responsible for a significant portion of blindness in newborns. However, not all patients are blind. Depending on the part of the eye affected, people with UC may suffer from mere light sensitivity or a more limited field of vision.

Uveal Coloboma has no cure, but corrective treatments are available for some patients.

Marano Eye Care is Here For You

No matter the condition, our ophthalmologists are here to serve anyone in New Jersey in need of top quality eye care. If you’re in need of eye care or concerned about your eye health, contact us today.

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