9 Rare Eye Conditions: Marano Eye Care: Ophthalmology (2024)

Marano Eye Care Blog 9 Rare Eye Conditions

9 Rare Eye Conditions: Marano Eye Care: Ophthalmology (1)

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 includeglaucoma, which per the Glaucoma Research Foundation afflicts over 3 million people, andcataracts, 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.

Retinoblastoma

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 ustoday.

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9 Rare Eye Conditions: Marano Eye Care: Ophthalmology (2024)

FAQs

9 Rare Eye Conditions: Marano Eye Care: Ophthalmology? ›

The leading causes of blindness and low vision in the United States are primarily age-related eye diseases. Those diseases include age-related macular degeneration, cataract, diabetic retinopathy, and glaucoma. Other common eye disorders include amblyopia and strabismus.

What is the most rare eye condition? ›

20 Rare Eye Conditions That Ophthalmologists Treat
  • Charles Bonnet syndrome:
  • Hemolacria (bloody tears):
  • Retinitis pigmentosa:
  • Usher syndrome:
  • Stargardt disease (juvenile macular degeneration):
  • Retinoblastoma:
  • Best disease:
  • Leber hereditary optic neuropathy:
Oct 22, 2020

What are the most serious eye conditions? ›

The leading causes of blindness and low vision in the United States are primarily age-related eye diseases. Those diseases include age-related macular degeneration, cataract, diabetic retinopathy, and glaucoma. Other common eye disorders include amblyopia and strabismus.

What is the eye disease that Cannot be cured? ›

Stargardt's Disease is one, and like many others, it is incurable at present. This genetic macular degeneration affects young people of under 20 years old and is hereditary. One in every 10,000 people suffer from it although they may not be aware of this until they reach old age.

What is the rarest vision? ›

If you have 20/10 vision, you can see details at 20 feet that people with normal vision can only see at a distance of 10 feet. It is a rare level of visual acuity, with less than 1 percent of people achieving it.

What is a rare autoimmune disease in the eye? ›

Cogan syndrome is a rare autoimmune disease that can affect the cornea. Eye pain, decreased vision, increased sensitivity to bright light, and redness of the eye are common symptoms.

What is the rarest eye feature? ›

Gray eyes are among the rarest eye colors, with less than 1% of the world's population possessing this mesmerizing hue. Gray eyes are believed to be a variant of blue eyes, with the gray color resulting from a higher concentration of collagen fibers in the iris.

What is the eye disease that gets worse with age? ›

Age-related macular degeneration (AMD) can harm the sharp, central vision needed to see objects clearly and to do common things like driving and reading. Your eye care professional will ask about your family history and look for signs of AMD during a dilated eye exam.

What is a bad eye condition? ›

However, eye conditions such as glaucoma, retinal detachment, diabetic retinopathy and wet age-related macular degeneration can cause sudden damage to your eyes – even complete and permanent blindness, if your eye doctor doesn't detect and treat them early.

What eye condition is considered an emergency? ›

Seek emergency medical care if: There appears to be a scratch, cut, or something has gone into (penetrated) the eyeball. Any chemical gets into the eye. The eye is painful and red.

What are the hereditary eye conditions? ›

Many types of eye disease can be inherited. Most cases of blindness in infants are caused by inherited forms of eye diseases, such as glaucoma, cataracts, retinal degeneration and eye malformations. Furthermore, inheritable glaucoma and macular degeneration are two of the leading causes of blindness in adults.

Which eye disease is irreversible but treatable? ›

There's no cure for glaucoma, but early treatment can often stop the damage and protect your vision.

What is Charles Bonnet syndrome? ›

Charles Bonnet syndrome refers to the visual hallucinations caused by the brain's adjustment to significant vision loss. It occurs most often among the elderly who are more likely than any other age group to have eye conditions that affect sight, such as age-related macular degeneration.

What is the rarest eye problem? ›

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.

What is the most serious symptom with the eye? ›

Get emergency medical care if you have sudden changes in vision or an injury to your eye. Specific factors that may accompany urgent vision-related medical conditions include sudden onset of: Severe eye pain or irritation. Vision loss or double vision.

Who has the worst eyesight in the world? ›

The Three-toed Sloth has eyesight so poor that they are virtually unable to see anything in detail. This mammal's metabolism is so slow that even its cellular processes, including those in its eyes, are sluggish.

What is the rarest eye form? ›

Gray: The Rarest Eye Color
Eye ColorU.S. PopulationWorld Population
Gray and otherLess than 1%Less than 1%
Green9%2%
Hazel/amber18%10%
Blue27%8% to 10%
1 more row

What is a rare genetic condition in the eye? ›

Stargardt disease is a rare genetic eye disease that happens when fatty material builds up on the macula — the small part of the retina needed for sharp, central vision. Vision loss usually starts in childhood — but some people with Stargardt disease don't start to lose their vision until they're adults.

What is the most rare condition in the world? ›

This is considered to be the rarest disease in the world. Ribose-5-Phosphate Isomerase (RPI), is a crucial enzyme in a metabolic process in the human body. This condition can cause muscle stiffness, seizures, and reduction of white matter in the brain.

What is the rare eye phenomenon? ›

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.

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