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Rare Eye diseases to read and learn about

Have you ever gone on Facebook, or Youtube, and seen a video that was “this will freak you out”? Have you ever then decided you had to see it, and then proceeded to watch three or more videos related to that one just because you couldn’t look away? Well have we got the Blog for you!! Here is a list of different Diseases that can happen to our eyes. Some we would be born with, some can develop, But all are extremely rare.

 

Anophthalmia and Microphthalmia

Anophthalmia and microphthalmia are often used interchangeably. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. These rare disorders develop during pregnancy and can be associated with other birth defects. Causes of these conditions may include genetic mutations and abnormal chromosomes. There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments.

 

Bietti’s Crystalline Dystrophy

The symptoms of BCD include: crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction. BCD is a rare disease and appears to be more common in people with Asian ancestry.

People with BCD have crystals in some of their white blood cells (lymphocytes) that can be seen by using an electron microscope. Researchers have been unable to determine exactly what substance makes up these crystalline deposits. Their presence does not appear to harm the patient in any other way except to affect vision.

 

Behçet’s Disease of the Eye

Behçet’s disease is an autoimmune disease that results from damage to blood vessels throughout the body, particularly veins. In an autoimmune disease, the immune system attacks and harms the body’s own tissues. This disease is also known as adamantiades.

Behçet’s disease affects each person differently. The four most common symptoms are mouth sores, genital sores, inflammation inside of the eye, and skin problems. Inflammation inside of the eye (uveitis, retinitis, and iritis) occurs in more that half of those with Behçet’s disease and can cause blurred vision, pain, and redness.

Other symptoms may include arthritis, blood clots, and inflammation in the central nervous system and digestive organs.

 

Idiopathic Intracranial Hypertension

Intracranial hypertension is a condition due to high pressure within the spaces that surround the brain and spinal cord. These spaces are filled with cerebrospinal fluid (CSF), which cushions the brain from mechanical injury, provides nourishment, and carries away waste. The most common symptoms of intracranial hypertension are headaches and visual loss, including blind spots, poor peripheral (side) vision, double vision, and short temporary episodes of blindness. Many patients experience permanent vision loss. Other common symptoms include pulsatile tinnitus (ringing in the ears) and neck and shoulder pain. Intracranial hypertension can be either acute or chronic. In chronic intracranial hypertension, the increased CSF pressure can cause swelling and damage to the optic nerve—a condition called papilledema. Chronic intracranial hypertension can be caused by many conditions including certain drugs such as tetracycline, a blood clot in the brain, excessive intake of vitamin A, or brain tumor. It can also occur without a detectable cause. This is idiopathic intracranial hypertension (IIH). Because the symptoms of IIH can resemble those of a brain tumor, it is sometimes known by the older name pseudotumor cerebri, which means “false brain tumor.”

An estimated 100,000 Americans have IIH, and the number is rising as more people become obese or overweight. The disorder is most common in women between the ages of 20 and 50; about 5 percent of those affected are men. Obesity, defined as a body mass index (BMI) greater than 30, is a major risk factor. BMI is a number based on your weight and height. The Centers for Disease Control and Prevention offers an online BMI calculator(link is external). A recent gain of 5-15 percent of total body weight is also considered a risk factor for this disorder, even for people with a BMI less than 30.

Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina—which is the light sensitive tissue that lines the back of How does RP affect vision?the eye. Common symptoms include difficulty seeing at night and a loss of side (peripheral) vision.

RP is an inherited disorder that results from harmful changes in any one of more than 50 genes. These genes carry the instructions for making proteins that are needed in cells within the retina, called photoreceptors. Some of the changes, or mutations, within genes are so severe that the gene cannot make the required protein, limiting the cellís function. Other mutations produce a protein that is toxic to the cell. Still other mutations lead to an abnormal protein that doesnít function properly. In all three cases, the result is damage to the photoreceptors.

In the early stages of RP, rods are more severely affected than cones. As the rods die, people experience night blindness and a progressive loss of the visual field, the area of space that is visible at a given instant without moving the eyes. The loss of rods eventually leads to a breakdown and loss of cones. In the late stages of RP, as cones die, people tend to lose more of the visual field, developing ìtunnel vision.î They may have difficulty performing essential tasks of daily living such as reading, driving, walking without assistance, or recognizing faces and objects.

 

Retinoblastoma

Retinoblastoma is a type of cancer that forms in the retina (the light-sensitive tissue at the back of the eye). The disease usually occurs in children younger than 5 years and may be in one eye or in both eyes. In some cases the disease is inherited from a parent. Retinoblastoma is a serious, life-threatening disease. However, with early diagnosis and timely treatment, in most cases, a child’s eyesight and life can be saved.

 

Stargardt Disease

 

Stargardt disease is an inherited disorder of the retina – the tissue at the back of the eye that senses light. The disease typically causes vision loss during childhood or adolescence, Color fundus photography image from a Stargardt disease patient showing a central macular scar with some pigmentary changes and surrounding perimacular flecks.although in some forms, vision loss may not be noticed until later in adulthood. It is rare for people with the disease to become completely blind. For most people, vision loss progresses slowly over time to 20/200 or worse. (Normal vision is 20/20).

 

 

 

 

 

Usher Syndrome

Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. Retinitis pigmentosa causes night-blindness and a loss of peripheral visionPhotograph of the retina of a patient with Usher syndrome (left) compared to a normal retina (right). (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As retinitis pigmentosa progresses, the field of vision narrows, a condition known as “tunnel vision,” until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems.

 

 

 

 

Uveal Coloboma

 

Uveal coloboma is a rare condition that is not always well documented. Depending on the study and where the study was conducted, estimates range from 0.5 to 2.2 cases per 10,000 births. Some cases may go unnoticed because uveal coloboma does not always affect vision or the outside appearance of the eye. Uveal coloboma is a significant cause of blindness. Studies estimate that 5 to 10 percent of blind European children have uveal coloboma or uveal coloboma-related malformations.

 

 

 

Now if you would like to learn more about these diseases Click here and you can read further into them. I’ve only given you snips about each of them so there is more to learn. They are all interesting to read about and in most cases they don’t have any cures. So if you hear about any research into them such as Here, and Here, please think about donating to some really good causes.