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Rare eye diseases: What causes them

Anjanette Cruz by Anjanette Cruz
March 1, 2021
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Rare eye diseases: What causes them
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While cataract, glaucoma, night blindness, dry eyes, conjunctivitis, and weak eyesight, are fairly common eye conditions we have heard of, there are many rare eye diseases and disorders about which most people are unaware.  Eye disease is considered to be rare if it doesn’t affect a significant amount of the total population. 

What causes rare eye diseases? While some of these diseases are idiopathic, some others are caused by genetic mutation or chronic ailments, increasing the risks of total vision loss or visual impairment. Although there is no permanent cure for most of these, many such diseases can be avoided with early detection. 

So, it is advisable not to ignore the early signs/symptoms and contact your eye care professional immediately, especially when the impact of these conditions is quite severe.

  1. Coloboma 

Coloboma is a rare, congenital eye condition in which foetal eye development is interrupted during the first three months of pregnancy. Here, the normal tissues of the eyelid, lens, macula, retina, optic nerve, or other parts are missing. In most cases, Coloboma is a result of a genetic condition known as Charge Syndrome. Often the cause of Coloboma is due to environmental factors, such as foetal exposure to narcotics, medications, and alcohol. The condition is also associated with other eye diseases, including cataracts, glaucoma, microphthalmia, heterochromia, nystagmus, or other genetic syndromes. Coloboma is found in around 10 among 100,000 infants.

  1. Charles Bonnet Syndrome

Charles Bonnet Syndrome often leads to severe vision loss in both the eyes, while causing hallucinations. In this condition, the person is fully aware of the unrealistic characters of hallucinations as they are not the result of any mental illness. When the person’s eyesight gets affected due to underlying causes such as glaucoma, stroke, diabetic retinopathy, and AMD, their visual capacity to capture new images diminishes. With the lack of real visual interpretation through the eyes, the brain fills the void with already stored memories or generates images from the person’s thought process. There is no permanent treatment, but the symptoms can be controlled with early detection. 

  1. Haemolacria: Bloody Tears

Haemolacria is another idiopathic rare eye condition that produces tears partially composed of blood. These bloody tears occur sporadically and vary in duration and frequency. However, in most cases, a person might not feel any pain. 

Some recent studies have linked medical conditions such as haemophilia, high blood pressure, conjunctival injuries, nosebleeds, blocked tear duct, or tumors in the eye to Haemolacria. According to eye specialists at AMRI Hospitals, a person should immediately consult a doctor to undertake full investigations that indicate any signs of a chronic ailment. The effective treatment will be decided based on the underlying cause.

  1. Retinoblastoma

Retinoblastoma is a cancerous tumor of the eye that develops from the retina cells and grows aggressively in size and quantity with age. The retina is responsible for perceiving light coming through the front of the eye and sending signals through the optic nerve to the brain, which is then interpreted as images. One of the most sensitive parts of the eye is only affected by genetic disorders; the Retinoblastoma gene is rare and affects children at an early age. A specialist can diagnose the condition, while observing signs like redness, swelling, enlarged pupil, crossed eyes, poor vision, a pupil that looks white instead of black, or different-colored irises. The condition can be cured successfully if detected early before the tumour spreads.

  1. Idiopathic Intracranial Hypertension

Idiopathic Intracranial Hypertension (IIH) also termed as ‘pseudotumor cerebri,’ is a rare but potentially vision-threatening condition caused by high pressure in the spaces between the brain and spinal cord. The spaces are protected by the cerebrospinal fluid (CSF), the excessive build-up of which puts pressure on the eye’s optic nerves. IIH is most commonly found in women in the age group of 20-50 years with symptoms such as headaches, blind spots, double vision, neck and shoulder pain, and peripheral vision loss. One of the significant risk factors of the condition is obesity; a sudden weight gain of the body increases the chance of developing IIH. 

Anjanette Cruz

Anjanette Cruz

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