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Most Deadly Eye Disease – Retinoblastoma

by Ana

There are many common eye diseases prevailed in the world. The most deadly Eye disease is Retinoblastoma.

What is Retinoblastoma?

Retinoblastoma is a Cancer that develops in the Retina of an Eye, in the light detecting tissues of an Eye.

The cure rate of this Cancer in the developed world is 95-98%. 9 out of 10 sufferers survive from this disease.


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Forms of Retinoblastoma

There are 2 forms of this disease.

  1. Genetic Heritable Form
  2. Non- Genetic Heritable Form

Non- Genetic Form

Almost 55% of children are suffering from Retinoblastoma due to Non- Genetic form. If anyone else in the family does not have the family history of this disease then it is known as Sporadic but it does not show that it is due non- genetic form.

Unilateral Retinoblastoma

If 1 Eye is affected by this disease then it is known as Unilateral Retinoblastoma.

Bilateral Retinoblastoma

If both the Eyes get affected of this disease then it is known as Bilateral Retinoblastoma.

The size of tumor in both Eyes may vary.

Trilateral Retinoblastoma

If the Pineal Gland is effected due to this disease along with the Retina than this condition is called as Trilateral Retinoblastoma.

The position, size and the quantity of tumor is taken in to consideration at the time of treatment of this disease.

Symptoms of Retinoblastoma

Following are the symptoms of Retinoblastoma

  • Abnormal appearance of Pupil.
  • Leukocoria.
  • Blurred vision.
  • Red Eye.
  • Irritated Eye.
  • Faltering growth.
  • Delayed development.
  • Squint Eye or crossed Eye.
  • Eye enlargement.

Frequency of Retinoblastoma

Retinoblastoma affects almost 1 in 15,000 live births. In U.K 40 to 50 new cases of Retinoblastoma are diagnosed every year.

Most of the children are diagnosed with this disease before the 5 years of age.

The cases of Bilateral Retinoblastoma are diagnosed within the first 9 months of age and the Unilateral Retinoblastoma is diagnosed with in the 24 and 30 months of age.

Causes of Retinoblastoma

In children with heritable genetic form of retinoblastoma there is a mutation on Chromosome 13 known as RB1 Gene. The Genetic Codes in Chromosome is responsible for the Cell growth and development of body. If any portion of Chromosome’s code is missing, Cancer is caused.

The defected RB1 Gene is inherited from either of the parents. The mutation occurs at the early of fetal development. The causes for the Gene abnormality is unknown, the fault may occur during the cell division.

Inherited forms of Retinoblastoma can cause Bilateral or Trilateral Retinoblastoma.

There are several methods for the detection of RB1 Gene mutation.

Diagnosis of Retinoblastoma

The position of tumor is visible with a simple Eye exam using an Ophthalmoscope to look through the Pupil.

A positive diagnosis is made under the influence of anesthesia.

A White Eye reflection is not always a positive indication of the disease. It can be caused by the light reflected badly; this condition is experienced in the Coat’s Disease.

In a photograph a Red Eye may be a sign of retinoblastoma. If 1 Eye is Red not the other then it may be a clearer sign of Cat’s Eye or White Eye.

The screening of a child’s Eye is done within first 3 months of life.

  1. The Red Reflex Test

    This test is done for the normal Reddish- Orange reflection from Eye’s Retina with the help of an Ophthalmoscope from 1 foot.This test is usually done in Dim Light or Dark Room.

  2. The Corneal Light Reflex

    Light is shined to each Cornea and it checks the Symmetrical reflection of light beam, it helps to identify whether the Eyes are crossed.

Differential Diagnosis of Retinoblastoma

  1. Persistent Hyperlastic Primary Vitreous

    It is a development of eye resulting from the failure of Embryological. In this condition Eye is shorter and a Cataract is developed with the Whitening of Pupil.

  2. Coat’s Disease

    It is a unilateral disease in which Blood Vessels develop abnormally behind the Retina.

  3. Toxocara Canis

    It is an infectious disease. It is caused due to exposure to infected puppies. This disease finally leads to Retinal Detachment.

  4. Retinopathy of Prematurity

    This disease is caused when the premature babies receive supplement Oxygen soon after their birth, it causes the damage to Retinal tissues.

    If the Eye tests are not normal then further tests may include Computerized Tomography, Magnetic Resonance Imaging and Ultrasound etc.

    The Microscopic appearance of Hereditary and Sporadic Retinoblastoma is same. The Tumor cells are found near Blood Vessels of an Eye.

Genetic Testing

The RBI Gene mutation can lead to the child’s Retinoblastoma. It is important to take its Clinical care for the prevention in siblings and offspring.

Treatment of Retinoblastoma

The treatment of Retinoblastoma varies from place to place.

This eye disease can be treated with the External Beam Radiation Therapy.

Sometimes the doctor uses Electron Beam to treat this problem.

The first effort of doctor is to save the life of a child, then to save the vision and then to decrease the complications of Eye Disease.

The time period for a treatment depends on the condition of a patient.

The Ophthalmologist and the Paediatric Oncologist first discusses about the condition of a patient and decides about the treatment.

Radiation Therapy is sometimes used to cure this disease.

Chemotherapy, Cryotherapy, Radioactive Plaques and Laser Therapy is also used to treat the Eye’s diseases.

Sometimes if the Cancer is spread to a large extent then Eye Ball of a patient is removed to save the linked body parts.

Sometimes a doctor uses the combination of therapies for the treatment of Eye diseases in a best possible way.

There was a time when the Retinoblastoma was not curable and patients use to dye of this disease but now with the advancements in the medical field the scientists have found the new ways to treat this disease in less time and with less painful methods. Now the patients of this disease are completely cured in a short time and with appropriate treatment.

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