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21st May 2022 (8 Topics)

What is retinoblastoma, the common eye cancer in children?

Context

Nearly 1,500-2,000 children are diagnosed with retinoblastoma every year in India.

About

Retinoblastoma:

  • It is the most common cancer in the eye (malignant tumor) in small children.
  • It can occur in one or both eyes.
  • It may be hereditary or sporadic.
  • It can be life-threatening as well as take away vision if not treated timely and is detected by seeing White Reflex (WR).

Symptoms:

  • White Reflex in the eye: Pupil that looks white or yellow instead of red when light hits it.
  • Squinting: A crossed eye, looking either toward the nose or towards the ear.
  • Poor vision with or without WR.
  • The eye may be red or painful also.

Causes:

  • Mutations in the RB1 gene are responsible for most cases of retinoblastoma. 
  • RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and stops cells from dividing too rapidly or in an uncontrolled way.
  • Most mutations in the RB1 gene prevent it from making any functional protein, so cells are unable to regulate cell division effectively.
  • As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor.

Diagnosis and Treatment:

  • Retinoblastoma is often curable when it is diagnosed early.
  • However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body.
  • This advanced form of retinoblastoma can be life-threatening.

Retinoblastoma disease burden

  • Nearly 1,500-2,000 children are diagnosed with retinoblastoma every year in India.
  • The majority of these children belong to lower socio-economic strata of society and nearly 60 per cent of these patients have advanced disease at presentation.
  • It is associated with low treatment and survival rates which are due to lack of awareness, social stigma, poor access to care, high cost of treatment, lack of infrastructure, health professionals, good treatment protocols, quality drugs, diagnostics, and supportive care.
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