Retinoblastoma

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Disease description

Retinoblastoma is a malignant tumor of the retina that commonly affects children under the age of two. Approximately 25% of patients have bilateral hereditary involvement, 15% develop unilateral cancer, and 60% experience unilateral non-hereditary tumors.

The five-year survival rate for patients diagnosed at an early stage is 90%. However, in hereditary retinoblastoma, the recurrence rate doubles.

Symptoms indicating the need for diagnosis and treatment

  • Leukocoria (white pupillary reflex) — a white reflection from the retina that appears as a bright spot in the eye
  • Strabismus (crossed eyes)
  • Visual impairment
  • In late stages: orbital tumor, headaches, vomiting
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Diagnostic and treatment methods

Diagnostic

  • Ultrasound examination
  • Computed tomography (CT) or magnetic resonance imaging (MRI)
  • Optical coherence tomography (OCT)
  • Bone scanning
  • Bone marrow biopsy
  • Lumbar puncture (collection of cerebrospinal fluid)

Treatment

In advanced unilateral cancer, leading European hospitals use enucleation and chemotherapy. For bilateral tumors, treatment includes photocoagulation, intra-arterial chemotherapy, and cryotherapy.

Innovations in global clinics

World-class medical centers apply molecular genetic testing, conducted in two stages. This analysis identifies the genetic cause of retinoblastoma (detecting damaged DNA) and enables the selection of targeted, etiotropic treatment.