The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

Skip to main content

Retinoblastoma

The most common primary intraocular malignancy of childhood with high cure rates when detected early.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Onkoloji department. Book Appointment →

What is Retinoblastoma?

Retinoblastoma is the most common primary intraocular malignancy of childhood, occurring in approximately 1 in 15,000-20,000 live births. It arises from the retina, typically in children under 5 years of age, with most cases diagnosed before age 3. Retinoblastoma is a model genetic cancer arising from biallelic inactivation of the RB1 tumor suppressor gene (Knudson's two-hit hypothesis).

Retinoblastoma is classified as heritable (germline RB1 mutation, ~40% of cases, often bilateral, increased risk of secondary cancers) or non-heritable (somatic RB1 mutations, ~60%, typically unilateral). Approximately 25% of unilateral cases are heritable. Children with germline RB1 mutations have lifelong increased risk of secondary cancers (osteosarcoma, soft tissue sarcoma, melanoma, lung cancer) and require lifelong surveillance.

Survival rates exceed 95% in developed countries with prompt diagnosis and treatment, but vision and globe preservation depend on stage at presentation. Treatment has evolved from primary enucleation to globe-sparing therapies including chemotherapy (intravenous, intra-arterial, intravitreal), focal therapies (cryotherapy, laser), and radiation. International Intraocular Retinoblastoma Classification (IIRC) guides treatment intensity. In low-resource settings, late presentation with extraocular disease remains common and lethal.

Symptoms

Leukocoria (white pupillary reflex, 'cat's eye reflex') — most common sign
Strabismus (eye crossing) — second most common sign
Red, irritated eye
Glaucoma with eye pain and enlargement (advanced)
Vision loss in affected eye
Proptosis (advanced extraocular extension)
Periorbital swelling
Iris heterochromia or color changes
Hyphema or vitreous hemorrhage
Pupil dilation differences
Symptoms typically appear before age 3
Bilateral disease more common in heritable form
Family history of retinoblastoma
Often noticed in family photographs (white reflex)

Risk Factors

Family history of retinoblastoma (autosomal dominant with high penetrance)
Germline RB1 mutation (40% of cases, bilateral predisposition)
13q deletion syndrome (rare, with associated developmental issues)
Advanced paternal age (slightly increased)
Most cases sporadic without family history
Multiple tumors in one or both eyes (suggests heritable)
Onset before age 12 months (suggests heritable)
Heritable form: increased risk of secondary cancers (osteosarcoma, sarcoma, melanoma, lung)
Trilateral retinoblastoma: bilateral retinoblastoma plus pineoblastoma

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • White reflex in pupil (leukocoria) — urgent evaluation
  • Eye crossing (strabismus) in young child
  • Vision problems noticed by family
  • Red, painful eye
  • Eye that looks different in photographs (white instead of red reflex)
  • Family history of retinoblastoma — pediatric ophthalmology screening
  • Eye enlargement or proptosis
  • Routine pediatric eye check (red reflex testing in well-child visits)
  • Any persistent eye abnormality in child under 5

Treatment Methods

01
Multidisciplinary team: pediatric ophthalmology, ocular oncology, pediatric oncology, radiation oncology, genetics
02
Examination under anesthesia (EUA) with imaging: B-scan ultrasound, RetCam, MRI
03
International Intraocular Retinoblastoma Classification (IIRC) staging
04
Genetic testing: RB1 mutation analysis on tumor and germline
05
Genetic counseling for family
06
Globe-sparing therapy when feasible:
07
Systemic chemotherapy (chemoreduction): vincristine, etoposide, carboplatin
08
Intra-arterial chemotherapy (IAC): direct delivery via ophthalmic artery (melphalan, topotecan)
09
Intravitreal chemotherapy: for vitreous seeds (melphalan, topotecan)
10
Focal therapies: cryotherapy, laser thermotherapy, plaque brachytherapy
11
External beam radiation: rarely used now (secondary cancer risk in heritable)
12
Enucleation: for advanced unilateral disease, failed globe-sparing therapy
13
Optic nerve invasion: extended treatment with adjuvant chemotherapy
14
Extraocular/metastatic disease: high-dose chemotherapy, autologous stem cell rescue
15
Sibling and family screening: pediatric ophthalmology
16
Lifelong surveillance for heritable form: yearly oncology visits, MRI brain (trilateral), screening for secondary cancers
17
Avoid radiation in heritable form when possible (secondary cancer risk)
18
Prosthetic eye fitting after enucleation
19
Vision rehabilitation and educational support
20
Psychosocial support for child and family

Which Department to Visit?

You can visit our Onkoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Onkoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Related Health Topics

Other articles from the same department you may want to explore.

Anaemia

Dahiliye (İç Hastalıkları)

Anaemia is a low haemoglobin level that reduces oxygen delivery, causing fatigue, pallor, and shortness of breath. It is not a disease itself but a sign of many underlying conditions. Most cases are correctable with appropriate diagnosis and treatment.

Iron Deficiency Anaemia

Dahiliye (İç Hastalıkları)

Iron deficiency anaemia develops when dietary intake, absorption, or losses create an iron shortfall, most often affecting women and children. Identifying the underlying cause is the core of management, alongside iron replacement.

Vitamin B12 Deficiency

Dahiliye (İç Hastalıkları)

Vitamin B12 deficiency can cause megaloblastic anaemia, neurological symptoms, and cognitive impairment. Early treatment with intramuscular or oral B12 largely prevents irreversible complications.

Hypertension (High Blood Pressure) Management

Dahiliye (İç Hastalıkları)

Hypertension is often called the silent killer because it progresses symptom-free for years and can damage the heart, brain, kidneys, and eyes. Regular monitoring, lifestyle change, and evidence-based drug therapy dramatically reduce cardiovascular risk.

Chronic Kidney Disease

Dahiliye (İç Hastalıkları)

Chronic kidney disease is one of the most common complications of chronic conditions such as diabetes and hypertension, and can be silent in its early stages.

Hepatitis B (HBV)

Dahiliye (İç Hastalıkları)

Hepatitis B is a DNA virus infection causing acute and chronic hepatitis with risk of cirrhosis and hepatocellular carcinoma; diagnosis integrates HBsAg, HBeAg, anti-HBc, and HBV DNA with management based on disease phase using nucleos(t)ide analogues (entecavir, tenofovir) and universal infant vaccination.

Hepatitis C (HCV)

Dahiliye (İç Hastalıkları)

Hepatitis C is an RNA virus causing chronic hepatitis that may progress to cirrhosis and hepatocellular carcinoma; modern direct-acting antiviral (DAA) pangenotypic regimens (sofosbuvir/velpatasvir, glecaprevir/pibrentasvir) achieve sustained virologic response over 95% in 8–12 weeks with universal adult screening and cure for nearly all patients.

Fatty Liver Disease

Dahiliye (İç Hastalıkları)

Non-alcoholic fatty liver disease (NAFLD) is closely related to obesity and metabolic syndrome and is largely reversible with early treatment.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.