Eye and hearing diseases
A rare eye cancer that develops in the retina of young children. It is usually seen before the age of 5. When found early, it can usually be treated.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Eye and hearing diseases” group.
The RB1 gene normally stops cells from dividing out of control. When both copies of this gene are faulty, a cell in the retina multiplies and forms a tumor. The tumor can be in one eye or in both eyes. If it is not treated, it can spread outside the eye.
The first sign noticed is usually a white glow in the pupil.
The pupil is widened with drops and the retina is examined. In young children, this examination may be done under anesthesia. An ultrasound and an MRI of the eye are done. A tissue sample is usually not needed for the diagnosis. An RB1 gene test identifies the inherited type.
Treatment is planned by a team of children's cancer specialists and children's eye specialists. The aim is first to protect life, then the eye and vision. Laser, freezing, heat treatment, chemotherapy and radiotherapy can be used. Sometimes the eye needs to be removed with surgery. After treatment, regular eye checks are done to look for new tumors. In the inherited type, long-term follow-up is important because the risk of other cancers later in life is higher. The doctor who follows the disease decides which treatment is suitable.
About a third of retinoblastomas are inherited. The inherited type is passed on in a dominant way; the chance of the gene change passing to a child is 1 in 2 in each pregnancy. The change can come from a parent or be new. The remaining two thirds are not inherited and are not passed on to children. Regular eye examinations from an early age are important for babies with retinoblastoma in the family. Genetic counselling and testing determine the risk for brothers and sisters.
Source: MedlinePlus Genetics: Retinoblastoma · National Cancer Institute (NIH): Retinoblastoma Treatment (PDQ) – hasta sürümü · NORD: Retinoblastoma
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
Hacettepe University reviewed 491 children with retinoblastoma it had followed over 51 years.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
Questions you can ask your doctor
ClinicalTrials.gov lists 15 active interventional studies for this disease. 8 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT05504291
Middle stage: the effect is being tested in a small group · Phase 2 · investigational (experimental)RecruitingNCT06679634
Late stage: the effect is being compared in a large group · Phase 2 / Phase 3 · investigational (experimental)RecruitingNCT04681417
Early stage: safety and dose are being tested · Early phase 1 · investigational (experimental)RecruitingNCT06424301
Early stage: safety and dose are being tested · Early phase 1 · investigational (experimental)RecruitingNCT06972602
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeSGK and reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
USAResearch and clinical trials
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:790 · ICD-11 2D02.2
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.