What is retinoblastoma?

Retinoblastoma is a rare and serious type of cancer that originates in the tissues of the retina, the light-sensitive nerve layer that lines the inner back wall of the eye [2]. The primary function of the retina is to receive light and convert it into electrical signals sent via the optic nerve to the brain, allowing us to see clearly. This tumor forms when malignant cells develop within these tissues. Although this disease can affect individuals of any age, it is most common among children under the age of two [2].

Warning Signs and Symptoms

Early recognition of retinoblastoma symptoms is vital, as it can significantly improve treatment outcomes. One of the most noticeable signs is a white reflection in the pupil instead of the usual red color, which parents often observe in photos taken with a camera flash or in low-light conditions [5]. Additionally, attention should be paid to any of the following signs that may indicate a health issue requiring immediate evaluation:

• Noticing misalignment of the eyes or uncoordinated eye movement, where the eyes appear to look in different directions.
• Eye redness or pain without a clear cause.
• Unusual swelling or bulging in the tissues surrounding the eye.
• Changes in the color of the iris or cloudiness in the pupil and the colored part of the eye.
• Poor vision or uncontrolled eye movements [5].

These symptoms do not necessarily mean cancer is present, but they require an urgent medical examination by an ophthalmologist to ensure the child's well-being.

Genetic Factors and Origins

Retinoblastoma is classified into two types: hereditary and non-hereditary. The hereditary type is associated with a specific mutation in a gene known as RB1, which may be inherited from parents or occur randomly in the very early stages of fetal development [2]. Children with this hereditary type may be more susceptible to developing additional tumors, making regular follow-ups an integral part of their health management. The non-hereditary type is not passed down through generations and results from mutations that occur by chance after birth, usually limited to only one eye [2].

Diagnosis and Assessment Procedures

Doctors rely on precise eye examinations to reach an accurate diagnosis. Examining children often requires an examination under general anesthesia to ensure a clear view of the retina and optic nerves without the child moving [4]. Diagnostic tools include using an ophthalmoscope to examine the back of the eye, ultrasound imaging to obtain detailed images of internal tissues, and magnetic resonance imaging (MRI) to assess the extent of tumor spread around the eye or into the brain [2]. It is helpful to read our specialized article on Childhood Eye Cancer: Signs, Early Diagnosis, and Treatment Options (Arabic) to understand the clinical steps more deeply.

Follow-up and Prognosis

Treatment plans vary based on the size, number, and extent of the tumor, whether it is confined within the eye or has extended outside it. Adherence to a regular check-up schedule is essential, especially in cases where the eye is preserved, to detect any tumor recurrence early. Parents should always discuss available options, such as chemotherapy, radiotherapy, or local therapies, with the specialized medical team to arrive at the most appropriate care plan for their child [2].

Medical references

• Retinoblastoma Treatment (PDQ®)–Patient Version
• Tests and next steps for retinoblastoma - NHS
• Symptoms of retinoblastoma - NHS