Shedding Light on Retinoblastoma: Early Detection and Treatment Options

Retinoblastoma is a rare form of pediatric cancer that affects the retina. Retinoblastoma primarily affects children under the age of five, with approximately 8,000 cases diagnosed worldwide every year. The number of cases may be underestimated, especially in developing countries where diagnosis and treatment are often delayed. The condition arises from genetic mutations in the cells of the retina—the light-sensitive tissue at the back of the eye. Early detection plays a vital role in ensuring successful treatment outcomes. Parents and caregivers play an important role in recognizing early warning signs, such as a white glow or reflection in the pupil, crossed or misaligned eyes, sudden changes in vision, or a noticeable redness or swelling in the eye. If any of these symptoms are observed, it is imperative to seek immediate medical attention.

To catch retinoblastoma early, the significance of regular eye examinations including a simple torch light examination cannot be stressed enough. Pediatricians, family physicians, and ophthalmologists can perform these screening tests, especially in children below 2 years of age, looking for any abnormalities or signs of retinoblastoma. Early diagnosis not only increases the chances of successful treatment but also allows for better preservation of vision and reduces the need for more invasive therapies.

Retinoblastoma can be hereditary or non-hereditary. Hereditary retinoblastoma is caused by mutations in the RB1 gene, which is responsible for controlling cell division in the retina. For individuals with hereditary retinoblastoma, there is a higher risk of developing tumors in both eyes or multiple tumors within the same eye. In these cases, regular screening and close monitoring are crucial even after successful treatment, as new tumors can develop over time. For individuals with hereditary retinoblastoma, there is a higher risk of developing tumors in both eyes or multiple tumors within the same eye. In these cases, regular screening and close monitoring are crucial even after successful treatment, as new tumors can develop over time.

Several diagnostic tools and techniques aid in the early detection of retinoblastoma. Ophthalmoscopy, a simple and non-invasive procedure, allows doctors to examine the retina and detect any abnormalities. Imaging tests such as ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) provide more detailed information about the extent and location of the tumor. These diagnostic tools are essential in formulating an accurate diagnosis and staging of the tumor so that appropriate treatment can be planned.

Treatment options for retinoblastoma depend on various factors, including the stage and extent of the disease. When the tumor is localized within the eye, involves only one eye, and has not spread to other parts of the body, local treatments can be employed. These include laser therapy, cryotherapy (freezing the tumor cells), or chemotherapy delivered directly to the eye. These localized treatments are effective in destroying or shrinking the tumor while minimizing damage to the surrounding healthy tissues.

In cases where the cancer has advanced or spread beyond the eye, more extensive treatment approaches are necessary. Chemotherapy, either systemic (administered through veins) or intra-arterial (directly into the blood vessels supplying the eye), may be employed to combat the tumor and prevent its further progression. Surgical interventions, such as enucleation (removal of the affected eye) or exenteration (removal of the eye along with surrounding tissues), may be required in severe cases to ensure the cancer does not spread to other parts of the body. Occasionally, radiation therapy may be utilized to target and destroy cancer cells.

Support and care for children with retinoblastoma extend beyond the medical aspects. The emotional well-being of the child and their family is equally important. It is crucial to provide psychological support, counseling services, and access to support groups that can offer guidance and comfort during the treatment journey.

Dr. Vasudha N Rao, Pediatric Oncologist, Rainbow Children’s Hospital, Marathahalli, Bangalore.