Dr Nazia Anjum
World Retinoblastoma Awareness Week is observed globally in May, usually during the second week (11th-17th), to raise awareness about retinoblastoma. This rare and aggressive eye cancer primarily affects young children, typically under the age of five. The awareness week aims to educate the public and healthcare professionals about early detection, prompt treatment, and support for affected families. A white glow in a child’s eye, seen in flash photos or dim light, is the most common early sign of this cancer. Ninety percent of children are diagnosed because a parent sees this sign, but the time delay between first seeing the sign and seeking medical help is often several months or more. Ninety-six percent of children are cured today in the developed world, but many lose one or both eyes or suffer significant vision loss due to late diagnosis. Curative treatment often has lifelong physical and psychosocial impacts on young children.
The most prevalent malignant intraocular tumor in children is retinoblastoma. The estimated incidence is from 1 in 10,000 to 15,000 live births, although it varies. About 1,600 to 2,000 new cases of retinoblastoma occur in India each year, making it the country with the highest incidence. Most retinoblastoma cases are diagnosed by an ophthalmologist between 9 and 36 months of age. Approximately 60 to 70 percent of retinoblastomas are unilateral and unifocal, which are probably sporadic, whereas 30 to 40 percent are unilateral and bilateral or multifocal, which are heritable. To estimate prognosis, determine the risk of retinoblastoma in the family, and triage the frequency of screening of the contralateral eye and siblings, all parents and children with retinoblastoma should have an appropriate genetic test.
White reflex (50%) and strabismus (25%) are the two most common symptoms as well as signs of retinoblastoma. Creating parental awareness that any child with an abnormal reflex or squint needs to be immediately shown to an ophthalmologist can help in early diagnosis. Coats’ disease, persistent hyperplastic primary vitreous (PHPV), retinal astrocytoma, toxocariasis, and medulloepithelioma are the five most common causes of leucocoria simulating retinoblastoma. In order to diagnose retinoblastoma and identify clinical risk factors for baseline investigation triage, a thorough examination of both eyes under anesthesia is necessary. Baseline bone marrow biopsy and cerebrospinal fluid cytology are required if clinical risk indicators are present. If the condition appears to be unilateral, a comprehensive indented examination of the retinal periphery is necessary to test for retinoblastoma in the contralateral eye.
Wide-field fundus imaging, both baseline and serial, is essential for recording the tumor’s size and resolution as well as for identifying early recurrence. Ultrasound B-scan aids in measuring the tumor, locating it if it is exophytic or the media is unclear, and supporting the clinical diagnosis. Ultrasound biomicroscopy is necessary to assess the existence and degree of ciliary body invasion if there is clinical suspicion. CT scans can be a helpful adjunct in circumstances when intraocular calcification is a supporting diagnostic sign, although they are best avoided due to the risk of radiation exposure. Magnetic resonance imaging (MRI) is necessary for screening for pinealoblastoma in bilateral retinoblastoma and for assessing choroidal invasion, optic nerve infiltration, and extraocular extension in Group D and E malignancies. PET-CT scan can be used to test for macroscopic systemic metastases.
If detected early, retinoblastoma can typically be successfully treated. A child may lose some or all of their vision in the damaged eye, but the goal of treatment is to eradicate the malignancy. Key determining factors for treatment are the size of the cancer, the site of the cancer, whether it has spread, and how old and healthy the child is. The child may need to receive more than one type of treatment at the same time. Mild to severe adverse effects are possible with retinoblastoma treatments. Treatment options are medical and surgical, such as cryotherapy, laser therapy, chemotherapy, radiotherapy, and surgery. It is important to detect it early by the parents and grandparents. A white reflex in the eye should be considered as retinoblastoma until proven otherwise. Retinoblastoma cannot be prevented, although children with a family history of the condition need to undergo regular eye exams from birth. The likelihood of survival is greatly increased, and the disease can be identified early in this method.
(The writer is Assistant Professor, Department of Ophthalmology, AIIMS Jammu)