Retinoblastoma
Last month, we discussed an ophthalmic condition that can present with leukocoria, the white pupil. Another condition that is on our radar with this presentation is retinoblastoma.
Known as one of the most common intraocular malignancies to affect the pediatric population. The estimated incidence is 3.4 to 42.6 cases per million live births worldwide. Typical manifestation will occur in young children, with higher rates in patients less than 4 years old and equal predilection in males and females. In 60% of cases, only 1 eye will be affected.
Retinoblastoma is caused by the RB1 gene which causes cells to grow uncontrollably into the retina and form a tumor. In roughly 40% of cases, the child will inherit the gene from a parent and the remaining 60% will occur spontaneously. The trigger for non-inheritable retinoblastomas is unclear.
Eyecare providers follow a classification system to assess the staging of the condition: 0-4 with stage 4 being the most aggressive presentation. It represents a larger tumor size with more retinal disruption of the tissue surrounding the tumor and increased metastasis to other parts of the body.
Additional signs or symptoms include strabismus (crossing eyes), red eyes, and ocular pain. The eye care provider will dilate the eyes to inspect the retina and may use MRI or ultrasound imaging to paint a picture of the tumor.
The main focus of treatment is to preserve life, the eye itself, and vision. A definitive treatment option is enucleation, which is a surgical procedure to remove the entire eye and its contents. Other options include chemotherapy, intra-arterial chemotherapy, radiation, and focal destructive therapy to attempt salvation of the globe. These may be executed in earlier stages of the condition as treatment options.
The American Academy of Pediatrics stresses the importance of practitioners to assess for any signs of leukocoria (white pupil) at each examination with neonates, infants, and children. Genetic testing for the RB1 gene is important especially if there is family history of retinoblastomas. Early detection is essential in preventing vision loss and survival rates in these patients.
Reference:
Cleveland clinic, https://www.uptodate.com/contents/retinoblastoma-clinical-presentation-evaluation-and-diagnosis, American Academy of Ophthalmology
