A 5-month-old boy is brought to the ophthalmologist due to a "blur" in one eye noted since birth. Parents also notice that his eyes are sometimes misaligned. Examination of the left eye reveals poor red reflex, leukocoria, and a relative afferent pupillary defect. B-scan ultrasound shows multiple retinal masses with dystrophic calcifications OS. Which of the following findings would place this patient at highest risk for systemic metastasis?
A. Presence of multiple dystrophic calcifications
B. Flexner-Wintersteiner rosettes on histology
C. Masses present in both eyes
D. Extension past the lamina cribrosa
The correct answer is D.
This 5-month-old baby most likely has retinoblastoma due to his young age and clinical findings of leukocoria, poor red reflex, relative afferent pupillary defect, and calcified retinal masses in his eye. In the figure shown above, there are also multiple tumors present in posterior pole OD and an amelanotic large endophytic mass OS.
There are a few known risk factors for systemic metastasis of retinoblastoma such as invasion beyond lamina cribrosa of the optic nerve, >2mm invasion of choroid, orbital extension, and anterior chamber involvement. A review by Finger et al. also mentions bilaterality of the tumor, age of treatment, and age of diagnosis . They found the highest risk factors of metastasis to be invasion of the orbit, optic nerve, and uvea.
Finger, P. T., Harbour, J. W., & Karcioglu, Z. A. (2002). Risk Factors for Metastasis in Retinoblastoma. Survey of Ophthalmology, 47(1), 1–16. doi:10.1016/s0039-6257(01)00279-x