Clinical scenario: white eye reflex/ strabismus/ intraocular mas
A 2-year-old boy is brought to the ophthalmology clinic because his parents have noticed a white reflex in his left eye in several recent photographs. They also report new-onset strabismus. There is no history of trauma or fever. Ocular examination confirms leukocoria. Ocular ultrasonography demonstrates an intraocular mass containing multiple calcified foci.
What is the most likely diagnosis?
A. Coats disease
B. Congenital cataract
C. Ocular toxocariasis
D. Persistent fetal vasculature
E. Retinoblastoma
Correct answer & Explanation:
orrect Answer: E. Retinoblastoma
Explanation: Retinoblastoma
Retinoblastoma is the most common primary intraocular malignancy of childhood and typically presents before 5 years of age.
The diagnosis is suggested by:
- Leukocoria (most common presenting feature)
- New-onset strabismus
- Age younger than 5 years
- Intraocular calcification on ocular ultrasonography, which is highly characteristic of retinoblastoma
Retinoblastoma results from mutation of the RB1 tumor suppressor gene and may be hereditary or sporadic.
