Leukocoria in a 2-Year-Old: Retinoblastoma vs. Other Causes
A 2-year-old boy is brought by his parents because of a white pupillary reflex noticed in photographs. Examination shows a white mass in the right eye, and the red reflex is absent. The left eye is normal. There is no family history of eye tumors. B-scan ultrasound shows an intraocular mass with calcification. The parents are anxious and ask about the possibility of saving the eye and the child's life.
1. List the differential diagnosis of leukocoria and explain which features point to retinoblastoma in this child.
Read the worked answer
Differential diagnosis of leukocoria:
- Retinoblastoma
- Congenital cataract
- Retinopathy of prematurity (advanced)
- Coats' disease
- Persistent fetal vasculature (PHPV)
- Toxocariasis
- Retinal detachment
- Vitreous hemorrhage
Features pointing to retinoblastoma:
- Age 2 years (peak incidence 1–2 years).
- White pupillary reflex (leukocoria) is the commonest presentation.
- B-scan showing an intraocular mass with calcification - highly suggestive of retinoblastoma (calcification is rare in Coats' disease or PHPV).
- No family history does not exclude it; most cases are sporadic.
Next steps: Examination under anesthesia, fundoscopy of both eyes, and imaging (MRI/CT) to assess extraocular extension and bilateral disease.
2. Discuss the management options for retinoblastoma, focusing on how the choice between enucleation and eye-sparing therapy is made.
Read the worked answer
Management principles:
- Life-saving first, then eye salvage, then vision preservation.
- Enucleation is indicated for advanced intraocular disease (Group D/E), massive tumor, or when eye-sparing therapy is unlikely to succeed. It provides excellent survival and allows histopathological staging.
- Eye-sparing therapies include systemic chemotherapy, intra-arterial chemotherapy, intravitreal chemotherapy, cryotherapy, laser photocoagulation, and plaque radiotherapy. These are chosen for less advanced disease or bilateral cases.
Decision factors:
- Tumor size, location, and grouping (International Classification).
- Presence of vitreous or subretinal seeds.
- Bilateral vs. unilateral disease.
- Potential for vision.
- Access to specialized centers.
In this child: The large mass with calcification and absent red reflex suggests advanced disease; enucleation may be the safest option, but referral to a specialist center for staging and discussion of eye-sparing therapy is essential. Genetic counseling and screening of the fellow eye are mandatory.