What is the appropriate management and treatment approach for a pediatric patient presenting with leucocoria, potentially indicating an underlying condition such as retinoblastoma?

Leucocoria: Clinical Management and Treatment Approach

Immediate Action Required

Any child presenting with leucocoria requires urgent same-day referral to a pediatric ophthalmologist without delay for additional testing or imaging, as this is an absolute indication for specialist evaluation that may represent life-threatening retinoblastoma. 1, 2

Leucocoria—defined as abnormal white pupillary reflection instead of the normal red reflex—represents a critical ophthalmologic emergency in pediatric patients. 3 The most concerning etiology is retinoblastoma, which can result in permanent vision loss or death if treatment is postponed. 1

Differential Diagnosis by Frequency

The common causes of leucocoria in children include: 3

• Retinoblastoma (most common malignant cause—must be assumed until proven otherwise) 2, 4
• Congenital cataract (lens opacity blocking light transmission) 1
• Persistent hyperplastic primary vitreous (PHPV) (associated with microphthalmia) 3
• Retinopathy of prematurity (associated with microphthalmia) 3
• Coats disease (normal-sized globe, no calcifications) 3
• Larval granulomatosis/ocular toxocariasis (uncommon in infants <6 weeks) 3, 2

Critical Diagnostic Evaluation by Ophthalmologist

The pediatric ophthalmologist will perform the following essential examinations: 1

• Fundoscopic examination under dilation to evaluate the posterior segment and definitively rule out retinoblastoma 1
• Cycloplegic refraction to accurately determine refractive error and assess for media opacities 1
• Ocular ultrasound (B-scan) when direct visualization is blocked by media opacity—this is the initial imaging modality of choice to characterize intraocular pathology, detect calcifications, and assess for retinal detachment without radiation exposure 1, 3

Imaging Algorithm

Initial imaging should be ocular ultrasound performed by the ophthalmologist, NOT CT or plain radiography. 1

When Advanced Imaging Is Indicated:

• MRI head and orbits with and without IV contrast is the most useful imaging modality for evaluating malignant intraocular masses (retinoblastoma), demonstrating retrolaminar optic nerve infiltration, choroid-scleral involvement, orbital invasion, concurrent intracranial tumor, and possible intracranial spread 3, 2

• CT orbits with IV contrast may be helpful for detecting calcifications characteristic of retinoblastoma (differentiating from PHPV and Coats disease which lack calcification), but should be avoided as initial imaging due to radiation exposure concerns in retinoblastoma patients 3, 2, 4

Key Imaging Differentiators:

• Presence of calcification on CT is pathognomonic for retinoblastoma and distinguishes it from PHPV and Coats disease 4, 3
• Microphthalmia suggests PHPV or retinopathy of prematurity rather than retinoblastoma or Coats disease (normal-sized globe) 3
• Postcontrast enhancement on MRI helps differentiate retinoblastoma from Coats disease, PHPV, or retinopathy of prematurity 3

High-Risk Populations Requiring Screening

Children with the following risk factors require comprehensive ophthalmologic examination even without symptoms: 3

• Family history of retinoblastoma (these children benefit from clinical surveillance via early, routine dilated funduscopic examinations from birth, resulting in earlier diagnosis and better ocular survival) 5, 3
• Family history of congenital cataracts or congenital glaucoma 3
• Prematurity (at risk for retinopathy of prematurity) 3
• Down syndrome, neurofibromatosis, or other systemic syndromes with ocular involvement 3
• Exposure during gestation to specific drugs or alcohol known to cause ocular anomalies 3

Critical Pitfalls to Avoid

Never assume the diagnosis is benign simply because the child is developing normally systemically—both congenital cataract and retinoblastoma can present with normal systemic development while causing severe unilateral visual impairment. 1

Never delay referral while attempting outpatient workup or obtaining imaging—leucocoria in any child is an ophthalmologic emergency. 1, 2

Never initiate corticosteroid treatment before ophthalmologic examination, as this may worsen infectious conditions or mask accurate diagnosis. 2

Always listen to parents when they express concern about their child's eyes—family members detect the majority of retinoblastoma cases (80%) compared to pediatricians (8%) or ophthalmologists (10%), and mothers are often the first to notice abnormalities even when they cannot provide precise descriptions. 5, 6

Prognosis and Treatment Implications

Presentation with leucocoria correlates with excellent patient survival (>86% at 5 years) but poor ocular survival in both unilateral (4% at 5 years) and bilateral patients (29% at 5 years). 5 This underscores that saving eyes and vision requires disease recognition before leucocoria develops—emphasizing the critical importance of routine red reflex screening and immediate referral when abnormalities are detected. 5

When retinoblastoma is detected at a stage where it remains contained within the retina, subretinal space, or vitreous, the cancer is curable with survival exceeding 95% when diagnosed early and treated in specialized centers. 7, 8 However, survival rates drop below 50% with extraocular tumor dissemination. 8