What is the appropriate management for a 41-year-old adult presenting with leukokoria?

Management of Leukocoria in a 41-Year-Old Adult

A 41-year-old adult presenting with leukocoria requires immediate ophthalmologic evaluation followed by MRI of the orbits with and without contrast to identify the underlying intraocular or orbital pathology. 1

Initial Clinical Approach

Urgent ophthalmologic consultation is mandatory as leukocoria in adults, while less common than in children, indicates significant intraocular pathology that requires specialized assessment. 1 The ophthalmologist should perform:

• Comprehensive ophthalmoscopy to visualize the posterior segment and identify the source of the white pupillary reflex 1
• Ophthalmology-directed ultrasound for initial characterization of intraocular masses or abnormalities 1
• Dilated fundoscopic examination to maximize visualization of retinal and vitreous pathology 2

Diagnostic Imaging Strategy

Primary Imaging Modality

MRI of the orbits without and with contrast is the optimal imaging study for adults with leukocoria when a mass lesion is suspected within the globe, optic nerve, or adjacent orbital soft tissues. 1 This modality provides:

• Superior soft tissue characterization compared to CT 1
• Ability to localize and characterize the primary lesion causing the leukocoria 1
• Assessment for potential intracranial extension if needed 1

Complementary Imaging

CT of the orbits serves as a complementary study to assess for calcification (important for certain diagnoses) and evaluate bony orbital structures. 1 However, MRI remains the primary modality for soft tissue evaluation.

Differential Diagnosis Considerations in Adults

While leukocoria is more commonly discussed in pediatric populations, any condition preventing light passage through the globe can cause leukocoria in adults, including:

• Intraocular tumors (primary or metastatic) 1, 3
• Advanced cataracts 4
• Vitreous hemorrhage or opacification 3
• Retinal detachment 3, 4
• Inflammatory conditions affecting the vitreous or retina 3

Critical Pitfalls to Avoid

Do not attempt diagnosis through an undilated pupil alone, as this significantly reduces sensitivity for detecting the underlying pathology. 2 Pharmacologic dilation is essential for adequate visualization.

Do not delay ophthalmologic referral while awaiting imaging, as many conditions can be diagnosed clinically by an ophthalmologist and may require urgent intervention. 1

Do not assume leukocoria in adults has the same differential as in children—while retinoblastoma dominates pediatric cases, adults more commonly present with acquired conditions such as cataracts, inflammatory disease, or secondary malignancies. 1, 3, 4

Algorithmic Approach

1. Immediate ophthalmology consultation for dilated examination and ophthalmoscopy 1
2. Ophthalmology-directed ultrasound at time of initial evaluation 1
3. MRI orbits with and without contrast as definitive imaging study 1
4. CT orbits if calcification assessment or bony detail needed 1
5. MRI brain with contrast if intracranial extension suspected 1

Treatment depends entirely on the underlying diagnosis identified through this workup and should be directed by ophthalmology in collaboration with appropriate subspecialists (oncology, retina, etc.). 1