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Leukocoria – White Pupil Reflex: Causes and Diagnosis

Leukocoria refers to a whitish reflex in the pupil of the eye, which can indicate serious ocular conditions. Immediate ophthalmological evaluation is strongly recommended.

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Things worth knowing about "Leukocoria"

Leukocoria refers to a whitish reflex in the pupil of the eye, which can indicate serious ocular conditions. Immediate ophthalmological evaluation is strongly recommended.

What is Leukocoria?

Leukocoria (from Greek leukos = white and kore = pupil) describes an abnormal white or yellowish-white reflex visible in the pupil of the eye. Often referred to as a white pupillary reflex, it is frequently noticed in photographs when one eye appears bright white instead of showing the normal red-eye reflex. Leukocoria is not a disease in itself but rather an important clinical warning sign that may indicate a range of serious underlying eye conditions.

Causes

A white pupillary reflex can result from several conditions that alter the structures or light-reflecting properties within the eye:

Retinoblastoma: A malignant tumor of the retina and the most common life-threatening cause in children, which must always be excluded.
Cataract: Clouding of the eye lens; congenital cataracts are a frequent cause of leukocoria in infants.
Persistent Fetal Vasculature (PFV): A congenital abnormality where embryonic blood vessels in the vitreous body fail to regress.
Coats Disease: A condition involving abnormal retinal vessels that leak fluid beneath the retina.
Retinopathy of Prematurity (ROP): Abnormal retinal vascular development in premature infants.
Ocular Toxocariasis: A parasitic infection caused by the larvae of Toxocara canis affecting the retina.
Retinal Detachment: Separation of the retina from the underlying tissue.
Endophthalmitis: Severe intraocular inflammation or infection.

Signs and Detection

Leukocoria is a clinical sign rather than a symptom. Parents often notice it in photographs of their child when one eye appears white or yellowish instead of showing the normal red-eye effect. In a clinical setting, it is detected using a direct ophthalmoscope or by shining a light into the pupil.

Associated findings may include:

Squinting or crossed eyes (strabismus)
Reduced vision or unilateral blindness
Enlarged eye (buphthalmos)
Signs of ocular inflammation (redness, swelling)

Diagnosis

Leukocoria requires immediate referral to an ophthalmologist or a specialized eye clinic. Diagnostic evaluation typically includes:

Ophthalmoscopy: Examination of the fundus to assess the retina and vitreous.
Ocular Ultrasound (B-scan): Imaging of internal eye structures, especially when media opacities are present.
MRI or CT of the Orbit and Brain: To assess tumor extent or intracranial involvement.
Slit-lamp Examination: Detailed assessment of the lens, anterior chamber, and vitreous.
Electrophysiological Testing: Evaluation of retinal function, such as electroretinography (ERG).

Treatment

Treatment depends on the underlying cause and must be individually tailored:

Retinoblastoma: Depending on the stage, options include chemotherapy, focal treatments (laser photocoagulation, cryotherapy), brachytherapy, or in advanced cases, surgical removal of the eye (enucleation).
Cataract: Surgical removal of the cloudy lens followed by optical rehabilitation and amblyopia treatment.
Coats Disease: Laser photocoagulation or cryotherapy to treat leaking vessels.
PFV: Surgical removal of persistent tissue.
ROP: Laser treatment or intravitreal injection of anti-VEGF agents.

Because leukocoria can indicate a life-threatening or vision-threatening condition, prompt and accurate diagnosis is critical for preserving both the eye and the overall health of the patient.

References

Shields CL, Shields JA. Retinoblastoma Management: Advances in Enucleation, Intravenous Chemoreduction, and Intra-arterial Chemotherapy. Current Opinion in Ophthalmology, 2010.
Chung EM, et al. From the Archives of the AFIP: Pediatric Orbit Tumors and Tumorlike Lesions. RadioGraphics, 2007.
World Health Organization (WHO). Visual Impairment and Blindness – Key Facts. WHO, 2023. Available at: https://www.who.int/news-room/fact-sheets/detail/blindness-and-visual-impairment

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