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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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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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