Bilateral leukocoria in infant with afibrinogenemia

Area of Science:

• Ophthalmology
• Hematology
• Pediatrics

Background:

• Congenital afibrinogenemia is a rare autosomal recessive disorder.
• It is characterized by a complete absence of fibrinogen in the blood.
• This condition predisposes individuals to significant bleeding complications.

Observation:

• A case report detailing a patient with congenital afibrinogenemia presenting with bilateral leukocoria.
• The patient exhibited bilateral retinal and vitreous hemorrhages.
• Ophthalmic and radiological examinations were performed, followed by vitreoretinal surgery.

Findings:

• The right eye achieved a complete recovery post-surgery, with an attached retina and clear media.
• The left eye developed severe proliferative vitreoretinopathy and retinal shortening, ultimately becoming phthisical.
• Long-term follow-up revealed distinct outcomes for each eye.

Implications:

• Broad clotting profile screening is recommended for infants with unexplained vitreous or retinal hemorrhages.
• Afibrinogenemia should be considered in the differential diagnosis of bilateral leukocoria.
• This case highlights the importance of recognizing rare bleeding disorders in pediatric ophthalmology.