Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency

Area of Science:

• Ophthalmology
• Genetics
• Hematology

Background:

• Congenital protein C deficiency (PCD) is a rare, severe genetic disorder.
• PCD typically manifests in infancy with systemic thrombotic events like purpura fulminans.
• Ocular manifestations of PCD can be the initial presenting signs.

Observation:

• An 8-week-old male infant presented with bilateral vitreous hemorrhage and right eye tractional retinal detachment.
• Diagnostic workup confirmed low protein C levels.
• Genetic analysis revealed a homozygous pathogenic variant in the PROC gene.

Findings:

• The infant's ocular condition was successfully managed with laser photocoagulation and lens-sparing vitrectomy.
• The homozygous PROC gene variant was identified as the underlying cause.
• Both eyes achieved favorable anatomical and functional outcomes post-treatment.

Implications:

• Ophthalmologists must consider congenital PCD in infants with unexplained ocular hemorrhages and retinal detachments.
• Early diagnosis and multidisciplinary management, including ophthalmic interventions, are crucial for preserving vision in PCD patients.
• This case underscores the importance of recognizing ocular signs as potential early indicators of systemic genetic disorders.