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

ABSTRACT:

Purpose

To describe the ophthalmic presentation and management of a male infant with homozygous protein C deficiency (PCD).

Methods

Case report.

Observation

An 8-week-old male infant presented with bilateral vitreous hemorrhage and tractional retinal detachment in the right eye. Work up revealed low protein C levels. Whole exome sequencing showed a homozygous likely pathogenic variant in PROC gene. The management included laser photocoagulation to both eyes followed by lens-sparing vitrectomy with membrane peeling to the right eye. Successful outcome was achieved in both eyes.

Conclusion and importance

Congenital PCD is a rare life-threatening disease that usually presents in infancy with purpura fulminans or disseminated intravascular coagulation. Howev

SUBMITTER: Alowairdhi MA 

PROVIDER: S-EPMC11550660 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature