Work

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

Year: 2024

Type: article

Abstract: To describe the ophthalmic presentation and management of a male infant with homozygous protein C deficiency (PCD). Case report. 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. Congenital PCD is a rare life-threatening disease that usually presents in infancy with purpura fulminans or disseminated intravascular coagulation. However, ophthalmologists should be aware of this condition, as its ocular signs may appear first. Early recognition, laser therapy of the attached ischemic retina and early vitrectomy may be successful in achieving good anatomical and functional outcomes.

Source: American Journal of Ophthalmology Case Reports

DOI: 10.1016/j.ajoc.2024.102206

Authors: Moath A. Alowairdhi, Mohammed I. Alkhodair, Alwaleed M. Alsulaiman, Sulaiman M. Alsulaiman

Institutions: King Saud bin Abdulaziz University for Health Sciences, King Khaled Eye Specialist Hospital

Language: English

Topic: Retinal and Macular Surgery

Subfield: Radiology, Nuclear Medicine and Imaging

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,340