American journal of ophthalmology case reports · 2024
Lens-sparing vitrectomy for pediatric tractional retinal detachment in homozygous protein C deficiency.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Alowairdhi Moath A, Alkhodair Mohammed I, Alsulaiman Alwaleed M, Alsulaiman Sulaiman M
Аннотация
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. 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.
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. 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.