Protein C Deficiency
General: Autosomal recessive; congenital; heterozygous individuals predisposed to recurrent venous thrombosis; homozygous individuals may develop widespread thrombotic complications in neonatal period; reduced clotting ability; neonatal protein C deficiency also may be acquired and transient in ill preterm babies.
Ocular: Vitreous opacities; vitreous hemorrhages; retinal detachment; cataract; shallow anterior chamber; leukocoria; prominent iris vessels; iris synechiae to lens; bilateral involvement; retinal hemorrhages; cavernous sinus thrombosis.
Clinical: Hematomas; epistaxis; prolonged bleeding; hydrocephalus; Candida sepsis; subarachnoid hemorrhage; pulmonary embolism; thrombotic hemorrhagic gastrointestinal and genitourinary mucosal infarcts.
Cassels-Brown A, et al. Ophthalmic manifestations of neonatal protein C deficiency. Br J Ophthalmol 1994; 78: 486-487.
Pulido JS, et al. Protein C deficiency associated with vitreous hemorrhage in a neonate. Am J Ophthalmol 1987; 104: 546-547.
Seligsohn U, et al. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med 1984; 310:599.
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