Why the study?
Neonatal protein C deficiency presents with purpura fulminans or hemorrhagic infarction and has a poor prognosis.
Severe neonatal protein C deficiency is associated with devastating visual outcomes, suggesting that the eyes are the first organ affected and highlighting the potential need for prenatal intervention.
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Anticipate severe visual impairment in neonatal PC deficiency survivors; leaves open optimal prenatal strategies for PROC variants.
Neonatal protein C (PC) deficiency, which presents with purpura fulminans or hemorrhagic infarction, has a poor prognosis. In a sporadic case of prenatal-onset purpura fulminans, preemptive intervention saved the patient but not her vision. Among 38 survivors from 47 cases with ocular lesions and biallelic PROC variants, 23 had total blindness and eight had unilateral blindness. Only one had intact vision. Prenatal-onset ocular lesions occurred in 11 cases (29% [corneal opacities, n = 7; bilateral persistent hyperplastic primary vitreous, n = 1; both, n = 3]). The eyes are the first organ affected by heritable severe PC deficiency. Prenatal intervention is needed to improve visual outcomes.
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Egami et al. (2025) studied this question.
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