AI Article Synopsis
- Neonatal protein C deficiency can lead to severe conditions like purpura fulminans and has a generally poor prognosis, especially regarding vision.
- In a study of 38 survivors with biallelic PROC variants, a significant number suffered from severe visual impairments: 23 were totally blind, and only one had normal vision.
- Prenatal intervention is crucial to enhance visual outcomes, as ocular lesions often present early in these cases, affecting the eyes before other organs.
Article Abstract
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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| http://dx.doi.org/10.1002/pbc.31518 | DOI Listing |
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