Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review

Yuta Miyauchi; Naoki Egami; Hirosuke Inoue; Motoshi Sonoda; Katsuhide Eguchi; Masataka Ishimura; Masayuki Ochiai; Shoko Tsukamoto; Shinya Matsumoto; Takeshi Uchiumi; Koh-Hei Sonoda; Shouichi Ohga

doi:10.1002/pbc.31518

Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review

Yuta Miyauchi, Naoki Egami, Hirosuke Inoue, Motoshi Sonoda, Katsuhide Eguchi, Masataka Ishimura, Masayuki Ochiai, Shoko Tsukamoto, Shinya Matsumoto, Takeshi Uchiumi, Koh-Hei Sonoda, Shouichi Ohga

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	e31518
Journal	Medical and Pediatric Oncology
DOIs	https://doi.org/10.1002/pbc.31518
Publication status	E-pub ahead of print - Jan 5 2025

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Miyauchi, Y., Egami, N., Inoue, H., Sonoda, M., Eguchi, K., Ishimura, M., Ochiai, M., Tsukamoto, S., Matsumoto, S., Uchiumi, T., Sonoda, K.-H., & Ohga, S. (2025). Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review. Medical and Pediatric Oncology, e31518. Advance online publication. https://doi.org/10.1002/pbc.31518

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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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T1 - Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency

T2 - Case Report and Literature Review

AU - Miyauchi, Yuta

AU - Egami, Naoki

AU - Inoue, Hirosuke

AU - Sonoda, Motoshi

AU - Eguchi, Katsuhide

AU - Ishimura, Masataka

AU - Ochiai, Masayuki

AU - Tsukamoto, Shoko

AU - Matsumoto, Shinya

AU - Uchiumi, Takeshi

AU - Sonoda, Koh-Hei

AU - Ohga, Shouichi

PY - 2025/1/5

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AB - 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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DO - 10.1002/pbc.31518

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JO - Medical and Pediatric Oncology

JF - Medical and Pediatric Oncology

ER -

Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review

Abstract

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