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

被引：0

作者：

Miyauchi, Yuta ^{[1
]}

Egami, Naoki ^{[1
]}

Inoue, Hirosuke ^{[1
]}

Sonoda, Motoshi ^{[1
]}

Eguchi, Katsuhide ^{[1
]}

Ishimura, Masataka ^{[1
]}

Ochiai, Masayuki ^{[1
,2
]}

Tsukamoto, Shoko ^{[3
]}

Matsumoto, Shinya ^{[4
]}

Uchiumi, Takeshi ^{[5
]}

Sonoda, Koh-Hei ^{[3
]}

Ohga, Shouichi ^{[1
]}

机构：

[1] Kyushu Univ, Grad Sch Med Sci, Dept Pediat, Fukuoka, Japan

[2] Kyushu Univ, Res Ctr Environm & Dev Med Sci, Fukuoka, Japan

[3] Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Japan

[4] Kyushu Univ Hosp, Dept Clin Chem & Lab Med, Fukuoka, Japan

[5] Kyushu Univ, Grad Sch Med Sci, Dept Hlth Sci, Fukuoka, Japan

来源：

PEDIATRIC BLOOD & CANCER | 2025年 / 72卷 / 03期

关键词：

biallelic; ocular; PROC; protein C; vision disorders;

D O I：

10.1002/pbc.31518

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：4

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