Persistent Fetal Vasculature and Severe Protein C Deficiency

Molecular Syndromology

H. Rafferty¹  M. Morgan¹  I.K. Temple¹  N.C. Foulds¹  P. Hodgkins¹  A. Nagra¹  A.G.L. Douglas¹ 

[1]aAcademic Unit of Genetic Medicine, Division of Human Genetics, School of Medicine, University of Southampton, Southampton, UK

关键词: Bilateral renal vein thrombosis;    Leukocoria;    Microphthalmia;    Persistent fetal vasculature;    Persistent hyperplastic primary vitreous;    PROC;    Protein C deficiency;    Purpura fulminans;    Vitreoretinal dysplasia;   

DOI  :  10.1159/000302372

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Persistent fetal vasculature (PFV) is most often a condition of unknown cause. It represents persisting elements of fetal ocular vessels including the hyaloid arterial network. Protein C is a vitamin K-dependent serine protease, which regulates coagulation. Deficiency of protein C leads to a prothrombotic state. We report the case of a male infant born at 34 weeks gestation to non-consanguineous parents. Ophthalmic examination found bilateral PFV, microphthalmia and vitreoretinal dysplasia. He also suffered bilateral renal vein thrombosis and purpura fulminans and was diagnosed with severe protein C deficiency. Genetic analysis of the PROC gene revealed two separate pathogenic mutations, confirming compound heterozygote status. Both parents were found to be heterozygous. While ocular manifestations (commonly haemorrhages) are often seen in protein C-deficient patients, a search of the literature reveals very few recorded cases of PFV in severe protein C deficiency. We hypothesise that protein C deficiency was the cause of PFV in this patient. Intraocular thrombotic events in utero could affect the normal development of ocular vessels and lead to persistent elements of fetal vasculature in the eye. Consideration should be given to the possibility of protein C deficiency in patients presenting with PFV, particularly if bilateral.

【 授权许可】

Unknown