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Ophthalmic Manifestations of Congenital Protein C Deficiency: A Case Report and Mini Review Publisher Pubmed



Ghassemi F1, 2, 3 ; Abdi F1, 4 ; Esfahani M1
Authors
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Authors Affiliations
  1. 1. Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Qazvin Square, Tehran, IR, Iran
  2. 2. Retina and Vitreous Service, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, IR, Iran
  3. 3. Department of Ophthalmology, Farabi Hospital Medical University Hospital, Tehran University of Medical Sciences, Tehran, IR, Iran
  4. 4. Department of Ophthalmology, Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, IR, Iran

Source: BMC Ophthalmology Published:2020


Abstract

Background: Homozygous protein C (PC) deficiency is a potentially fatal disease with ocular blinding presentation or sequela. Case presentation: A 5 month-old boy was presented for evaluation of leukocoria. He had a history of frequent bruises and PC deficiency, treated with warfarin. His intraocular pressure was normal. In the left eye leukoma with anterior segment dysgenesis, shallow anterior chamber, and cataract were observed. Fundus was not visible. B-scan revealed a closed funnel retinal detachment. His right eye had a normal anterior segment and a thin retina with anomalous retinal vascular branching at equator and peripheral retina. A fibrovascular tuft on the optic nerve head with induced traction on superior arcade was visible. Total loss of a and b wave of both were appreciated in electroretinography (ERG). Fluorescein angiography (FA) showed very severe leakage at the junction of the vascularized and non-vascularized retina and optic nerve head. Favorable outcome was achieved with lasering of avascular retina in the right eye. Conclusion: The potential for protein C deficiency should be assessed in all infants with leukocoria, anterior segment dysgenesis, retinal detachment and retinal dysplasia. Early diagnosis could save the child's life and vision. © 2020 The Author(s).