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.
A 36-year-old man with his 11-year-old son presented with ocular surface irritation symptoms and blurred vision since early childhood, on exam visual acuity of the man was 5/10(OD), 4/10(OS) and his son was 6/10(OD), 5/10(OS), other exams of these patients were similar: eyelid examination showed absence of meibomian gland orifices, after application of fluorescein dye there was a thin tear film layer and diffuse punctuate epithelial erosions on the cornea, remaining exams were unremarkable.
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