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مقاله
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Abstract
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Title:
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Retinal vasculopathy in Job s' syndrome; a case report
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Author(s):
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Mohsen Farvardin, Mohammad Hassan Jalalpour, Golnoush Sadat Mahmoudi Nezhad, Adel Attar Zadeh, Soheila Al-Yaseen
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Presentation Type:
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Poster
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Subject:
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Posterior Segment and Uveitis
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Others:
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Presenting Author:
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Name:
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Mohammad hassan Jalalpour
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Affiliation :(optional)
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1. Poostchi Ophthalmology Research Center,Department of Ophthalmology,Shiraz Universtiy of Medical Sciences , Shiraz, Iran
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E mail:
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mhjalalpour@gmail.com
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Phone:
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Mobile:
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09177810025
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Purpose:
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To report a case report of retinal vasculopathy in HyperimmunglobolinE syndrome.
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Methods:
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Case report
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Results:
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A 10 year old boy known case of hyperimmunoglobulin E syndrome (HIES) referred to ophthalmology emergency room due to decreased in visual acuities and bilateral dilated fix pupils. In ophthalmic physical examination visual acuities were 1/10 in right eye (OS) and 5/10 in left eye (OD). Slit lamp examination of both eye revealed sever meibomian gland dysfunction (MGD), blepharitis and fixed dilated pupil of both eyes. fundoscopic examination revealed peripheral retinal hemorrhage , vascular sheathing around retinal artery and vein and vascular occlusion in right eye and peripheral retinal hemorrhage and vascular sheathing around retinal artery and vein and vascular occlusion in left eye. genetic study confirmed mutation in DOCK 8 that is related to vasculopathy in HIES.
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Conclusion:
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This is the first case report of retinal occlusive vasculitis in HIES in literature. Our patient was diagnosed as Autosomal recessive HIES with DOCK8 mutation that is associated with wide spectrum of vascular abnormalities that is due to
partial T-cell deficiency that is result to dysregulation of immune system and leading to lymphoma and CNS and systemic vasculitis.
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Attachment:
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5384HIES.pptx
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