Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease

• Published in: International ophthalmology Vol. 38; no. 2; pp. 771 - 773
• Main Authors: Ersoz, M. Giray, Ture, Gamze
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.04.2018; Springer Nature B.V
• Subjects: Angiography; Case Report; Child; Children; Ciliary Arteries - pathology; Ciliary Body - blood supply; Fabry Disease - complications; Fabry's disease; Female; Fluorescein; Galactosidase; Humans; Ischemia; Medicine; Medicine & Public Health; Occlusion; Ophthalmology; Optic Nerve - blood supply; Optic neuropathy; Optic Neuropathy, Ischemic - etiology; Retina; Retinal Artery Occlusion - etiology; Veins & arteries; Fabry disease; Female carrier; Anterior ischemic optic neuropathy; Cilioretinal artery occlusion
• ISSN: 0165-5701; 1573-2630
• DOI: 10.1007/s10792-017-0495-5

Purpose To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION). Methods Case report. Results An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluorescein angiography revealed cilioretinal artery occlusion and AION. Systemic evaluations were unremarkable, except for a low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450–2000 pmol/spot*20 h). The patient was diagnosed with female carrier of Fabry disease. Conclusion Retinal vascular occlusions are rare in childhood, and Fabry disease may present with retinal vascular occlusion. Ophthalmological examinations may be contributing for early detection of the disease. To the best of our knowledge, this is the first report of a child female carrier of Fabry disease, complicated by cilioretinal artery occlusion and AION.