Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease
| Autor: | Gamze Ture, M Giray Ersoz |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Retinal Artery Occlusion Ciliary Arteries 03 medical and health sciences 0302 clinical medicine 0502 economics and business medicine Humans Optic Neuropathy Ischemic Child business.industry Ciliary Body 05 social sciences Optic Nerve medicine.disease Fabry disease Surgery Ophthalmology Cilioretinal artery occlusion 030221 ophthalmology & optometry Fabry Disease Anterior ischemic optic neuropathy Female 050211 marketing Presentation (obstetrics) business |
| Zdroj: | International Ophthalmology. 38:771-773 |
| ISSN: | 1573-2630 0165-5701 |
| DOI: | 10.1007/s10792-017-0495-5 |
| Popis: | To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION).Case report.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.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. |
| Databáze: | OpenAIRE |
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