Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present the first case of central retinal artery occlusion (CRAO) resulting from moyamoya syndrome secondary to Southampton hemoglobinopathy. A 12-year-old Hispanic girl with a history of Southampton hemoglobinopathy with moyamoya syndrome presented with amaurosis fugax in her left eye that resolved within hours except for an inferior paracentral scotoma. She had left ophthalmic artery occlusion on magnetic resonance angiogram. Seven months later, spectral-domain optical coherence tomography showed diffuse inner retinal thinning. She was diagnosed with transient CRAO. The authors conclude that CRAO can result from moyamoya syndrome secondary to an underlying hemoglobinopathy. Multimodal imaging demonstrated residual inner retinal injury despite reperfusion. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e166-e170.].
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PMID:CRAO in Moyamoya Syndrome Associated With Southampton Hemoglobinopathy. 3110 Jan 71