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)

Hemoglobin S/O<sub>Arab</sub> (Hgb S/O<sub>Arab</sub>) disease is a rare hemoglobinopathy which presents similarly to sickle cell retinopathy, with only three prior reports that describe associated retinal findings. In this report, we present ophthalmic examination findings in 2 patients with Hgb S/O<sub>Arab</sub>. One patient exhibited peripheral ischemia and sunburst lesions without neovascular disease, and the other patient developed proliferative retinopathy of both eyes and multiple posterior-pole branch retinal artery occlusions in one eye. To our knowledge, this is the first case of retinal arterial occlusive disease in Hgb S/O<sub>Arab</sub>, and the first report of fundus autofluorescence and OCT angiography in Hgb/O<sub>Arab</sub> retinopathy.
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PMID:Hemoglobin S/OArab: Retinal Manifestations of a Rare Hemoglobinopathy. 3259 82