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

PURPOSE: To describe a case of spontaneous central retinal artery occlusion in a young man with hemoglobin sickle cell disease.METHOD: Case report.RESULTS: A 31-year-old African-American man with a history of hemoglobin SC (sickle C) disease developed sudden painless loss of vision in the right eye. Medical history was remarkable for the recent history of a mild sickle crisis, but no other systemic illness or contributing factors. Central retinal artery occlusion was diagnosed with retinal whitening, cherry red spot, and delayed arteriovenous transit on fluorescein angiography. Over the ensuing week, the patient had visual recovery to 20/60 in the absence of therapeutic intervention.CONCLUSION: Central retinal artery occlusion has been reported in sickle cell hemoglobinopathies (ie, SS, S-thal, sickle trait, and SC), but the association with double heterozygous SC disease is rare. Most reports have described additional contributing factors, such as trauma or concomitant systemic illness, to help account for the central retinal artery occlusion. The present case suggests that SC disease alone is sufficient for the development of central retinal artery occlusion.
 ...
PMID:Correction-spontaneous central retinal artery occlusion in hemoglobin SC disease(1) 1112 34