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)

A 21-year-old black man with hemoglobin SC disease had a unilateral exudative retinal detachment. A large area of sea fan neovascularization was identified in this eye at the superotemporal border of the detachment; no retinal holes were present. Following closure of the neovascularization by argon laser photocoagulation using feeder vessel technique, the retina flattened and the exudation cleared. However, multiple holes developed in thin ischemic retina at foci of vitreoretinal traction. Although many retinal vascular diseases may cause exudative detachments, to the authors' knowledge, this is the first definite case of exudative retinal detachment in a patient with a sickling hemoglobinopathy.
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PMID:Exudative retinal detachment in hemoglobin SC disease. 618 70

To report the rare and dramatic event of bilateral macular infarction in a sickle cell hemoglobinopathy (SS genotype) patient, resulting in bilateral severe reduction in visual acuity. Without any intervention, the patient's vision gradually improved over the follow-up period. Central visual field defects however persisted. A 21-year-old male Nigerian, presented with a 1-week history of bilateral sudden painless loss of vision. His symptom was associated with fever, feeling of heaviness in the chest and head, and a dizzy spell. Visual acuity was reduced to 20/200 in both eyes and near acuity was; right eye: N24, left eye: N36. Funduscopy showed a pale, milky white, thickened retinal patch superotemporal to the fovea in both eyes. Fluorescein Angiograph: revealed features consistent with occlusion of the parafoveal terminal arterioles in both eyes. Although he did not receive any ocular treatment, and exchange blood transfusion was not done, he regained near-normal visual acuity in both eyes over a 17-month follow-up period, central visual field defects persisted in both eyes. Visual recovery in this patient demonstrates that macular function could improve over time following macular ischemia, without any treatment. Patients and caring physicians should be aware of this possibility.
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PMID:Bilateral simultaneous macular infarction with spontaneous visual recovery in genotype ss hemoglobinopathy patient. 2937 2