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 33-year-old black woman with hemoglobin SC disease and a history of photocoagulation for peripherally located retinal neovascularization had a neovascular frond at the temporal border of her right macula. Multiple zones of black sunburst hyperpigmentation were located nearby. Fluorescein angiography showed that the lesions were closely related to an extensive zone of avascular retina in the posterior pole. The perifoveal vasculature was uninvolved, and the patient was unaware of any visual deficit. Although sickle cell maculopathy is a well-recognized entity, there have been no published reports, to the best of our knowledge, of posterior pole neovascularization in patients with sickle cell hemoglobinopathy. The fluorescein angiographic findings in our case provide further support for the hypothesis that retinal hypoxia is an important stimulus for retinal neovascularization.
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PMID:Posterior pole neovascularization in a patient with hemoglobin SC disease. 9 99

Nine cases of a newly recognized, probably not uncommon, anomaly of the retinal pigment epithelium have been observed over a four-year period. The lesions occur predominantly in black subjects. Some degree of hemoglobinopathy was present in all the black patients with geographic dark posterior fundus patches. Almost all of the patients were young (6 to 26 years old) but two were 50 years of age. In three patients the patches grew larger. They did not interfere with vision or visual fields and did not appear to be involved with vitreous abnormalities. Fluorescein angiography was normal. In three patients, an electroretinogram gave subnormal results to all stimulus intensities; it was normal in one patient.
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PMID:Geographic dark posterior fundus patches. 86 86

Sickle hemoglobinopathies are frequent in black population. Double heterozygous SC gives less general symptoms but ocular complications are very common. Fluorescein angiography of 20 cases are reported. All the patients had hemoglobin electrophoresis showing double heterozygous SC. Clinical investigations included fundus examination and fluorescein angiography. Laser treatment or cryotherapy were realised regarding lesions features. Vascular retinal complications were found in 75% of cases, including vitreous hemorrhage (10% of cases). There was no correlation between fundus examination and fluorescein angiography. Fluorescein angiography is useful for early diagnosis and allows preventive laser treatment.
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PMID:[Vitreo-retinal complications of hemoglobinopathy SC]. 982 49

Sickle cell disease is the most common and severe hemoglobinopathy. Ocular complications are related to ischemic retinopathy. Retinal examination has to be done in homozygous or double heterozygous patients and when the sickle trait is present with additional systemic vascular conditions. Fluorescein angiography is the main investigation. Photocoagulation to ischemic areas is effective in achieving regression of neovascularization. Various measures to reduce ischemia are recommended for surgical procedure. Multidisciplinary teams should take on severe cases.
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PMID:[Retinal involvement in hemoglobinopathy]. 1191 46

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