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 5-year-old Mexican-American boy developed marked elevation of intraocular pressure in association with a small traumatic hyphema. Laboratory studies prompted by this clinical presentation revealed that the child had sickle trait. Pressure returned to normal after surgical evacuation of blood from the anterior chamber. Sickle cell hemoglobinopathy should be considered in the differential diagnosis of secondary glaucoma following blunt ocular trauma even in non-black patients.
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PMID:Sickle cell hyphema with secondary glaucoma in a non-black patient. 399 Nov 13

The records of 27 patients who developed retinal arterial obstruction (RAO) prior to the age of 30 years were studied to ascertain associated systemic and ocular findings as possible etiologic factors. A history of migraine was found in approximately one third of the patients, and coagulation abnormalities wer also common. Trauma, sickle cell hemoglobinopathies, cardiac disorders, use of oral contraceptives, pregnancy, systemic lupus erythematosus and intravenous drug abuse were less frequently encountered. Ocular abnormalities included increased intraocular pressure, subtle buried drusen of the optic nerve head and a congenital prepapillary arterial loop. In contrast to older patients with RAO, there was no clinical evidence of atheromatous disease. In most patients, one or more systemic or ocular etiologic factors could be discerned. Whereas etiologic relationships may be multifactorial and generally differ from those commonly found in older patients with RAO, the visual prognosis in younger and older patients appears to be similar.
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PMID:Retinal arterial obstruction in children and young adults. 724 24

During the past year, there has been increased understanding of the ocular manifestations of various cardiovascular and hematologic disorders. Carotid and vertebral artery lesions may lead to significant and varied ophthalmic pathology. Disorders of blood pressure may influence the intraocular pressure and play a role in the progression of glaucoma. Cardiovascular risk factors such as smoking, hyperlipidemia, hypertension, and diabetes mellitus, may also play a role in the development of anterior ischemic optic neuropathy. Several cardiac anomalies as well as the cardiac use of streptokinase have been reported to have secondary ocular involvement. Both benign and malignant hematologic disorders may result in serious ocular morbidity. Recent publications have focused on the secondary ophthalmic complications from the hemoglobinopathies, problems with blood viscosity, the lymphomas, the leukemias, and bone marrow transplantation.
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PMID:Ocular manifestations of cardiovascular and hematologic disorders. 1016 Apr 27