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)

Angioid streaks are asymptomatic breaks in Bruch's membrane developing later in life. Secondary macular degeneration and other fundus abnormalities often accompany their development. Angioid streaks are frequently associated with systemic diseases such as pseudoxanthoma elasticum, Paget's disease of bone, and the sickle cell hemoglobinopathies. The clinical manifestations of angioid streaks, related fundus changes, and these three systemic disorders are discussed as well as principles of treatment and management. Two case reports are presented which illustrate some of the important characteristics of angioid streaks.
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PMID:Diagnosis and management of angioid streaks. 318 86

Angioid streaks are often associated with a systemic condition, most frequently pseudoxanthoma elasticum, Paget's disease of the bone, or one of the sickle hemoglobinopathies. The clinical manifestations of angioid streaks and those three systemic conditions are reviewed. A diagnostic survey is suggested for patients discovered to have angioid streaks with no known systemic disease. The results of such a survey in 50 patients are presented. In addition, separate studies of patients with Paget's disease of the bone (50 patients) and of the sickle hemoglobinopathies (100 patients) are described, and the characteristics of patients with angioid streaks as well as the incidence of streaks in these conditions is reviewed. The histopathologic and fluorescein angiographic characteristics of angioid streaks, as well as the possible benefit of photocoagulation for complications of angioid streaks is discussed.
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PMID:Angioid streaks. 704 15

Angioid streaks were observed in two patients with abetalipoproteinemia. The progression of the angioid streaks was minimal over the years that these patients received vitamin A and E supplementation, though in one patient the development of subretinal neovascular membranes within the angioid streaks was the cause of rapid central visual loss. The simultaneous appearance of two rare entities in unrelated individuals strengthens the relationship between these two disorders that has been suggested by previous case studies. The authors propose a common metabolic pathway involving trace element deficiencies that may account for this relationship as well as the association of angioid streaks with other rare disorders such as Paget's disease, hypoparathyroidism, lead poisoning, hyperphosphatemia, and a number of hemoglobinopathies. Their study of these two patients underscores the need for further investigations as to the role of copper, zinc and omega-3 fatty acids in the pathogenesis of retinopathy in abetalipoproteinemia.
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PMID:Angioid streaks associated with abetalipoproteinemia. 774 70

Angioid streaks have been described in a diverse group of diseases including hemoglobinopathies such as sickle cell anemia and beta-thalassemia. We investigated the prevalence of angioid streaks and pseudoxanthoma elasticum in the rare situation of patients who had compound heterozygous traits for hemoglobin S and beta-thalassemia. We examined 58 consecutive patients with sickle-thalassemia. Of these, 25 were men and 33 were women, and they ranged in age from 19 to 58 years (mean, 32.6 years). Angioid streaks were identified in six of 58 patients (10%), and of these three also displayed the cutaneous lesions of pseudoxanthoma elasticum, which were confirmed by skin biopsy. An expanded study on several relatives of the patients with angioid streaks failed to identify any similar cases. Statistical evaluation of the main hematologic and biochemical parameters in the patients with and without angioid streaks did not demonstrate any significant differences, except that the thalassemic component in all six patients with angioid streaks was beta(0) (that is, did not allow the synthesis of hemoglobin A). We conclude that angioid streaks and pseudoxanthoma elasticum skin lesions occur with an increased frequency in patients with sickle-thalassemia.
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PMID:Angioid streaks in sickle-thalassemia. 817 64

It is estimated that approximately 2 percent of African-Americans possess one gene for C hemoglobin. This is usually demonstrated on hemoglobin electrophoresis. Hemoglobin C trait (AC hemoglobinopathy) is considered a clinically benign condition; there are no characteristic physical abnormalities. Angioid streaks in the ocular fundus represent a progressive, bilateral, degenerative disorder characterized by breaks in Bruch's membrane. The pathogenesis of angioid streaks in the hemoglobinopathies is thought to be linked to iron deposition in Bruch's membrane. This report describes what is believed to be the first reported case of angioid streaks associated with hemoglobin C trait.
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PMID:Angioid streaks and AC hemoglobinopathy--a newly discovered association. 831

Angioid streaks were first described by Doyne in 1889. Since that time histopathology and diagnostic methods have been greatly improved. Angioid streaks of the fundus are not apparent at birth. The earliest form is known as "peau d'orange". The end stage is disciform macular degeneration, helicoid peripapillary atrophy or diffuse choroidal sclerosis. Moreover, macular hemorrhage and precipitation of angioid streaks have frequently been noted after trauma. Angioid streaks have been described in a diverse group of diseases including pseudoxanthoma elasticum, Paget's disease, hemoglobinopathies such as sickle cell anemia and beta-thalassemia.
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PMID:[Angioid streaks. Pathogenesis and the clinical picture]. 883 55

An acquired diffuse elastic tissue defect that resembles inherited pseudoxanthoma elasticum (PXE) has been noticed with a significant age-related frequency in hemoglobin disorders, especially beta-thalassemia and has been held responsible for a number of complications observed in these cases, some of which are quite severe. We report here two patients with beta-thalassemia intermedia, who presented with severe visual acuity impairment associated with angioid streaks, the typical ocular manifestation of PXE.
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PMID:Loss of vision associated with angioid streaks in beta-thalassemia intermedia. 1822 11

In patients with angioid streaks, additional investigations are useful to identify underlying systemic disease, unless age and short peripapillary streaks are indicative of senile streaks as an isolated abnormality. In middle-aged or young adults with angioid streaks and no obvious systemic disease, the possibility of a hemoglobulinopathy or pseudoxanthoma elasticum (PXE) as etiologic entities should be investigated. Hemoglobinopathies can be excluded based on blood screening and the absence of typical ocular fundus changes, such as retinal vessel tortuosity. This allows making a presumed clinical diagnosis of PXE in patients with angioid streaks, based on exclusion of a hemoglobinopathy, and on the presence of extensive angioid streaks, peau d'orange, crystalline bodies and comet tail lesions. For confirmation of PXE, the gold standard was dermatologic examination and skin biopsy, but since the last decade molecular diagnosis is available. In rare cases, PXE can be diagnosed using molecular techniques in patients with apparently normal skin and negative skin biopsies, as demonstrated in this case and another case published in 2011.
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PMID:Pseudoxanthoma elasticum confirmed by genetic analysis but not by skin biopsy: a case report and review of the literature. 2492 87