Cases reported "Abetalipoproteinemia"

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1/3. angioid streaks associated with abetalipoproteinemia.

    angioid streaks were observed in a 31-year-old man with abetalipoproteinemia. angioid streaks have now been described in hereditary spherocytosis, beta thalassemia, alpha thalassemia, sickle cell anemia, and acanthocytosis secondary to abetalipoproteinemia and hypobetalipoproteinemia. The nature of the association of angioid streaks and structural defects of hemoglobin and the red blood cell is not understood.
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ranking = 1
keywords = angioid streak, angioid, streak
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2/3. Oral vitamin e supplements can prevent the retinopathy of abetalipoproteinaemia.

    Six patients with abetalipoproteinaemia are described who received large doses of oral vitamin e for between 12 and 18 years in addition to a low fat diet and supplements of the other fat soluble vitamins. The progressive retinopathy observed in untreated abetalipoproteinaemia was substantially modified and most probably prevented by this therapy. angioid streaks were noted in one patient. Treatment with vitamin a alone did not prevent or arrest the progression of the retinal lesion.
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ranking = 0.011065965898389
keywords = streak
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3/3. angioid streaks associated with abetalipoproteinemia.

    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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ranking = 2.8561424433209
keywords = angioid streak, angioid, streak
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