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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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.[1]


  1. Angioid streaks associated with abetalipoproteinemia. Gorin, M.B., Paul, T.O., Rader, D.J. Ophthalmic Genet. (1994) [Pubmed]
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