Blindness due to angioid streaks in congenital dyserythropoietic anaemia type I
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چکیده
منابع مشابه
Congenital dyserythropoietic anaemia type II (HEMPAS): a family study.
A family having two affected siblings with congenital dyserythropoietic anaemia type II (HEMPAS) is described. The proband was diagnosed after referral for investigation of haemolytic anaemia. Clinical evaluation and in vivo red cell (RBC) survival and the sequestration studies in the proband indicated that the anaemia was due to a combination of ineffective erythropoiesis and premature destruc...
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Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elastic tissues of skin, eyes and blood vessels. Its estimated prevalence is thought to be 1:25,000 100,000. PXE patients also carry an increased risk for cardiovascular and gastrointestinal diseases. Early diagnosis can play a crucial role in preventing early loss of vision and systemic complications in these pa...
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A case of congenital dyserythropoietic anaemia with erythroblastic multinuclearity in a 36-year-old woman is described and the literature reviewed. The syndrome is characterized by a protracted clinical course, a relatively mild anaemia, a low reticulocyte count, slight hyperbilirubinaemia, splenomegaly, pronounced erythroid hyperplasia with reversal of the myeloid erythroid ratio, and in parti...
متن کاملAngioid streaks and elastorrhexis.
ANGIOID streaks are thought to be due to breaks in the elastic lamina of Bruch's membrane. Ophthalmoscopically they present a jagged peripapillary ring which may be incomplete and from which radiate irregular spokes of width similar to retinal vessels. With time, they may progress, or become less distinct. Their colour varies from reddish-brown to dark brown according to the density of the over...
متن کاملCongenital dyserythropoietic anaemia with unusual cytoplasmic inclusions.
A case of congenital dyserythropoietic anaemia is described which appears to be at variance with the accepted classification. The morphological findings are of normoblastic hyperplasia with marked cytoplasmic vacuolation. Electron microscopy shows these to be myelin figures in all stages of erythroid differentiation.
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2006
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2006.06101.x