علاج التهاب الشبكية الصباغي في ابيتاليبوبروتينيميا (متلازمة باسن-كورنزفايغ)

References

DOI: 10.1016/0039-6257(88)90085-9

Abetalipoproteinemia, first described by Bassen and Kornzweig, is a rare disorder in which there is defective synthesis of apoprotein B and total absence of beta (low-density) lipoprotein in the plasma of affected individuals.

In the absence of apoprotein B there is fat malabsorption and abnormality of red cell shape (acanthocytosis) from birth.

Ataxia, peripheral sensory and motor neuropathy, and retinal dystrophy tend to appear at the end of the first decade, although occasionally the neurologic findings may be the presenting signs.

It appears that chronic deficiency of fat soluble vitamins plays a role in the etiology of the neurologic degeneration and retinal dystrophy in this disorder and that combined treatment with vitamins A and E is synergistic.

In patients treated with vitamin E after the onset of neuropathy and retinopathy there has been stabilization of the neuropathy, no progression of the pigmentary retinopathy and reversion of the ERG and EOG to normal.

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