This protocol covers retinal dystrophy of the retinitis pigmentosa type arising in the context of abetalipoproteinemia (Bassen-Kornzweig syndrome) — characterised by defective synthesis of apoprotein B, total absence of beta (low-density) lipoprotein in plasma, and acanthocytosis.
Abetalipoproteinemia is a rare inherited disorder in which defective apoprotein B synthesis results in the complete absence of plasma LDL. Fat malabsorption and acanthocytosis are present from birth. Ataxia, peripheral sensory and motor neuropathy, and retinal dystrophy typically emerge toward the end of the first decade of life.
The established first-line approach centres on long-term oral supplementation with fat-soluble vitamins, targeting the chronic deficiency that underlies both the neurological deterioration and the retinal dystrophy.
Stabilisation with no progression of the pigmentary retinopathy, and reversion of the electroretinogram (ERG) and electrooculogram (EOG) to normal.
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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