Abetalipoproteinaemia is a rare inherited disorder of lipoprotein formation causing fat malabsorption and deficiency of fat-soluble vitamins. It leads to neurological problems and a characteristic retinopathy.
Ocular involvement
Vitamin A deficiency contributes to retinal degeneration.
- Progressive pigmentary retinopathy resembling retinitis pigmentosa
- Night blindness and peripheral field loss in childhood or adolescence
- Acanthocytosis and neurological signs such as ataxia accompany ocular symptoms
- Low serum lipoproteins and apolipoprotein B levels confirm diagnosis
Management
Early treatment may slow progression.
- High-dose supplementation with fat-soluble vitamins, particularly vitamin A and E
- Dietary modification with specialist dietetic advice
- Regular ophthalmic monitoring and low-vision support
- Neurological follow-up for coordination and balance problems
