---
title: Abetalipoproteinemia
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/abetalipoproteinemia/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Abetalipoproteinemia

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