A-β-lipoproteinaemia with special reference to the visual defect

Abstract

A- β -lipoproteinaemia is a rare metabolic disorder which is inherited as a Mendelian recessive. The main features are steatorrhoea and acanthocytosis, which are already present in early infancy, and a progressive ataxic neuropathy and an atypical retinitis pigmentosa, which develop later in childhood. As β -lipoprotein is absent from the serum, carotenoids are also absent and serum vitamin A levels are low. Although normal serum vitamin A levels can be maintained by treatment with a water-miscible preparation of vitamin A, the development of retinal degeneration is not thereby prevented.