A case of human vitamin A deficiency caused by an inherited defect in retinol-binding protein without clinical symptoms except night blindness.
Two German siblings were found to suffer from night blindness and mild retinal dystrophy but no other clinical symptoms of vitamin A deficiency. Even though they had no detectable plasma retinal-binding protein (RBP) and their plasma retinol was exceedingly low, they showed normal physiologic functions and growth. Their RBP gene was found to harbor two point mutations. Their post-prandial plasma levels of retinyl esters were normal, and it is likely that they derived their tissue retinol from retinyl esters.
Wolf
G
G
Department of Nutritional Sciences, University of California, Berkeley 94720-3104, USA.
D000222:Adaptation, Physiological; D000293:Adolescent; D000483:Alleles; D005260:Female; D006801:Humans; D009755:Night Blindness / Q000209:etiology*; D017354:Point Mutation; D012177:Retinol-Binding Proteins / Q000235:genetics*; D054839:Retinol-Binding Proteins, Plasma; D014802:Vitamin A Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*
D012177:Retinol-Binding Proteins; D054839:Retinol-Binding Proteins, Plasma