Microphtalmia

Microphthalmia belongs to a group of congenital eye malformations. An amino acid deletion in the retinol-binding protein 4 (RBP4) can cause of the disease. Normal RBP4 carries vitamin A from hepatic stores to peripheral tissues, like the placenta and eye. It is used as substrate for synthesis of retinoic acid, an important molecule for tissue development. The eye is most sensitive to impaired synthesis of retinoic acid and vitamin A deficiency is a known risk factor for ocular birth defect.