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Microphthalmia belongs to a group of congenital eye malformations.

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Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance


Year Published

General information

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.

Clinical features

Microphthalmia is characterised by a unilateral (one-sided) or bilateral (both-sided) reduction in eye size. Symptoms develop at a young age and will be visible shortly after opening of the eyes.

Additional information

It is an autosomal recessive trait, it is only expressed, when both dam and offspring are deletion homozygotes. Only if maternal and fetal RBP4 mutations are homozygous, the vitamin A level is reduced below the threshold for expression of the disease in the offspring.


Pubmed ID: 29847795

Omia ID: 2151

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