This rare birth defect is passed down through families (inherited) and almost exclusively affects males. It's characterized by microphthalmia plus malformations of other parts of the body, such as eyelids (blepharoptosis), skull (microcephaly), spine (scoliosis) or fingers (clinodactyly).

How is microphthalmia inherited?

Isolated microphthalmia is sometimes inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

What is the cause of microphthalmia?

The causes of anophthalmia and microphthalmia among most infants are unknown. Some babies have anophthalmia or microphthalmia because of a change in their genes or chromosomes. Anophthalmia and microphthalmia can also be caused by taking certain medicines, like isotretinoin (Accutane®) or thalidomide, during pregnancy.