Microphthalmia essentially means small eyes. It is characterized by a small eye within a small orbit. It can be unilateral or bilateral. It is sometimes defined as a globe with a total axial length (TAL) that is at least two standard deviations below the mean for age.
Microphthalmia can have a complex etiology and genetics.
Microphthalmia can either occur isolation in association or with numerous other conditions which include
- aneupliodic syndromic
- non aneupliodic syndromic
- non aneuploidic non syndromic
Assessment and detection of microphthalmia antenatally is difficult and is often inferred from a small size of the orbit. There may or may not be evidence of concurrent hypotelorism.
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