Microphthalmia

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 that is at least two standard deviations below the mean for age.

Pathology

Microphthalmia can have a complex etiology and genetics.

Associations

Microphthalmia can either occur isolation in association or with numerous other conditions which include

• aneuploidic syndromic
  • triploidy
  • trisomy 13
• non-aneuploidic syndromic
  • Aicardi syndrome
  • fetal alcohol syndrome
  • Fraser syndrome
  • Fryns syndrome
  • Goldenhar syndrome
  • Gorlin syndrome
  • Lenz syndrome
  • microphthalmia microcephaly syndrome
  • Pierre Robin syndrome
  • Treacher Collins syndrome
• non-aneuploidic non-syndromic
  • holoprosencephaly spectrum
  • in utero infection
  • persistent hyperplastic primary vitreous (PHPV)

Radiographic assessment

Antenatal ultrasound

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.

See also

• anophthalmia