Microphthalmia fetal ultrasound

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)

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.