Anophthalmia and Microphthalmia

1 Signs and Symptoms

Small or missing eye with associated small appearing orbit. This may be unilateral or bilateral. Facial asymmetry may be present due to poor facial growth [1,2,3].

2 Differential Diagnosis

Persistent hyperplastic primary vitreous, phthisis bulbi, a socket post-enucleation (acquired clinical anophthalmos).

3 Diagnosis

The presence of a small appearing eye (or eyes) with a corneal diameter under 10 mm and an axial length under 20 mm. The absence of an eye confirms the diagnosis of clinical anophthalmos; however, a small microphthalmic eye is often revealed on imaging.

4 Treatment

Early intervention to expand the orbit is needed to allow for proper orbital and facial growth. This can be accomplished via serial prosthetic conformers or with osmotic expanders. Ultimately, an ocular implant may be placed, such as a dermis fat graft.

5 Figures with Captions

Fig. 1

Axial T2-weighted MRI of a 3-year-old with bilateral anophthalmia. The orbits are somewhat narrow with...