Anophthalmos Workup

Updated: Aug 06, 2021
  • Author: Nick Mamalis, MD; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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Imaging Studies

Imaging studies in anophthalmos are as follows. [25]

CT scan or MRI

CT scan or MRI of the head and the orbits is used to assess the presence of an extremely microphthalmic globe.

Bilateral anophthalmos may have an associated absence of the optic chiasma, a diminished size of the posterior pathways, as well as agenesis or dysgenesis of the corpus callosum. [25]

Patients with unilateral anophthalmos may have severe craniofacial anomalies that need to be evaluated by scanning.

Ultrasound imaging

B-scan ultrasound will show a complete absence of ocular tissue in anophthalmos.

A-scan ultrasound will show a decreased axial length in microphthalmos.

Transvaginal ultrasound can detect eye malformations after 22 weeks’ gestation; however, its sensitivity for use in the detection of anophthalmia is not known.


Histologic Findings

Primary anophthalmos is characterized by a complete absence of ocular tissue within the orbit. Extreme microphthalmos is seen more commonly. Histopathological evaluation of orbital contents reveals an extremely small or malformed globe with only rudimentary ocular contents. Overall, extraocular muscles often are absent or markedly decreased in anophthalmia.