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Congenital anophthalmia


Key points

  • Definition: Congenital anophthalmia (CA) is a rare malformation causing unilateral, or bilateral eye absence.

  • Classic clue: Anophthalmia is discovered at delivery and frequently found by fetal ultrasound (US).

  • Anophthalmia is the medical term for absence of eyes coming from the Greek meaning “without eye.”

  • CA arises as a consequence of damage to developing eye(s) during first 8 weeks of fetal development. ,

Imaging

Computed tomography features

  • Computed tomography (CT) gives good bony detail. 3D reconstructions are favored by craniofacial surgeons (see Figure 27-1 , A and B ).

    FIGURE 27-1 ■, A, 3D CT reconstruction shows small left orbit secondary to CA with low median facial cleft syndrome. Broad nasal root with hypertelorism. B, Axial nonenhanced computed tomography (NECT) shows normal right orbit and malformed left orbit with absent left eye secondary to CA. Some residual disorganized tissue in anterior left orbit. Small left face and hemicranium. Agenesis of corpus callosum is one of the intracranial abnormalities associated with CA. C, Midline sagittal T1 MRI shows complete absence of corpus callosum with medial hemispheric sulci extending in “radial” fashion to III ventricle. D, Coronal T2 weighted image (WI) shows “Texas Longhorn” or “Viking” appearance of upturned lateral ventricles bordered medially by Probst bundles. Hippocampi are more vertical than usual. E, Axial T1 MRI shows interdigitating gyri between unusually positioned parallel lateral ventricles. F, Axial T1 MRI shows small widely separated frontal horns. Large occipital horns. High, prominent III ventricle. G, Coronal T1WI shows presence of EOMs in patient born with small orbits, but no globes or demonstrated ONs. H, Axial T2 shows small orbits with EOMs but no viable globes or ONs.

Magnetic resonance imaging features

  • Magnetic resonance imaging (MRI) is superior to CT in the delineation of intraorbital contents, including rudimentary optic nerve (ON) and tracts present in secondary CA.

  • May perform fetal MRI when US suggests fetal anomaly.

Ultrasound features

  • 3D fetal US helpful using “reverse face” view. ,

Clinical issues

  • CA and severe microphthalmia account for 2% or less of childhood blindness.

  • There are associated intracranial and facial abnormalities.

Treatment

  • Currently, focus is on cosmetic improvements provided by prosthetic specialists.

  • Cosmetic surgery may be performed after age 2 to expand the orbit.

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