Presentation
Left mastoiditis for follow up. Known congenital blindness.
Patient Data
There is minimal residual left mastoid opacification and a tiny air-fluid level consistent with referral history. There is mild sclerosis of the left mastoid antrum with reduced aeration in comparison to asymptomatic right mastoid antrum. The temporal bones are otherwise normal bilaterally.
Incidental findings:
Absent lenses bilaterally consistent with known congenital blindness.
Right optic disc drusen.
Prominent left ICA, A1 and M1 junction, however no aneurysmal dilatation.
Mucous retention cyst right maxillary antrum and minimal left maxillary antral mucosal thickening.
Punctate prefrontal dermal calcifications.
Case Discussion
Aphakia refers to the absence of the lens from the ocular globe. It may be congenital (genetic), post-traumatic (penetrating trauma/lens dislocation or subluxation) or iatrogenic (removal of a cataract). It may be unilateral (monocular) or bilateral (binocular). Anomalies in the FOXE3 gene have been recognized in families with aphakia.
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