Anophthalmia

Case contributed by Monica Morales Monzón
Diagnosis certain

Presentation

Physical examination revealed anomalies in the formation of both eyes.

Patient Data

Age: 1 month
Gender: Male
ct

There is bilateral absence of both eyeballs, replaced by amorphous soft tissue, associated with marked hypoplasia of both optic nerves as well as mild hypoplasia of the superior rectus muscles. Otherwise, the orbital content is essentially normal, showing the four rectus muscles. The bone distribution of the orbits is normal. The ventricular system, cerebral, and posterior fossa structures are of normal size and configuration for age.

Case Discussion

Congenital anophthalmia is a malformation that can be unilateral or bilateral; it is valued as a total absence of one or both eyeballs. It results from a failure of development of the anterior neural tube between the fourth and seventh weeks of gestation.

A male patient presents at one month old, healthy, with the only congenital defect being bilateral anophthalmia. He attended the Oculoplasty consultation referred from his health area to assess the presence of ocular tissue and the placement of ocular prostheses.

Tomography revealed bilateral absence of both eyeballs, replaced by amorphous soft tissue, associated with marked hypoplasia of both optic nerves as well as mild hypoplasia of the superior rectus muscles. Otherwise, the orbital content is essentially normal. The bone distribution of the orbits is normal. Normal intracranial structures.

Authors: Dr. Erick Gramajo M.Sc., Radiologist; Dr. Mónica Morales Monzón MD, radiology resident.

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