Congenital cystic eye with intracranial anomalies: a clinicopathologic study

To describe clinical, imaging and histopathologic findings of congenital cystic eyes associated with intracranial malformations.

Retrospective, noncomparative, interventional, clinicopathologic case reports of two female children (ages 15 days and six months) who were found to have non-discernable eye globes at birth. The patients underwent complete clinical examination, imaging studies, surgical exploration and histopathological evaluation of the excised orbital cystic structures.

The fellow socket in one patient was found to be anophthalmic and the fellow eye in the second patient was highly myopic. Clinical, imaging [ultrasonography, computerized tomography (CT) scan and magnetic resonance imaging (MRI)], and histopathologic evaluations were consistent with the diagnosis of congenital cystic eye in both cases. Intracranial abnormalities were found in both patients, requiring ventroperitoneal shunting. Orbital cysts in both patients were excised and no recognizable eye structures were identified at the time of surgery. Histopathologic study in each case revealed a cyst externally surrounded by dense fibrous connective tissue with the inner aspect of the cyst lined by primitive neuroglial tissue in one case and immature and dysplastic retinal elements in the other. No recognizable ocular structures or microphthalmos were identified in either case. Immunohistochemical staining for glial fibrillary acidic protein, neuron-specific enolase and neurofilament protein were positive without evidence of normal elements of cornea, lens, ciliary body, choroid or retina.

Congenital cystic eye should be suspected in patients with an unrecognizable eye globe and the possible association with intracranial malformation investigated. Early recognition of the association may help in the diagnosis and treatment of anophthalmic socket and intracranial anomalies.