Background: Congenital cystic eye is a rare ocular and orbital malformation describing an intraorbital cavity lined by neuroglial tissue. Clinical and histopathologic findings of a 3-year-old boy with a congenital cystic eye are presented.
Methods: A 4-year-old otherwise healthy boy with anophthalmia of the right eye was referred because of progressive volume enlargement of his congenital cystic lesion of the right orbit. Imaging techniques revealed a hyperintense cystic tumor with calcifications of the wall. There was no evidence of a globe, no communication to the intracranial space and a normal bony orbit. The mass was excised and a 20-mm silicone orbital implant inserted.
Results: Microscopic examination of the cyst revealed irregularly shaped layers of fibrovascular tissue lined by neuroglial tissue with calcified bodies and positive immunohistochemical staining for glial fibrillary acid protein (GFAP), neuron-specific enolase (NSE) and neurofilament protein (NF). No structures like cornea, lens, retinal pigmented epithelium or rosettes were identified.
Conclusions: Congenital cystic eye is a primary developmental abnormality of the globe caused by an invaginational arrest of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development. The luminal neuroglial tissue contains dystrophic calcified bodies and degenerated primitive nerve fibers. The enlargement of the cyst may be due to fluid produced by glial tissue. The differential diagnoses for cystic anomalies without epithelial lining include microphthalmia with cyst, microphthalmia with cystic teratoma, ectopic brain tissue and meningoencephalocele.