Congenital cystic eye: Report of two cases and review of the literature

A 13-month-old boy and a 2-week-old girl, who were considered to be anophthalmic and who later each developed a cystic lesion in the left orbit with protrusion of the lower eyelid, were studied. The fellow eye in case 1 was subsequently found to be microphthalmic with cyst and was normal in case 2. Histopathologic study of each case revealed a cyst lined externally by dense fibrous connective tissue to which skeletal muscle and adipose tissue were attached. The inner aspect of the cyst was lined by neuroglial tissue, possible immature retinal tissue, and cuboidal epithelium. No fully developed ocular structures or microphthalmos were identified. Fourteen cases of congenital cystic eye, including our cases, have been published in the English-language literature since 1964. We discuss and illustrate the findings in our cases and 10 others in which histopathologic findings were reported. Congenital cystic eye, microphthalmos with cyst, and microphthalmos with cystic teratoma should be suspected in patients with a small or unrecognizable eye and an orbital cystic mass that is detected by palpation or visualization.