An incidental finding of intraocular choristoma in an enucleated microphthalmic globe: A histopathologic case report

Choristomas are benign growth of normal tissue in abnormal location and in the ophthalmic practice, they are more commonly found in the epibulbar region. Intraocular choristoma has been reported in different ocular structures but it is very rare especially in association with microphthalmos.

We present a 13-month-old child with bilateral microphthalmia with the left side being more significantly smaller than the right that required enucleation for introducing a larger silicone implant. The histopathological examination revealed an intraocular choristoma consisting of chondroid and adipose tissue with surrounding fibrosis. Other areas in the globe were also underdeveloped and dysplastic including the optic nerve, which was replaced by dense wavy collagen fibers and fibrovascular tissue.

Even though choristomas are benign, they may be extensive interfering with visual development especially the ones involving the epibulbar area. Systemic disease can have choristomas as an ocular feature such as in Goldenhar-Gorlin syndrome. Choristomas inside the eye are rare and they commonly involve the uveal tissue and the optic nerve head mostly in the form of ectopic glandular tissue and choroidal osseous choristoma. Our case is unique in its intraocular retrolental location, composition of chondroid tissue and fat, in addition to the fact that it was found within a microphthalmic globe with other interesting histopathological findings.

We report a case of an incidental finding of intraocular choristoma with associated microphthalmia, genetic testing may be useful for establishing a genetic etiology in such cases even in the absence of dysmorphic features.