The Baby With an Oval-Shaped Pupil

Nabeel Umer Moon; Kimberly G. Yen, MD


June 05, 2017

Case Diagnosis

This patient was diagnosed with iris coloboma, a congenital condition in which a portion of the iris does not fully form. Colobomas of the iris are typically asymptomatic, as in our patient, with the primary complaint being the aesthetic aspects and a slight increase in photosensitivity.

Aniridia is a congenital disorder in which there is complete or partial hypoplasia of the iris. The condition typically occurs bilaterally and is associated with other ocular abnormalities, such as foveal hypoplasia, optic nerve hypoplasia, cataract, ectopia lentis, and glaucoma.[1,2]

Heterochromia iridis is a condition in which one iris has different coloration from the other. It can be caused by either hypo- or hyperpigmentation. In heterochromia iridis, the iris is completely present and fully functional.

Iris nevi are pigmented, flat, benign tumors of the iris. There may be multiple lesions in a single eye, and they occur more often in blue-eyed patients.[3] Iris nevi are rarely present at birth and, like all other ocular nevi, become apparent around puberty.[3]

Essential iris atrophy is a condition in which slowly progressive atrophy occurs in the tissue of the iris, leading to complete disappearance of the iris. This can result in glaucoma and eventual blindness.[4] Essential iris atrophy presents unilaterally and occurs early in adult life.[4]

Traumatic iritis is caused by blunt or projectile trauma to the eye. The trauma sets off an inflammatory cascade, leading to formation of necrotic products. Patients often present with unilateral eye pain and may also exhibit the anterior chamber inflammatory reaction, in which there are white blood cells or proteinaceous fluid in the anterior chamber.[5]

Clinical Course

This patient had no other ocular abnormalities and had a full systemic exam with his pediatrician.

Sunglasses and a brimmed hat were recommended if the patient had photophobia.


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