A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33

Abstract

A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.

Hidden Globe in an Infant

“…2 Imaging also aids in excluding other entities, including meningocele or meningoencephalocele, dermoid cyst, and teratoma. 7 There are different treatment options, depending on the cyst size, degree of microphthalmos, orbital bone growth, overall cosmesis, and general condition of the patient. 3 Observation is generally the approach when the orbit has yet to reach maximal bony growth.…”

“…Ultrasonography, computed tomography, and/or magnetic resonance imaging are important to confirm the size and location of the orbital cyst and its association with the microphthalmic globe . Imaging also aids in excluding other entities, including meningocele or meningoencephalocele, dermoid cyst, and teratoma …”