Bilateral complex microphthalmia with unilateral coloboma in a preterm neonate

A female neonate weighing 1300 g, born at 35 weeks of gestation with asymmetric intrauterine growth restriction had bilateral microphthalmia and microcornea [Figure 1] with no corneal haziness or cataracts. Fundus examination showed bilateral dysplastic retina. There were no other stigmata of intrauterine infection or any dysmorphism with normal systemic examination. B scan of the eyes showed an axial length of 14 mm in both eyes with iris coloboma in the right eye, confirming bilateral complex microphthalmia with unilateral coloboma [Figure 2]. TORCH titers, echocardiography, cranial ultrasound, skeletal survey, and automated auditory brainstem response (AABR) were normal. Parents denied genetic testing.

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Figure 1:

Bilateral microphthalmia and microcornea.

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Figure 2:

B scan of the eyes showed a right eye axial length measuring 14 mm with iris coloboma (white arrow) and a left eye axial length of 14 mm.

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Microphthalmia and coloboma arise due to defects in the optic fissure closure and are diagnosed when the anteroposterior diameter of the globe is <20 mm.^[1] Rehabilitation in these complex microphthalmia (when associated with retinal dysplasia) is for cosmetic purposes and includes endo-orbital volume replacement with expandable implants or orbital osteotomies.^[2]