Leukocoria as the initial presentation of a retinal coloboma

Coloboma is a rare congenital defect (2.4-8.0/10 000 live births) of a sector of the eyeball. Iris disease manifests itself with anomalies in the shape of the iris (keyhole or oval pupil) and/or photophobia. An association may be observed with coloboma in other ocular regions and with complex malformation syndromes. We present the case of a 15-day-old newborn with a clinical diagnosis of unilateral leukocoria, which turned out to be an extensive coloboma of the optic nerve with retinal extension. The genetic study showed the presence of the morbid gene MAB21L2, described with heterozygous mutations related to microphthalmia and/or coloboma, with or without rhizomelic skeletal dysplasia.