A 3 year-old boy presents with right exotropia. His visual acuity by single optotype matching is 20/560 right and 20/30 left. Slit lamp examination reveals posterior embryotoxon, irido-corneal strands, corectopia, and sectoral iris atrophy supero-nasally in the right eye. In the left eye, there was posterior embryotoxon, irido-corneal strands, and patchy iris hypoplasia with corectopia (Figure 1). Physical examination shows maxillary hypoplasia with flattening of the mid-face, prominent forehead, broad nasal bridge, redundant periumbilical skin and dental anomalies (Figure 2). Intraocular pressure was 13 mmHg right and 18 mmHg left. Posterior segment examination is unremarkable and cycloplegic refraction is normal for age.
Dr. Wadakarn Wuthisiri, Thailand
Alex V. Levin, MD, MHSc, FRCSC
Chief, Pediatric Ophthalmology and Ocular Genetics
Wills Eye Hospital