A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome

Abstract

Purpose: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). Observations: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and an unusual finding of partial iris hypopegmentaion in her left eye. Conclusions: This is the first reported case of iris heterochromia in a BWS patient. Further studies are needed to support the association between eye findings and BWS related genetic defects.

Keywords

• Beckwith-Wiedemann syndrome
• Iris heterochromia
• Heterochromia iridis
• Case report