Square lens and cataract in a child with a de novo MAF gene mutation

Fig. 1: Anterior segment photograph under mydriasis following deep sclerectomy and corneal clearing. Full size image Square-shaped lens contour reflecting severe zonular dysgenesis, central cataract, iris hypoplasia, and anterior segment dysgenesis caused by a heterozygous de novo c.559_561del (p.H187del) mutation in the MAF gene (MAF bZIP transcription factor). The MAF gene is essential for embryonic lens development, regulating cell morphology, tissue architecture, and protein production; the lens is highly sensitive to reductions in MAF -dependent crystallin levels.