What question did this study set out to answer?

To describe lens abnormalities and cataract formation in a child with a de novo mutation in the MAF gene.

July 26, 2026Open Access

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

GSGorka SesmaKing Khaled Eye Specialist Hospital KSKonrad SchargelKing Khaled Eye Specialist Hospital KAKhaled Abu-AmeroKing Khaled Eye Specialist Hospital

Key Points

To describe lens abnormalities and cataract formation in a child with a de novo mutation in the MAF gene.
Analyzed anterior segment photographs after deep sclerectomy
Identified lens contour abnormalities and associated ocular features
Examined genetic mutation (c.559_561del) affecting MAF gene
Observed square-shaped lens contour, indicating severe zonular dysgenesis
Detected central cataract and iris hypoplasia in the patient
Established a link between MAF gene mutation and lens development issues

Abstract

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. 559₅61del (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.

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