MAF gene


Gene (OMIM No.)
Function of gene/protein
  • Transcription factor
  • Involved in the regulation of gene expression during lens development
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal dominant
Ocular features
  • Congenital cataracts
  • Microphthalmia
Visual function
  • Severe vision impairment or blindness from birth
Systemic features
  • No associated systemic features
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Genetic testing: identification of MAF mutations through targeted gene panels or whole exome sequencing
  • Early diagnosis and surgical intervention for cataract removal
  • Optical correction and visual rehabilitation
Therapies under research
  • None currently specified

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  1. Anand D, Agrawal SA, Slavotinek A, Lachke SA. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Human mutation. 2018 Apr;39(4):471-94.

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Updated on July 8, 2024
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