MAF gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Transcription factor
  • Involved in the regulation of gene expression during lens development
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • 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
Management
  • Early diagnosis and surgical intervention for cataract removal
  • Optical correction and visual rehabilitation
Therapies under research
  • None currently specified

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References

  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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