MIP gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Major intrinsic protein of lens fibre (aquaporin 0)
  • Water channel protein in lens fibre cells
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Ocular features
  • Congenital cataracts
  • Lens opacification
Visual function
  • Progressive vision impairment due to lens opacification
Systemic features
  • No associated systemic features
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Genetic testing: identification of MIP 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. Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nature genetics. 1996 Feb 1;12(2):212-5.

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Updated on July 8, 2024
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