BFSP1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Beaded filament structural protein 1
  • Involved in the structural integrity of lens fibres
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Ocular features
  • Congenital cataracts
Visual function
  • Progressive vision impairment due to cataracts
Systemic features
  • No associated systemic features
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Genetic testing: identification of BFSP1 mutations
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. Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Human genetics. 2007 May;121:475-82.

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Updated on July 8, 2024
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