Related Experiment Video
Updated: Feb 10, 2026

Author Spotlight: Unraveling the Molecular Mechanisms in PCO and Fibrosis Following Cataract Surgery
Published on: December 1, 2023
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations
Bharesh K Chauhan1,2, Anagha Medsinge1, Matthew P Baumgartner3
1UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Purpose:
To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus.
Observations:
This is a retrospective observational case series in a multi-center setting with genetic testing. Three female patients were diagnosed with bilateral APyC, intact irides and nystagmus. Genetic testing identified the three patients had novel missense mutations in PAX6 - c.128C > T; p.Ser43Phe (S43F), c. 197T > A; p.Ile66Asn (I66N) and c.781C > G; p.Arg261Gly (R261G).
Conclusions And Importance:
This study demonstrates a novel phenotype of bilateral APyC, intact irides, and nystagmus in whom genetic testing for PAX6 identified novel missense mutations (S43F, I66N, R261G) in highly conserved DNA-binding domains. Implications of understanding why the iris is present in these cases is discussed.
More Related Videos
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Viral Mutations
Resistors In Series
In a series circuit, the...
Mutation, Gene Flow, and Genetic Drift
Series Resonance

