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ABSTRACT: 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.
SUBMITTER: Chauhan BK
PROVIDER: S-EPMC5956696 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Chauhan Bharesh K BK Medsinge Anagha A Baumgartner Matthew P MP Scanga Hannah L HL Kamakari Smaragda S Gajdosova Eva E Camacho Carlos J CJ Nischal Ken K KK
American journal of ophthalmology case reports 20180228
<h4>Purpose</h4>To investigate the association between novel <i>PAX6</i> mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus.<h4>Observations</h4>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 <i>PAX6</i> - c.128C > T; p.Se ...[more]