Case series: Pyramidal cataracts, intact irides and nystagmus from three novel mutations.

Am J Ophthalmol Case Rep 2018 Jun 28;10:172-179. Epub 2018 Feb 28.

UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.

Purpose: To investigate the association between novel 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 - 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 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.

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Source
https://linkinghub.elsevier.com/retrieve/pii/S24519936173025
Publisher Site
http://dx.doi.org/10.1016/j.ajoc.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956696PMC
June 2018

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