Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations
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 pa...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2018-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993617302578 |
| _version_ | 1828340407823499264 |
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| author | Bharesh K. Chauhan Anagha Medsinge Matthew P. Baumgartner Hannah L. Scanga Smaragda Kamakari Eva Gajdosova Carlos J. Camacho Ken K. Nischal |
| author_facet | Bharesh K. Chauhan Anagha Medsinge Matthew P. Baumgartner Hannah L. Scanga Smaragda Kamakari Eva Gajdosova Carlos J. Camacho Ken K. Nischal |
| author_sort | Bharesh K. Chauhan |
| collection | DOAJ |
| description | 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. Keywords: Pyramidal cataracts, Intact irides, Nystagmus, Novel PAX6 missense mutations |
| first_indexed | 2024-04-13T22:56:07Z |
| format | Article |
| id | doaj.art-c1d43e8bccff4b4c8b57b21e1f519066 |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-04-13T22:56:07Z |
| publishDate | 2018-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-c1d43e8bccff4b4c8b57b21e1f5190662022-12-22T02:26:01ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362018-06-0110172179Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutationsBharesh K. Chauhan0Anagha Medsinge1Matthew P. Baumgartner2Hannah L. Scanga3Smaragda Kamakari4Eva Gajdosova5Carlos J. Camacho6Ken K. Nischal7UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USAUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USADepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA 15260, USAUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USAOphthalmic Genetics Unit, OMMA, Ophthalmological Institute of Athens, Katehaki 74, 11525, Athens, GreeceGreat Ormond Street Hospital for Children, London, WC1N 3JH, UKDepartment of Computational and Systems Biology, University of Pittsburgh, Pittsburgh, PA 15260, USAUPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; Corresponding author. Children's Eye Center of UPMC and CHP, 4401 Penn Avenue, Suite 5701, 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. Keywords: Pyramidal cataracts, Intact irides, Nystagmus, Novel PAX6 missense mutationshttp://www.sciencedirect.com/science/article/pii/S2451993617302578 |
| spellingShingle | Bharesh K. Chauhan Anagha Medsinge Matthew P. Baumgartner Hannah L. Scanga Smaragda Kamakari Eva Gajdosova Carlos J. Camacho Ken K. Nischal Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations American Journal of Ophthalmology Case Reports |
| title | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
| title_full | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
| title_fullStr | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
| title_full_unstemmed | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
| title_short | Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations |
| title_sort | case series pyramidal cataracts intact irides and nystagmus from three novel pax6 mutations |
| url | http://www.sciencedirect.com/science/article/pii/S2451993617302578 |
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