Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

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...

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Bibliographic Details
Main Authors: Bharesh K. Chauhan, Anagha Medsinge, Matthew P. Baumgartner, Hannah L. Scanga, Smaragda Kamakari, Eva Gajdosova, Carlos J. Camacho, Ken K. Nischal
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:American Journal of Ophthalmology Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993617302578

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http://www.sciencedirect.com/science/article/pii/S2451993617302578

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