| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8790992 | American Journal of Ophthalmology Case Reports | 2018 | 8 Pages |
Abstract
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
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Ophthalmology
Authors
Bharesh K. Chauhan, Anagha Medsinge, Matthew P. Baumgartner, Hannah L. Scanga, Smaragda Kamakari, Eva Gajdosova, Carlos J. Camacho, Ken K. Nischal,