Abstract
PAX6 mutations result in pan-ocular phenotypes which include iris defects, ranging from subtle iris defects to subtotal aniridia. In addition to iris defects, foveal hypoplasia and nystagmus are common phenotypes associated with PAX6 mutations. In this chapter, using optical coherence tomography (OCT), we show examples of the range of arrested retinal development associated with PAX6 mutations. Most of the patients with PAX6 mutations have grade 1 to grade 3 foveal hypoplasia. One of the challenges in obtaining reliable posterior segment scans is related to anterior segment opacities. We also show the potential of anterior segment OCT in detecting iris abnormalities in patients with PAX6 mutations.
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Thomas, M.G., Gottlob, I. (2015). Optical Coherence Tomography Imaging in Patients with PAX6 Mutations. In: Parekh, M., Poli, B., Ferrari, S., Teofili, C., Ponzin, D. (eds) Aniridia. Springer, Cham. https://doi.org/10.1007/978-3-319-19779-1_2
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DOI: https://doi.org/10.1007/978-3-319-19779-1_2
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-19778-4
Online ISBN: 978-3-319-19779-1
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