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Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers.
- Author(s): Garcia, Giancarlo A;
- Tian, Jack J;
- Apinyawasisuk, Supanut;
- Kim, Sarah;
- Akil, Handan;
- Sadun, Alfredo A
- et al.
Published Web Locationhttps://doi.org/10.1016/j.joco.2016.07.008
PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities.
MethodsA 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye.
ResultsFunduscopic examination and photography revealed the incidental finding of bilateral extensive peripapillary MRNF. OCT angiography provided excellent visualization of peripapillary retinal vessels, which were partially obscured by myelination on other imaging modalities.
ConclusionsThis association of Crouzon syndrome with bilateral peripapillary MRNF may lend insight into the developmental control of optic nerve myelination, the pathogenesis of MRNF, and the potential role of growth factors in these processes. Further, OCT angiography allowed for excellent blood vessel visualization in this case of MRNF.
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