Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers.
OBJECTIVE
We 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.


METHODS
A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye.


RESULTS
Funduscopic 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.


CONCLUSIONS
This 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.
Doheny Eye Institute UCLA, Los Angeles, CA, USA; University of California, Irvine School of Medicine, Irvine, CA, USA.
Giancarlo A
GA
Garcia
Doheny Eye Institute UCLA, Los Angeles, CA, USA; David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Jack J
JJ
Tian
Doheny Eye Institute UCLA, Los Angeles, CA, USA.
Supanut
S
Apinyawasisuk
Arrowhead Regional Medical Center, Colton, CA, USA.
Sarah
S
Kim
Doheny Eye Institute UCLA, Los Angeles, CA, USA.
Handan
H
Akil
Doheny Eye Institute UCLA, Los Angeles, CA, USA.
Alfredo A
AA
Sadun
Crouzon syndrome; Fibroblast growth factor receptor; Myelin; Myelinated retinal nerve fibers; Optical coherence tomography angiography