Author/Authors :
Garcia, Giancarlo A. Doheny Eye Institute UCLA, Los Angeles, CA, USA , Tian, Jack J. Doheny Eye Institute UCLA, Los Angeles, CA, USA , Apinyawasisuk, Supanut Doheny Eye Institute UCLA, Los Angeles, CA, USA , Kim, Sarah Arrowhead Regional Medical Center, Colton, CA, USA , Akil, Handan Doheny Eye Institute UCLA, Los Angeles, CA, USA , Sadun, Alfredo A. Doheny Eye Institute UCLA, Los Angeles, CA, USA
Abstract :
Purpose: 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.
Keywords :
Myelin , Myelinated retinal nerve fibers , Crouzon syndrome , Fibroblast growth factor receptor , Optical coherence tomography angiography
