@article {1635642,
	title = {ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome},
	journal = {BMJ Case Rep},
	volume = {15},
	number = {3},
	year = {2022},
	month = {2022 Mar 08},
	abstract = {Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a RHO GTPase that has a role for neural morphogenesis, however its effect on the eyes remains unknown. Here, we report a 44-year-old man who presented with eyelid swelling along with a history of bilateral hand contractures, high-arched feet and muscle wasting, who was found to have an ARHGEF-10 mutation. Neuroimaging was significant for numerous nerve-based cystic abnormalities in the bilateral orbits and throughout the neuraxis, and an orbital biopsy revealed S-100 and SOX-10 positive lesion consistent with pseudocysts. While the role of ARHGEF-10 remains unclear, further research is warranted to further describe its clinical manifestations.},
	keywords = {Adult, Eye, Eye Diseases, Humans, Inflammation, Male, Mutation, Orbit, Rho Guanine Nucleotide Exchange Factors, Syndrome},
	issn = {1757-790X},
	doi = {10.1136/bcr-2021-245475},
	author = {Tam, Emily K and Laver, Nora V and Thakore-James, Manisha and Mooney, Michael A and Daly, Mary K and Lefebvre, Daniel R}
}
