ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome


Tam EK, Laver NV, Thakore-James M, Mooney MA, Daly MK, Lefebvre DR. ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome. BMJ Case Rep 2022;15(3)

Date Published:

2022 Mar 08


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.

Last updated on 04/01/2022