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Case Reports
. 2022 Mar 8;15(3):e245475.
doi: 10.1136/bcr-2021-245475.

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome

Emily K Tam  1   2 , Nora V Laver  3 , Manisha Thakore-James  4   5 , Michael A Mooney  4   6   7 , Mary K Daly  4   2   8 , Daniel R Lefebvre  4   8
Affiliations
Case Reports

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome

Emily K Tam et al. BMJ Case Rep. .

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: eye; neurology (drugs and medicines).

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
External photo demonstrating eyelid fullness with normal extraocular motility.
Figure 2
Figure 2
CT of the head (left) and MRI of the head (middle) and spine (right) demonstrating numerous large hyperintense lesions along nerves.
See this image and copyright information in PMC

References

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