{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:10:20Z","timestamp":1756293020907,"version":"3.44.0"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,2,10]]},"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2021-245475","type":"journal-article","created":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T11:40:02Z","timestamp":1646739602000},"page":"e245475","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5982-1140","authenticated-orcid":false,"given":"Emily K","family":"Tam","sequence":"first","affiliation":[{"name":"Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA"},{"name":"Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nora V","family":"Laver","sequence":"additional","affiliation":[{"name":"Department of Pathology and Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manisha","family":"Thakore-James","sequence":"additional","affiliation":[{"name":"Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA"},{"name":"Department of Neurology, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A","family":"Mooney","sequence":"additional","affiliation":[{"name":"Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA"},{"name":"Department of Neurosurgery, Brigham and Women\u2019s Hospital, Boston, MA, USA"},{"name":"Department of Neurosurgery, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary K","family":"Daly","sequence":"additional","affiliation":[{"name":"Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA"},{"name":"Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA"},{"name":"Department of Ophthalmology, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel R","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"Veterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA"},{"name":"Department of Ophthalmology, Harvard Medical School, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,3,8]]},"reference":[{"key":"2025082703442614000_15.3.e245475.1","unstructured":"The Gene Card: Human Gene Database . ARHGEF-10 gene, 2020. Available: https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ARHGEF10 [Accessed 1 Nov 2020]."},{"key":"2025082703442614000_15.3.e245475.2","unstructured":"Mouse Genome Informatics . Arhgef10 gene detail. Available: http:\/\/www.informatics.jax.org\/marker\/MGI:2444453"},{"key":"2025082703442614000_15.3.e245475.3","doi-asserted-by":"publisher","DOI":"10.1086\/378159"},{"key":"2025082703442614000_15.3.e245475.4","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004635"},{"key":"2025082703442614000_15.3.e245475.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24265"},{"key":"2025082703442614000_15.3.e245475.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.06.056"},{"key":"2025082703442614000_15.3.e245475.7","unstructured":"Charcot Marie Tooth Disease . MayoClinic. Available: https:\/\/www.mayoclinic.org\/diseases-conditions\/charcot-marie-tooth-disease\/symptoms-causes\/syc-20350517"},{"key":"2025082703442614000_15.3.e245475.8","unstructured":"Bird TD . Charcot-marie-tooth (Cmt) hereditary neuropathy overview. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae. Seattle: University of Washington, 1993."},{"key":"2025082703442614000_15.3.e245475.9","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.123.10.1443"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-245475","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:44:33Z","timestamp":1756291473000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-245475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,8]]},"published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1136\/bcr-2021-245475"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-245475","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}