AI Article Synopsis
- Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a protein involved in the development of neural structures, but its impact on eye health is not well understood.
- A case study of a 44-year-old man revealed eyelid swelling, hand contractures, high-arched feet, and muscle wasting, leading to the discovery of a mutation in the ARHGEF-10 gene.
- Neuroimaging showed multiple cystic abnormalities in the eyes and nervous system, and a biopsy indicated lesions consistent with pseudocysts, prompting the need for further research on ARHGEF-10's clinical implications.
Article 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.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905991 | PMC |
| http://dx.doi.org/10.1136/bcr-2021-245475 | DOI Listing |
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Article Synopsis
- Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a protein involved in the development of neural structures, but its impact on eye health is not well understood.
- A case study of a 44-year-old man revealed eyelid swelling, hand contractures, high-arched feet, and muscle wasting, leading to the discovery of a mutation in the ARHGEF-10 gene.
- Neuroimaging showed multiple cystic abnormalities in the eyes and nervous system, and a biopsy indicated lesions consistent with pseudocysts, prompting the need for further research on ARHGEF-10's clinical implications.
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