ABSTRACT
Background
Orbital myositis is a rare sporadic eye disease associated with extraocular eye muscle inflammation. To date, there have been two reports of familial orbital myositis (FOM), which demonstrate partially penetrant autosomal dominant inheritance.
Cases
We report six new Australian cases of FOM, four of whom extend one of the reported pedigrees, as well as a separate mother and daughter manifesting orbital myositis, which constitutes a third report of familial occurrence. We can confirm that the disease has onset in childhood, appearing to go into remission in adult life, and that the inflammation is corticosteroid-responsive. However, one patient went on to develop permanent diplopia in upgaze. We also report two children suffering chronic pain and diplopia who demonstrated complete resolution of symptoms with the anti-TNF-α monoclonal infliximab.
Conclusion
Uncontrolled FOM in childhood may result in permanent extraocular eye muscle damage, while TNF-α blockade provides an excellent steroid-sparing effect.
Acknowledgments
The authors thank Dr. Karuna Keat for editing services.
Disclosure statement
No potential conflict of interest was reported by the author(s).
Ethics
This study has received institution ethical clearance through South Eastern Sydney LHD HREC – Reference 11/107.