Infliximab Reverses Symptoms and May Protect from Developing Chronic Restrictive Ophthalmopathy in Children with Familial Orbital Myositis: A Case Report

• Published in: Ocular immunology and inflammation Vol. 31; no. 5; pp. 1097 - 1100
• Main Authors: Huynh, Aimee, Siggs, Owen M., Wainstein, Brynn K., Gray, Paul E.
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 28.05.2023
• Subjects: Adult; Australia; Autosomal dominant; Child; children; Diplopia - complications; familial; Humans; Inflammation - complications; infliximab; Infliximab - therapeutic use; Orbital Diseases - diagnosis; orbital myositis; Orbital Myositis - diagnosis; Orbital Myositis - drug therapy; Orbital Myositis - etiology; Tumor Necrosis Factor Inhibitors; Australia; Autosomal dominant; familial; orbital myositis; children; infliximab
• ISSN: 0927-3948; 1744-5078
• DOI: 10.1080/09273948.2022.2074464

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. 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. Uncontrolled FOM in childhood may result in permanent extraocular eye muscle damage, while TNF-α blockade provides an excellent steroid-sparing effect.