Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.

Purpose: Thyroid-associated orbitopathy (TO) is an autoimmune-mediated orbital inflammation that can lead to disfigurement and blindness. Multiple genetic loci have been associated with Graves' disease, but the genetic basis for TO is largely unknown. This study aimed to identify loci associated with TO in individuals with Graves' disease, using a genome-wide association scan (GWAS) for the first time to our knowledge in TO.

Orbital foreign body misdiagnosed as superior orbital rim fracture.

Orbital foreign bodies may be difficult to diagnose clinically and radiologically. In cases where a foreign body is suspected, both the mechanism of injury and the composition of the offending material need to be taken into account. A case is described of an orbital foreign body misdiagnosed as a superior orbital rim fracture, resulting in persistent ptosis and diplopia, and leading to delayed recovery for the patient, a commercial airline pilot.

Orbital lipomatous haemangiopericytoma: an unusual variant.

Haemangiopericytoma (HPC) of the orbit is a rare tumour occurring in all age groups and presenting with slowly progressive proptosis, ocular motility impairment and visual loss. Although most are benign tumours that are resectable at diagnosis, one-third of these tumours demonstrate malignant features and recur locally or metastasize, usually with a fatal outcome. In 1995, a morphologically unique variant, termed lipomatous haemangiopericytoma (L-HPC), was described.