Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

ABSTRACT. IgG4-related orbital disease (IgG4-ROD) is a recently described condition that may account for a significant proportion of idiopathic lymphoplasmacytic or sclerotic orbital lesions. This study is the first meta-analysis of published cases and reveals several differences between IgG4-related disease affecting the orbit and that affecting the pancreas. IgG4-ROD affects a slightly younger group of patients, affects men and women approximately equally, is commonly associated with salivary gland lesions, is associated with a relatively higher serum IgG4 and may confer an increased risk of non-Hodgkin Lymphoma. Its pathogenesis may involve an immune response to antigen exposure in the upper aerodigestive tract.

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In recent years, IgG4-related ophthalmic disease (IgG4-ROD) has emerged as a common cause of orbital inflammation, accounting for a substantial proportion of idiopathic orbital inflammation and lymphoid hyperplasia. The last pooled analysis of published cases was conducted in 2012, but a large number of new cases have been added to the literature since then. In this review, we present the demographic, clinical, histological, and treatment data for 172 published cases of biopsy-confirmed IgG4-ROD. Results are accompanied by a review of the relevant literature.

This is the largest review of IgG4 staining among biopsy-confirmed IOI and OBLH. IgG4-ROD accounted for a substantial proportion of OBLH. The prevalence among cases of IOI was considerably reduced when the consensus diagnostic criteria were used in place of the comprehensive diagnostic criteria.

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RUNNING HEADClinical covariates impacting detection of glaucoma progression using mGCIPL and pRNFL analysis.