Paediatric autoimmune and autoinflammatory conditions associated with uveitis

Abstract

Childhood uveitis comprises a collection of heterogenous ocular phenotypes which are associated with a diverse range of childhood autoimmune and autoinflammatory disorders. Of these genetic and/or acquired disorders, juvenile idiopathic arthritis is the most common, affecting 30-80% of children with uveitis. Up to a third of children with uveitis have ‘isolated’ idiopathic disease and do not have an associated systemic disease which manifests in childhood. However, uveitis may be the presenting manifestation of disease; thus, the apparently well child who presents with uveitis may have isolated idiopathic disease, but they may have an evolving systemic disorder. The diagnosis of most of the associated disorders is reliant on clinical features rather than serological or genetic investigations, necessitating detailed medical history taking and systemic examination. Adequate control of inflammation is key to good visual outcomes, and multidisciplinary care is key to good broader health outcomes.

Multimodal imaging in pediatric uveitis

“…The diagnosis is made if arthritis persists for at least 6 weeks. 40 , 41 It is estimated that 30–80% of pediatric uveitis is attributable to JIA, 3 with incidence ranging from 2 to 23 per 100,000 children and prevalence ranging from 4 to 400 per 100,000 children. 42 Frequency of uveitis varies across the seven subtypes of JIA, with oligoarticular JIA being associated with the highest rate of uveitis.…”

“… 42 Frequency of uveitis varies across the seven subtypes of JIA, with oligoarticular JIA being associated with the highest rate of uveitis. 3 , 40 In one cohort study following JIA patients over a mean of 6.9 years, 13.1% of patients developed uveitis. 40 Given that uveitis is the most common extra-articular complication of JIA and may be asymptomatic, routine ophthalmologic screening is recommended for children diagnosed with articular disease.…”

“…JIA uveitis most commonly presents as a bilateral chronic anterior uveitis. 3 , 42 Slit lamp examination has traditionally been the mainstay for evaluation of disease, and may identify the presence of anterior chamber cell and flare, posterior synechiae, band keratopathy, and cataracts. 3 , 15 , 43 In addition, patients may present with hypotony, defined as intraocular pressure (IOP) < 5 mm Hg or IOP ⩾ 5, but < 8 mm Hg, which adversely affects visual potential.…”

“… 2 Classification is made based on time course (acute, subacute, or chronic), etiology (infectious or noninfectious), and location within the eye (anterior, intermediate, posterior, or panuveitis). 1 Up to 90% of pediatric uveitis cases present as chronic anterior uveitis 3 with ocular complications, although the prevalence of uveitis subtype varies based on geography and ethnicity. 4…”

Standardising the structure of routinely collected data for childhood ocular inflammation: a SNOMED-CT mapping project

“…Alongside the need to personalise therapeutic approach, other evidence gaps in the field include aetiology, with the majority of cases being idiopathic,(6) disease burden, with studies reporting a 20-fold difference in incidence rates, (6)(7)(8) and the uncertainty around the determinants of long term positive and negative eye and global health outcomes. (9,10) Routinely collected clinical data have been harnessed across different disease areas to enable observational research on disease incidence, (11) prognostication, (12) and to support interventional studies. (13) For rare diseases, where multi-centre work is needed to reach the sample sizes sufficient to undertake such research, the re-use of routinely collected clinical data is dependent on the Medrxiv SNOMED-POIG 4 interoperability of data extracted across different sites.…”