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.

Keywords: autoimmune; autoinflammation; child; uveitis.

Figure 1.

The spectrum of autoinflammation and autoimmunity. Source: Adapted from McGonagle and colleagues. A-IMM, autoimmunity; A-INF, autoinflammation; Ank Spond, ankylosing spondylitis; CAPS, cryopyrin-associated periodic syndromes; DM, diabetes mellitus; HLA, human leukocyte antigen; JIA, juvenile idiopathic arthritis; NOD2, nucleotide-binding oligomerization domain containing 2; RA, rheumatoid arthritis; SLE, systemic lupus erythematous.

Figure 2.

Manifestations of childhood uveitis. (a) Anterior uveitis: chronic anterior uveitis, with posterior synechiae and cataract in a child with delayed diagnosis of juvenile idiopathic arthritis–related uveitis. (b) Intermediate uveitis: pars planitis at the slit lamp in a child with idiopathic disease. (c) Posterior uveitis: Retinal vasculitis: periphlebitis, midperipheral neovascularization with evidence of retinal ischaemia in a child with sarcoidosis. (d) Panuveitis: vitritis, optic disc oedema and multifocal chorioretinitis in a child with idiopathic disease. (e) Sequelae of inflammation: retinal photograph of an inflammatory choroidal neovascular membrane (CNVM) in a child with idiopathic panuveitis. (f) Sequelae of inflammation: cross-sectional optical coherence tomography (OCT) and OCT angiography (en face choriocapillaris window) images of the same CNVM noted in (e). Images (a), (b) and (d) courtesy of DSI Taylor.