HLA-DRB1*15:01 Paediatric Uveitis: Ophthalmological Presentation and Follow-Up

Purpose The purpose of this study is to describe the clinical presentation of the HLA-DRB1*15:01 positive non-anterior uveitis phenotype in paediatric uveitis and to determine if early markers that may indicate a possible risk of MS, white matter lesions on brain MRI and OCT RNFL or GCL thinning, are present in this subgroup.Methods In a cohort of 65 patients with non-infectious non-anterior paediatric uveitis patients we retrospectively characterized the uveitis phenotype based on underlying HLA-DRB1*15:01 genotype and described the clinical parameters on OCT and FA of 87 HLA-DRB1*15:01 negative and 37 HLA-DRB1*15:01 positive eyes.Results HLA-DRB1*15:01 positive patients had intermediate uveitis almost three times as often as HLA-DRB1*15:01 negative patients with uveitis (70.0% versus 24.4% respectively, p = 0.001). Cells in the anterior chamber were seen less often in HLA-DRB1*15:01 positive patients compared to in HLA-DRB1*15:01 negative patients (55.0% versus 90.7% respectively, p = 0.001). Meanwhile, vitreous floaters were found more frequently in HLA-DRB1*15:01-positive compared to -negative cases (80.0% versus 53.3% respectively, p = 0.041). Also, fern-like capillary leakage was almost twice as common in HLA-DRB1*15:01 positive compared to HLA-DRB1*15:01 negative patients (64.7% versus 34.1% respectively, p = 0.032). Multiple sclerosis developed in one HLA-DRB1*15:01 positive patient (5.0%), 15 years after intermediate uveitis was diagnosed.Conclusion The HLA-DRB1*15:01 allele is associated with intermediate uveitis in children, with absence of anterior chamber cells, presence of vitreous floaters and peripheral capillary fern-like leakage as distinct clinical features. At this point the usefulness of HLA-DRB1*15:01 typing for predicting the risk of multiple sclerosis is yet to be determined.