A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to severe visual impairment. Intriguingly, >95% of cases carry the HLA-A29 allele, which defines the strongest documented HLA association for a human disease. We have conducted a genome-wide association study in 96 Dutch and 27 Spanish cases, and 398 unrelated Dutch and 380 Spanish controls. Fine-mapping the primary MHC association through high-resolution imputation at classical HLA loci, identified HLA-A*29:02 as the principal MHC association (odds ratio (OR) = 157.5, 95% CI 91.6-272.6, P = 6.6 × 10(-74)). We also identified two novel susceptibility loci at 5q15 near ERAP2 (rs7705093; OR = 2.3, 95% CI 1.7-3.1, for the T allele, P = 8.6 × 10(-8)) and at 14q32.31 in the TECPR2 gene (rs150571175; OR = 6.1, 95% CI 3.2-11.7, for the A allele, P = 3.2 × 10(-8)). The association near ERAP2 was confirmed in an independent British case-control samples (combined meta-analysis P = 1.7 × 10(-9)). Functional analyses revealed that the risk allele of the polymorphism near ERAP2 is strongly associated with high mRNA and protein expression of ERAP2 in B cells. This study further defined an extremely strong MHC risk component in BSCR, and detected evidence for a novel disease mechanism that affects peptide processing in the endoplasmic reticulum.

Myopia progression in children during home confinement in the COVID-19 pandemic: A systematic review and meta-analysis.

PURPOSE: Myopia is a growing pandemic, especially in children, who risk low vision later in life. Home confinement during the COVID-19 pandemic may have increased myopia progression through increased screentime, decreased time outdoors and increased near work activities. The aim of this study is to compare progression of myopia in children during home confinement period in the COVID-19 pandemic with pre-COVID-19 progression. METHODS: On January 2023 PubMed, EMBASE and Cochrane were searched for relevant studies. Studies meeting the following criteria were eligible for inclusion: children (under 18 years), home confinement due to COVID-19, spherical equivalent refractive (SER) and axial length (AL) measurements and a follow-up period to measure progression. Quality appraisal was performed by two reviewers independently using the Joanna Briggs Institute tool for cohort studies. Outcomes for myopia were assessed through meta-analysis, analyzing SER (random effects) and AL (fixed effects). RESULTS: Hundred and two articles were identified in the search, of which five studies were included in the analysis. Risk of bias is moderate with a few critical flaws in the studies. Myopia progressed more rapidly during the COVID-19 pandemic compared to the pre-COVID-19 period, both in terms of SER (-0.83D [95 %CI, -1.22, -0.43] and AL (0.36 mm [95 %CI, 0.13, 0.39]). CONCLUSION: Progression of myopia during the COVID-19 pandemic accelerated more rapidly compared to the pre-COVID-19 period. Impact of home confinement on myopia may be considered when future lockdown measures are being contemplated.

Myopia progression in children during home confinement in the COVID-19 pandemic: A systematic review and meta-analysis

Purpose Myopia is a growing pandemic, especially in children, who risk low vision later in life. Home confinement during the COVID-19 pandemic may have increased myopia progression through increased screentime, decreased time outdoors and increased near work activities. The aim of this study is to compare progression of myopia in children during home confinement period in the COVID-19 pandemic with pre-COVID-19 progression. Methods On January 2023 PubMed, EMBASE and Cochrane were searched for relevant studies. Studies meeting the following criteria were eligible for inclusion: children (under 18 years), home confinement due to COVID-19, spherical equivalent refractive (SER) and axial length (AL) measurements and a follow-up period to measure progression. Quality appraisal was performed by two reviewers independently using the Joanna Briggs Institute tool for cohort studies. Outcomes for myopia were assessed through meta-analysis, analyzing SER (random effects) and AL (fixed effects). Results Hundred and two articles were identified in the search, of which five studies were included in the analysis. Risk of bias is moderate with a few critical flaws in the studies. Myopia progressed more rapidly during the COVID-19 pandemic compared to the pre-COVID-19 period, both in terms of SER (-0.83D [95 %CI, −1.22, −0.43] and AL (0.36 mm [95 %CI, 0.13, 0.39]). Conclusion Progression of myopia during the COVID-19 pandemic accelerated more rapidly compared to the pre-COVID-19 period. Impact of home confinement on myopia may be considered when future lockdown measures are being contemplated. (AU)

Multimodal imaging of the disease progression of birdshot chorioretinopathy.

PURPOSE: To study outer retinal deterioration in relation to clinical disease activity in patients with birdshot chorioretinopathy using fundus autofluorescence and spectral-domain optical coherence tomography (OCT). METHODS: A single-centre retrospective cohort study was carried out on 42 eyes of 21 patients with birdshot disease, using a multimodal imaging approach including fundus autofluorescence, OCT, fluorescein angiography and indocyanine green angiography in combination with a patient chart review. The patients' overall clinical activity of retinal vasculitis during the follow-up period was determined by periods of clinical activity as indicated by fluorescein angiography and associated treatment decisions. Image analysis was performed to examine the spatial correspondence between autofluorescence changes and disruption of the photoreceptor inner segment ellipsoid zone on OCT. RESULTS: Three common types of outer retinal lesions were observed in fovea-centred images of 43% of patients: circular patches of chorioretinal atrophy, ellipsoid zone disruption on OCT, and outer retinal atrophy on autofluorescence and OCT. There was good spatial correspondence between ellipsoid zone disruption and areas of diffuse hyper-autofluorescence outside the fovea. Interestingly, the ellipsoid zone disruption recovered in four out of seven patients upon intensified therapeutic immunosuppression. CONCLUSION: Most patients only developed peripapillary atrophy and occasional perivascular hypo-autofluorescence. A multimodal imaging approach with autofluorescence imaging and OCT may help to detect ellipsoid zone disruption in the central retina of patients with birdshot disease. Our results suggest that ellipsoid zone disruption may be related to both the activity and duration of retinal vasculitis, and could help to determine therapeutic success in birdshot disease.