Spacing between the large vessels in the superficial and deep retinal layers had superior diagnostic performance than overall vessel density.

The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia. We catalogue genetic variation, population structure, disease associations and founder effects. We also explore the use of this dataset in imputation, to facilitate genetic studies in populations across Asia and worldwide.

OCTA helps understand the pathology and disease progression better in MacTel 2.

No abstract

Background To examine the retinal structure–vascular-function relationship using optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in myopia. Methods This was a prospective cross-sectional study comprising 86 eyes of 45 individuals with varying axial lengths and spherical equivalents and no posterior segment abnormalities. All eyes underwent optical coherence tomography with the Spectralis SD-OCT and OCTA with RTVue-XR Avanti; Optovue. Individual macular retinal layer thicknesses and flow areas and vessel densities were measured on OCT and OCTA, respectively. Linear correlations were made between the macular layer thicknesses, flow areas and vessel densities with axial length, spherical equivalent and visual acuity. Results The participants’ mean ages were 33.34 ± 14.45 years, mean spherical equivalent refractions were − 7.17 ± 5.71 D and axial lengths were 25.95 ± 2.41 mm. There were significant positive correlations of foveal angle (r = 0.757, p = 0.001), inner retinal (r = 0.764, p = 0.001) and outer plexiform layer (r = 0.771, p = 0.001) thickness on OCT and vessel densities in deep capillary plexus (r = 0.313, p = 0.003) on OCTA with axial length and negative correlations with spherical equivalents and visual acuity. Significant negative correlations of outer nuclear layer (r = − 0.560, p = 0.03) and photoreceptor outer segment layer thickness (r = − 0.856, p < 0.001) were noted on OCT with axial length and positive correlations with spherical equivalents and visual acuity. Conclusion The lateral retinal stretching in myopia could possibly explain the correlation between retinal layer thickness, vascular density and visual acuity in these eyes. Further research is required to investigate this.