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Changes in retinal vasculature and ocular circulation may play an important role in the glaucoma development and progression. We evaluated the vertical asymmetry across the temporal raphe of the deep retinal layer vessel density, using swept-source optical coherence tomography angiography (SS-OCTA), and its relationship with the central visual field (VF) loss. Thirty-four eyes of 27 patients with open-angle glaucoma were included. SS-OCTA macular scanning was performed within a 3 × 3 mm (300 × 300 pixels) volume, centred on the fovea. The relationships between the vertical asymmetrical deep retinal vessel density reduction (ADRVD) across the temporal raphe and various ocular parameters were analysed. Twenty-two glaucomatous eyes with ADRVDs had central VF loss. Contrarily, ADRVDs were not found in any of the 12 eyes without central VF loss. Thirteen eyes (59.1%) with central VF loss had ADRVDs topographically corresponding to the central VF loss and macular ganglion cell complex thinning. The glaucomatous eyes with ADRVDs exhibited inferior rather than superior central VF loss (P = 0.032). Thus, ADRVD specifically indicates the glaucomatous central visual loss. Further analysis of ADRVD may improve our understanding on glaucoma pathogenesis, offering new treatment insights.

Biallelic variants in the EYS gene are a major cause of autosomal recessive inherited retinal disease (IRD), with a high prevalence in the Asian population. The purpose of this study was to identify pathogenic EYS variants, to determine the clinical/genetic spectrum of EYS-associated retinal disease (EYS-RD), and to discover disease-associated variants with relatively high allele frequency (1%-10%) in a nationwide Japanese cohort. Sixty-six affected subjects from 61 families with biallelic or multiple pathogenic/disease-associated EYS variants were ascertained by whole-exome sequencing. Three phenotype groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%). Twenty-six pathogenic/disease-associated EYS variants were identified, including seven novel variants. The two most prevalent variants, p.(Gly843Glu) and p.(Thr2465Ser) were found in 26 and twelve families (42.6%, 19.7%), respectively, for which the allele frequency (AF) in the Japanese population was 2.2% and 3.0%, respectively. These results expand the phenotypic and genotypic spectrum of EYS-RD, accounting for a high proportion of EYS-RD both in autosomal recessive RP (23.4%) and autosomal recessive CORD (9.9%) in the Japanese population. The presence of EYS variants with relatively high AF highlights the importance of considering the pathogenicity of non-rare variants in relatively prevalent Mendelian disorders. [ABSTRACT FROM AUTHOR]