Objective To investigate the microvasculature and structural characteristics of the eyes of myopic patients and their association with posterior staphyloma (PS). Methods This was a retrospective, case-control study comprising of 106 eyes from 72 individuals. Using 1:1 matching of axial length (AL) of their eyes, patients were allocated into a PS group or no posterior staphyloma (NPS) group. All patients were examined using ultra-widefield fundus imaging, optical coherence tomography angiography, and ocular biometry to acquire microvasculature and microstructure parameters. Results The anterior chamber depth (ACD) of the PS group was significantly different from that of the NPS group (3.56 mm vs 3.76 mm, P < 0.001), as was 1ens thickness (3.72 mm vs 3.57 mm, P = 0.005) and spherical equivalent (SE)(-10.11D vs -8.80D, P = 0.014). The PS group had reduced choriocapillaris flow, subfoveal choroidal thickness (SFCT), and a thinner retinal layer compared with the NPS group. No difference in retinal blood flow between the two groups was observed. The PS group exhibited a smaller disc area (15082.89 vs 17,043.32, P = 0.003) and angle α between temporal retinal arterial vascular arcades (113.29°vs 128.39°, P = 0.003), a larger disc tilt ratio (1.41 vs 1.24, P < 0.001) and parapapillary atrophy (PPA) area (13840.98 vs 8753.86, P = 0.020), compared with the NPS group. Multivariate regression analysis indicated that disc tilt ratio (P = 0.031) and SFCT (P = 0.015) were significant predictors of PS. In addition, PS (P = 0.049), AL (P = 0.003), corneal refractive power (P < 0.001), ACD (P = 0.022), relative lens position (P = 0.045), and disc area (P = 0.011) were significant predictors of SE. Conclusions PS was found to be closely linked to a reduction in choriocapillaris perfusion and anatomical abnormalities including posterior and anterior segments. Furthermore, PS exacerbated the progression of myopia.

Background Aniridia is a congenital, panocular disease that can affect the cornea, anterior chamber angle, iris, lens, retina and optic nerve. PAX6 loss-of-function variants are the most common cause of aniridia, and variants throughout the gene have been linked to a range of ophthalmic abnormalities. Furthermore, particular variants at a given site in PAX6 lead to distinct phenotypes. This study aimed to characterize genetic variants associated with congenital aniridia in a Chinese family. Methods The proband and family underwent ophthalmologic examinations. DNA was sampled from the peripheral blood of all 6 individuals, and whole-exome sequencing was performed. Sanger sequencing was used to verify the variant in this family members. Results A novel variant (c.114_119delinsAATTTCC: p.Pro39llefsTer17) in the PAX6 gene was identified in subjects II-1, III-1 and III-2, who exhibited complete aniridia and cataracts. The proband and the proband’s brother also had glaucoma, high myopia, and foveal hypoplasia. Conclusions We identified that a novel PAX6 frameshift heterozygous deletion variant is the predominant cause of aniridia in this Chinese family. Trial registration We did not perform any health-related interventions for the participants.

Introduction: To evaluate the retinal microvasculature of the optic nerve head and macula in high myopia (HM), investigate the association between the vascular parameters and peripapillary atrophy deformation, and assess and identify the peripapillary atrophy morphology changes during the development of HM. Methods: 167 right eyes from 167 HM patients were enrolled in this cross-sectional study. Using the optical coherence tomography angiography (OCTA) and fundus camera, we evaluated the following parameters: radian and type of peripapillary atrophy (PPA), intrapapillary vascular density (IVD), peripapillary vascular density (PVD), macular vascular density (MVD), and foveal avascular zone (FAZ). Based on the PPA radian, subjects were divided into four groups: the non-PPA, temporal PPA, advanced PPA, and annular PPA. At the same time, the above parameters were compared between the groups using analysis of variance (ANOVA) and least significant difference(LSD) test. Results: Total enrolled patients were divided into the non-PPA group (22 eyes), temporal-PPA group (70 eyes), advanced-PPA group (60 eyes), and annular-PPA group (15 eyes). The results showed that the PVD in the annular-PPA group was smaller than that in the non-PPA group, especially in the superonasal (SN), nasosuperior (NS), nasoinferior (NI), inferotemporal (IT), temporoinferior (TI), and superotemporal (ST) directions (F=4.059, 5.014, 2.830, 4.798, 5.892, 3.439; P＜0.05). Notably, the PVD showcased the highest value in temporal, followed by that in superior and inferior, and the lowest in nasal. Concerning the fovea deep macular vascular density (fovea-DMVD), FAZ area, and subfoveal choroidal thickness (SFCT) in the annular-PPA group, they were less than those of the rest of the groups (P＜0.05). Conclusion: The retinal microvasculature differed significantly in HM according to the PPA morphology. In addition to PVD and SFCT, the PPA can also affect FAZ. Finally, we speculated that PVD demonstrated better predictability of myopic progression than MVD. Keywords: high myopia; peripapillary atrophy; optic nerve head; morphology; vascular density

Purpose To apply propensity score matching to evaluate the impact of peripapillary staphylomas (PPS) on vascular and structural characteristics in the myopic eyes. Methods This was a prospective, cross-sectional study. Forty-one control eyes and 41 eyes with PPS were analyzed. The eyes were selected using propensity score matching analysis based on the age and axial length. All subjects underwent ophthalmologic examinations for assessing vessel and structure parameters using swept-source optical coherence tomography (SS-OCT), OCT angiography, color fundus photography, and ocular biometry. Results As compared with control eyes, the eyes with PPS had shallower anterior chamber depth (3.61 ± 0.24 mm vs 3.77 ± 0.24 mm, P = 0.004), higher intraocular pressure (IOP) (16.59 ± 2.88 mmHg vs 14.53 ± 2.45 mmHg, P = 0.002), and higher myopic spherical equivalent (− 11.52 ± 3.22D vs − 9.88 ± 2.20D, P = 0.009). while corneal curvature and lens thickness between the two groups were not statistically different. Compared with control eyes, increased macular deep vessel density, reduced macular choriocapillaris and radial peripapillary capillary, and thinning retinal layer, ganglion cell complex, choroidal layer as well as the superior and inferior peripapillary retinal nerve fiber layer were observed in eyes with PPS, apart from larger disc area, parapapillary atrophy area, and degree of disc rotation. Logistic regression analysis revealed that the IOP (P = 0.046), disc rotation (P = 0.003), and average peripapillary choroidal thickness (P = 0.009) were associated with the presence of PPS. Conclusion Close association of PPS with exacerbation of myopia and anatomical alterations was observed which not only affected the eye posterior segment but also the anterior segments. We further identified significant reductions in the radial peripapillary capillary and macular choroidal perfusion with the increase in macular deep retinal flow blood of myopic eyes with PPS. Higher IOP, thinner peripapillary choroidal thickness, and rotated optic disc were risk factors for the presence of PPS.