Objective To observe and analyze the imaging features of pathologic myopic paravascular abnormalities (PVA) and macular retinoschisis (MRS) and their relationship with clinical features. MethodsA retrospective case series study. A total of 371 eyes of 224 patients with pathological myopia with PVA and/or MRS diagnosed by examination in Department of Ophthalmology of the First Affiliated Hospital of Zhengzhou University from September 2021 to December 2023 were included in the study. There were 74 eyes in 48 males and 297 eyes in 176 females. Age were 54 (49, 61) years; equivalent spherical lens (SE) was −13.375 (−18.00, −10.00) D. Axial length (AL) was 29.84 (28.27, 31.24) mm. According to the features of ultra-wide-angle sweep source optical coherence tomography, PVA morphology was divided into blood vessels and paravascular microfolds, paravascular retinal cysts, paravascular retinal splits and paravascular lamellar macular holes. MRS was divided into inner layer, outer layer and mixed layer according to splitting level, and grouped accordingly. The presence of dome-shaped macula (DSM), internal and external lamellar macular hole, and full lamellar macular hole (FTMH) were recorded. According to whether PVA combined with MRS or not, the affected eyes were divided into PVA group and PVA combined with MRS group. According to whether MRS involved the fovea, the affected eyes were divided into two groups: MRS not involved the fovea group and MRS involved the fovea group. Mann-Whitney U test was used to compare age, SE and AL among different groups. Qualitative data were compared by χ2 test. ResultsIn 371 eyes, there were 120 eyes in the simple PVA group; in the MRS group, there were 251 eyes, of which 208 eyes were in the PVA combined with MRS group. There were 33, 27, 3, 14, 12, 56, 28, and 7 eyes with or without retinal detachment, choroidal neovascularization, DSM, preretinal membrane, and simple superficial detachment of neuroepithelium in inner lamina, outer lamina, and FTMH, respectively. In 328 eyes with PVA, blood vessels and paravascular microfolds, paravascular retinal cysts, paravascular retinal splits and paravascular lamellar macular holes were 151, 236, 202 and 72 eyes, respectively. There were 142 eyes with single lesion (43.29%, 142/328). There were 186 eyes with 2 or more lesions (56.71%, 186/328). There were 34 eyes in the inner MRS group, 92 eyes in the outer MRS group and 125 eyes in the mixed MRS group, respectively. It involved 155 eyes in the fovea group; 96 eyes in the fovea group were not involved. There were significant differences in the number of PVA eyes between the outer MRS group, the inner MRS group and the mixed MRS group (χ2=30.614, 28.379; P＜0.001). Compared with PVA group, PVA group combined with MRS group was more likely to have two or more PVA lesions, the difference was statistically significant (χ2=30.535, P＜0.001). Compared with the inner MRS group and mixed MRS group, the age of the simple PVA group was younger, and the age of the outer MRS group was older, and the differences were statistically significant (P＜0.05). Compared with the inner MRS group and the outer MRS group, the simple PVA group had short AL, less myopia and better optimal corrected visual acuity (BCVA), while the mixed MRS group had long AL, more myopia and worse BCVA, and the differences were statistically significant (P＜0.05). Compared with the PVA group and the inner MRS group, the fovea was more involved in the outer MRS group and the mixed MRS group, and the difference was statistically significant (χ2=3.906, 10.836; P＜0.05). Those with MRS involved in fovea were older, AL was longer, myopia was more severe, and BCVA was worse (P＜0.001). DSM-associated splits were less likely to involve macula (P＜0.001). ConclusionPVA and MRS exhibit a variety of presentations, and their imaging features correlate with clinical features.
ObjectiveTo investigate the relationship between single nucleotide polymorphisms (SNP) in the CHRM1 gene and genetic susceptibility to high myopia (HM) in the Han population of Henan Province. MethodsA retrospective case-control study. From January 2021 to April 2023, 576 HM patients (HM group) and 768 healthy volunteers (control group) were recruited from the Department of Ophthalmology, the First Affiliated Hospital of Zhengzhou University. All participants were of Han ethnicity from Henan Province. SNP data for the CHRM1 gene in the Northern Han Chinese population were downloaded from the 1000 Genomes Project Online Website, with screening criteria of Hardy-Weinberg equilibrium P＞0.05 and minor allele frequency＞0.05. Haploview software was used to analyze HapMap genotypes, identifying 5 tagSNP: rs55885673, rs544978, rs56995061, rs1942499, and rs2075748. MassARRAY system was employed for genotyping the 5 tagSNP loci. The SHEsis online software was employed to analyze the distribution differences of genotypes and allele frequencies between the two groups. Linkage disequilibrium coefficient D' was used to evaluate the recombination events between SNP loci, and haplotypes with frequencies exceeding 3% were constructed for statistical analysis. Results The age of the HM group was significantly lower than that of the control group (t=18.515, P＜0.05), while no significant difference was observed in gender distribution (χ2=2.869, P=0.087). Compared with the control group, the HM group showed significantly higher frequencies of the C allele [odds ratio (OR)=1.44, 95% confidence interval (CI): 1.09-1.91, Pc=0.045)] and CC genotype (OR=1.50, 95% CI: 1.11-2.02, Pc=0.038) at the rs56995061 locus, and significantly lower frequencies of the T allele (OR=0.69, 95%CI: 0.52-0.91, Pc=0.045) and CT genotype (OR=0.67, 95%CI: 0.49-0.91, Pc=0.045). Additionally, the CT genotype frequency at the rs2075748 locus was significantly lower in the HM group (OR=0.66, 95%CI: 0.53-0.84, Pc=0.002). The haplotype G-T-A-A formed by rs55885673-rs56995061-rs1942499-rs544978 was significantly less frequent in the HM group (OR=0.71, 95%CI: 0.54-0.94, P=0.170). ConclusionsThe polymorphisms at the SNP loci rs56995061 and rs2075748 in the CHRM1 gene are associated with the genetic susceptibility to high myopia in the Chinese Han population. The G-T-A-A haplotype composed of rs55885673-rs56995061-rs1942499-rs544978 reduces the susceptibility to high myopia.