ObjectiveTo investigate the predictive baseline factors for a successful outcome following one dose of intravitreal triamcinolone acetonide (IVTA) in patients with macular oedema (ME) caused by branch retinal vein occlusion (BRVO).MethodsThis retrospective study enrolled patients with ME (macular retinal thickness [MRT] ≥ 300 µm) due to BRVO who still had ME 3 months after grid laser photocoagulation. Patients were divided according to treatment into an IVTA group and a laser-only group. The resolution of ME was documented at months 3 and 6.ResultsA total of 154 eyes with ME were investigated: IVTA group (90 eyes) and laser-only group (64 eyes). Predictive factors for successful IVTA treatment were younger age, shorter duration of ME, initial onset ME, accompanied by serous retinal detachment, few concomitant systemic diseases and nonischaemic BRVO. A broken foveal capillary ring was related to a poor treatment outcome. Eyes with cystoid spaces in the outer plexiform layer were more likely to have a good treatment response.ConclusionIVTA is effective for resolving ME due to BRVO after grid laser photocoagulation treatment.

Objective To identify causative genetic mutations by targeted exome sequencing in 9 independent pedigrees with familial exudative vitreoretinopathy (FEVR) and characterize the novel pathogenic mutations by molecular dynamics simulation. Methods Clinical data were collected from 9 families with FEVR. The causative genes were screened by targeted next-generation sequencing (TGS) and verified by the Sanger sequencing. In silico analyses (SIFT, Polyphen2, Revel, Mutation taster, and GERP++) were carried out to evaluate the pathogenicity of the mutations. Molecular dynamics was simulated to predict the alterations of protein conformation and flexibility transformation on pathogenesis. Results A 44% overall detection rate was achieved with four mutations including c.4289delC:p.Pro1431Argfs*8, c.2073G > T:p.Trp691Cys, c.1801G > A:p.Gly601Arg in LRP5 and c.633T > A:p.Tyr211* in TSPAN12 in 4 unrelated probands. Based on in silico analysis and ACMG standard, two of them, c.4289delC:p.Pro1431Argfs*8 and c.2073G > T:p.Trp691Cys of LRP5 were identified as novel pathogenic mutations. According to a molecular dynamics simulation, both mutations altered the secondary structure and spatial conformation, thus compromising its stability and flexibility. Conclusion Two novel genetic variants of the LRP5 gene were found to contribute to FEVR in this study, enriching the mutation spectrum of this condition. The impact of these two mutations on protein structure was validated by molecular dynamics simulation, further evidencing their pathogenicity.

Background To explore the impact of anti-vascular epithelial growth factor (ant-VEGF) on the thickness of each retinal layer in patients with macular edema (ME) secondary to the branch retinal vein occlusion (BRVO). Methods This retrospective study included patients with ME secondary to monocular BRVO who received anti-VEGF therapy in Ningxia Eye Hospital between January-December 2020. Results Forty-three patients (25 males) were included, with 31 showed > 25% reduction in central retinal thickness (CRT) after anti-VEGF therapy (response group), and the others showed a ≤25% reduction in CRT (no-response group). The response group showed significantly smaller mean changes in the ganglion cell layer (GCL) (after 2 months) and inner plexiform layer (IPL) (after 1, 2, and 3 months) and significantly greater mean changes in the inner nuclear layer (INL) (after 2 and 3 months), outer plexiform layer (OPL) (after 3 months), outer nuclear layer (ONL) (after 2 and 3 months), and CRT (after 1 and 2 months) (all P < 0.05) as compared to the no-response group. The mean change in the thickness of each retinal layer IPL (P = 0.006) between the two groups was significantly different after controlling for a time and with a significant time trend (P < 0.001). Additionally, patients in the response group were more likely to have an improvement in IPL (43.68 ± 6.01 at 1 month and 41.52 ± 5.45 at 2 months vs. 39.9 ± 6.86 at baseline) after anti-VEGF therapy, while those in no response group might show improvement in GCL (45.75 ± 8.24 at 1 month, 40.00 ± 8.92 at 2 months, and 38.83 ± 9.93 at 3 months vs. 49.67 ± 6.83 at baseline). Conclusions Anti-VEGF therapy might help restore the retinal structure and function in patients with ME secondary to BRVO, and those who have a response after anti-VEGF therapy are more likely to improve IPL, while those having no response might show improvement in GCL.