Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy

Graefe's Archive for Clinical and Experimental Ophthalmology - To characterize two patients with macular and rod-cone dystrophy and identify the genetic basis for disease. Ophthalmic...     

Photopic pupil size change in myopic orthokeratology and its influence on axial length elongation

AIM: To explore the photopic pupil size behavior in myopic children undergoing overnight orthokeratology (ortho-k) over 1-year period and its effects on the axial elongation. METHODS: A total of 202 Chinese myopic children were enrolled in this prospective clinical trial. Ninety-five subjects in ortho-k group and eighty-eight subjects in spectacle group completed the 1-year study. Axial length (AL) was measured before enrollment and every 6mo after the start of ortho-k. The photopic pupil diameter (PPD) was determined using the Pentacam AXL and measured in an examination room with lighting of 300-310 Lx. Stepwise multiple linear regression analysis was used to identify variables contribution to axial elongation. RESULTS: Compared with spectacle group, the average 1-year axial elongation was significantly slower in the ortho-k group (0.25±0.27 vs 0.44±0.23 mm, P<0.0001). In ortho-k group, PPDs significantly decreased from 4.21±0.62 mm to 3.94±0.53 mm after 1mo of lens wear (P=0.001, Bonferroni correction) and the change lasts for 3-month visit. No significantly change during the other follow-up visits was found (P>0.05, Bonferroni correction). The 4.81 mm PPD may be a possible cutoff point in the ortho-k group. Subjects with PPD below or equal to 4.81 mm tended to have smaller axial elongation compared to subjects with PPD above 4.81 mm after 1-year period (t=-3.09, P=0.003). In ortho-k group, univariate analyses indicated that those with older age, greater degree of myopia, longer AL, smaller baseline PPD (PPDbaseline) experienced a smaller change in AL. In multivariate analyses, older age, greater AL and smaller PPDbaseline were associated with smaller increases in AL. In spectacle group, PPD tended to be stable (P>0.05, Bonferroni correction) and did not affect axial growth. CONCLUSION: PPDs experience significantly decreases at 1-month and 3-month ortho-k treatment. Children with smaller PPD tend to experience slower axial elongation and may benefit more from ortho-k.     

A quantitative comparison of five optical coherence tomography angiography systems in clinical performance

AIM: To compare the clinical performance of 4 spectral-domain (SD) optical coherence tomography angiography (OCTA) systems: AngioVueTM, AngioPlexTM, Spectralis® OCTA, AngioScan, and 1 swept-source (SS) OCTA SS OCT AngioTM. METHODS: Twenty-seven undilated right eyes of 27 participants underwent OCTA examination using five different systems respectively for both 3×3 and 6×6 mm2 scan pattern (Spectralis OCTA for 3×3 mm2 scan only). Image quality, including vessel valid visibility and the number of motion artifacts, and acquisition time were evaluated. Repeated measures analysis of variance (ANOVA) with Bonferroni''s post-test and Friedman test with Dunn''s post-test were used to compare measurements. RESULTS: The age of the subjects was 28.19±5.55y (range, 23-49y). The spherical equivalent refraction was -2.55±1.84 D (range, 0.00 to -5.25 D). Significant difference was observed in the evaluation of vessel valid visibility (AngioVue the highest: 0.111±0.031 for 3×3 mm2 scan and 0.128±0.020 for 6×6 mm2 scan), number of motion artifacts (AngioVue the fewest: 0.778±1.086 for 3×3 mm2 scan and 0.333±0.620 for 6×6 mm2 scan) and acquisition time (AngioPlex the shortest: 8.537±1.921s for 3×3 mm2 scan and 8.298±1.741s for 6×6 mm2 scan; all P<0.001). CONCLUSION: There is poor agreement of measurements among systems. AngioVue provides images with the highest vessel valid visibility and the fewest motion artifacts. AngioPlex achieves the shortest acquisition.     

Improvement of human embryonic stem cell-derived retinal pigment epithelium cell adhesion, maturation, and function through coating with truncated recombinant human vitronectin

A?M: To assess the choroidal structural alterations after intravitreal injection of aflibercept in neovascular age-related macular degeneration (nAMD). METHODS: Fifty eyes with treatment-naïve nAMD were evaluated at baseline, 3rd, and 12th month. Fifty eyes of 50 healthy subjects were also included as controls. Choroidal thickness (CT) was measured in the subfoveal region. Total circumscribed choroidal area (CA), luminal area (LA), stromal area (SA), and choroidal vascularity index (CVI) was calculated using Image J. RESULTS: At baseline, subfoveal CT was increased in nAMD patients compared to controls (P=0.321). Eyes with nAMD had a significantly increased total circumscribed CA and SA (P=0.041, 0.005, respectively). The CVI was decreased (P=0.038). In the 3rd month, the subfoveal CT, LA, and CVI revealed a decrease (P=0.005, P=0.039, 0.043, respectively). In the 12th month, subfoveal CT, LA, and CVI were decreased in comparison to baseline measures (P<0.001, 0.006, 0.010, respectively). CONCLUSION: Significant structural alterations are found after intravitreal aflibercept treatment during the 12-month follow-up, in particular at the 3rd month, in eyes with nAMD.     

热休克蛋白5调控内质网应激在视网膜色素上皮细胞保护中的作用

目的　探讨相对分子质量70 000的热休克蛋白5（heat shock 70 kDa protein 5,HSPA5）调控内质网应激在N-亚视黄基-N-视黄基乙醇胺（N-retinylidene-N-retinylethanolamine,A2E）联合蓝光诱导视网膜色素上皮（retinal pigment epithelium,RPE）细胞损伤对RPE细胞的保护作用。方法　建立A2E联合蓝光诱导RPE细胞损伤模型,显微镜下观察RPE细胞对A2E的摄取。在RPE细胞损伤后3 h、6 h、12 h、24 h和48 h,运用CCK-8法检测RPE细胞活力;Western blot检测RPE细胞内质网应激相关蛋白HSPA5和CHOP的表达情况。构建HSPA5 shRNA慢病毒载体抑制RPE细胞中HSPA5的表达,实验分3组,HSPA5干扰组转染了HSPA5干扰序列,阴性干扰组转染了阴性对照序列,野生型组为未转染的RPE细胞。检测在RPE细胞损伤时,干扰HSPA5对内质网应激相关凋亡分子CHOP、Caspase-12表达以及RPE细胞活力的影响。结果　细胞活力检测结果显示,A2E联合蓝光照射后3 h、6 h、12 h、24 h和48 h,RPE细胞活力分别是对照组的（80.9±6.2）%、（73.3±5.8）%、（70.6±5.4）%、（62.3±6.1）%和（51.4±4.5）%,与对照组相比差异均有统计学意义（均为P<0.05）。Western blot检测结果显示,HSPA5和CHOP蛋白表达在RPE细胞损伤后均有不同程度增高（P<0.05）。在A2E联合蓝光处理后12 h,HSPA5干扰组的CHOP和Caspase-12蛋白表达较对照组显著升高,并且RPE细胞活力明显下降（均为P<0.05）。结论　A2E联合蓝光可诱导RPE细胞发生损伤,损伤机制与内质网应激相关。HSPA5具有调控内质网应激,减轻A2E及蓝光损伤,促进RPE细胞存活的作用。     

乙胺丁醇相关视神经病变

乙胺丁醇(ethambutol, EMB)是一种在临床广泛应用的一线抗结核药物,其具有的眼毒性是EMB最重要且严重的并发症。早期的乙胺丁醇相关视神经病变(ethambutol optic neuropathy,EON)是可逆的,延迟的诊断会导致永久性视力丧失。早期检测在EON的治疗中有重要作用。本文就EON的危险因素、早期检测、治疗和预防做一综述。