Xiaojun Hu, Peng Wang, Chengcheng Zhu, Ying Yuan, Mingming Liu, Bilian Ke
Purpose: To evaluate changes in the retinal microvascular network after posterior chamber phakic implantable collamer lens (ICL) surgery using optical coherence tomography angiography (OCTA) in patients with high myopia. Methods: Patients with high myopia who underwent ICL surgery were enrolled in this study. All patients underwent comprehensive ophthalmologic exams preoperatively and 1 week, 1 month, and 3 months postoperatively. The vascular densities (VDs) in the retina and the superficial and deep capillary plexuses of different annular and quadrantal areas were evaluated from OCTA images (Zeiss Cirrus 5000)...
2021: Molecular Vision
Anna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jabłónska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Beata S Lipska-Ziętkiewicz, Muhammad Imran Khan, Frans P M Cremers, Rafał Płoski, Krystyna H Chrzanowska
Purpose: Inherited retinal diseases (IRDs), encompassing many clinical entities affecting the retina, are classified as rare disorders. Their extreme heterogeneity made molecular screening in the era before next-generation sequencing (NGS) expensive and time-consuming. Since then, many NGS studies of IRD molecular background have been conducted in Western populations; however, knowledge of the IRD mutational spectrum in Poland is still limited. Until now, there has been almost no comprehensive analysis of this particular population regarding the molecular basis and inheritance of IRDs...
2021: Molecular Vision
Xiaoli Li, Zhiqiang Ye, Shuaili Pei, Dongliang Zheng, Lin Zhu
Purpose: To examine the neuroprotective effect of minocycline on retinal ischemia-reperfusion (IR) injury in rats and investigate its possible mechanism of action. Methods: Retinal IR injury was established by increasing the intraocular pressure in rats up to 110 mmHg for 60 min. The animals with retinal IR injury were intraperitoneally injected with 22.5 mg/kg minocycline twice a day for 14 days. The control group received the same amount of saline. Subsequently, funduscopic examination, retinal thickness measurement, retinal microvascular morphology, full-field electroretinography (ERG), retinal apoptotic cell count, and remaining retinal ganglion cell (RGC) count were performed...
2021: Molecular Vision
Akshay Mohan, Sandeep Saxena, Apjit Kaur, Wahid Ali, Levent Akduman
Purpose: Cortisol and prolactin are multifunctional hormones essential for various metabolic processes in the human body. This study evaluated for the first time the association between serum cortisol and prolactin levels and severity of diabetic retinopathy (DR) and their role as biomolecular biomarkers for disease progression. Methods: A tertiary care center-based cross-sectional study was conducted. Forty-six consecutive cases of type 2 diabetes mellitus (DM) were included...
2021: Molecular Vision
Mangesh Bawankar, Ashwani Kumar Thakur
Purpose: To characterize intermediate aggregate species on the aggregation pathway of γD-crystallin protein in ultraviolet (UV)-C light. Methods: The kinetics of γD-crystallin protein aggregation was studied with reversed-phase high-performance liquid chromatography (RP-HPLC) sedimentation assay, ThT binding assay, and light scattering. We used analytical ultracentrifugation to recognize intermediate aggregate species and characterized them with Fourier transform infrared spectroscopy (FTIR)...
2021: Molecular Vision
Dan Li, Xiaoyan Han, Zhennan Zhao, Yi Lu, Jin Yang
Purpose: Ephrin (Eph) receptor A2 ( EPHA2 ) polymorphism has been associated with age-related cataract (ARC) in different populations worldwide, but the mechanisms by which this polymorphism results in the development of ARC are unclear. Here, we chose four EPHA2 single nucleotide polymorphisms (SNPs; rs35903225, rs145592908, rs137853199, and rs116506614) and studied their function in human lens epithelial cells (LECs). Methods: The four EPHA2 mutants were overexpressed using lentiviral transduction in human LECs...
2021: Molecular Vision
Abrar K Alsalamah, Arif O Khan
Purpose: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a peroxisomal disorder due to biallelic mutations in AMACR. At least 13 genetically confirmed patients have been reported to date. Seven had obvious pigmentary retinopathy; however, for the other six, no retinal phenotype was mentioned. The purpose of this report is to document subtle retinal findings in an additional affected family. Methods: Retrospective case series (three affected siblings and their unaffected parents)...
2021: Molecular Vision
Dan Li, Xiaoyan Han, Zhennan Zhao, Yi Lu, Jin Yang
Purpose: Ephrin (Eph) receptor A2 ( EPHA2 ) polymorphism has been associated with age-related cataract (ARC) in different populations worldwide, but the mechanisms by which this polymorphism results in the development of ARC are unclear. Here, we chose four EPHA2 single nucleotide polymorphisms (SNPs; rs35903225, rs145592908, rs137853199, and rs116506614) and studied their function in human lens epithelial cells (LECs). Methods: The four EPHA2 mutants were overexpressed using lentiviral transduction in human LECs...
2021: Molecular Vision
Jingwang Fang, Fei Hou, Shen Wu, Yani Liu, Linna Wang, Jingxue Zhang, Ningli Wang, Kewei Wang, Wei Zhu
Purpose: Proper aqueous humor (AH) dynamics is crucial for maintaining the intraocular pressure (IOP) in the eye. This study aims to investigate the function of Piezo2, a newly discovered mechanosensitive ion channel, in regulating AH dynamics. Methods: Immunohistochemistry (IHC) analysis and western blotting were performed to detect Piezo2 expression. The Cre-lox system was applied to create a conditional knockout model of Piezo2. IOP and aqueous humor outflow facility in live animals were recorded with a Tonometer and a syringe-pump system for up to 2 weeks...
2021: Molecular Vision
Li Liu, Youde Jiang, Jena J Steinle
Purpose: To determine whether forskolin, a protein kinase A (PKA) agonist, eye drops could reduce neuronal and vascular damage after exposure to ischemia/reperfusion (I/R). Methods: C57BL/6J mice were exposed to the I/R protocol. A group of mice were given forskolin eye drops (10 μM) daily. Two days after I/R, neuronal measurements were performed, while vascular measurements were performed at 10 days post-I/R. Western blotting was conducted to investigate whether forskolin could increase PKA levels and reduce the levels of inflammatory mediators...
2021: Molecular Vision
Daniela Rodrigues-Braz, Min Zhao, Nilufer Yesilirmak, Selim Aractingi, Francine Behar-Cohen, Jean-Louis Bourges
Rosacea is a chronic inflammatory disease that affects the face skin. It is clinically classified into the following four subgroups depending on its location and severity: erythematotelangiectatic, papulopustular, phymatous, and ocular. Rosacea is a multifactorial disease triggered by favoring factors, the pathogenesis of which remains imperfectly understood. Recognized mechanisms include the innate immune system, with the implication of Toll-like receptors (TLRs) and cathelicidins; neurovascular deregulation involving vascular endothelial growth factor (VEGF), transient receptor potential (TRP) ion channels, and neuropeptides; and dysfunction of skin sebaceous glands and ocular meibomian glands...
2021: Molecular Vision
Xueqing Li, Xueshan Xiao, Shiqiang Li, Jiamin Ouyang, Wenmin Sun, Xing Liu, Qingjiong Zhang
Purpose: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindness is a frequent complication of the ocular phenotype. In this study, the correlation of the GJA1 genotype with the ocular phenotype was analyzed systematically. Methods: GJA1 variants were collected from in-house whole-exome sequencing data of 5,307 individuals. Potentially pathogenic variants (PPVs) were defined based on prediction of multiple in silico tools, related phenotypes, and previously established evidence...
2021: Molecular Vision
Jian Ma, Min Chen, Jing Ai, Michael J Young, Jian Ge
Purpose: Migration and integration remain critical challenges for stem cell replacement therapy. Glial barriers play an important role in preventing cell migration and integration. The purpose of this study was to investigate the effect and mechanisms of chondroitinase ABC on the migration of murine retinal progenitor cells (mRPCs) transplanted into the subretinal space of B6 mice. Methods: mRPCs were harvested from the neural retinas of P1 enhanced green fluorescent protein (GFP) B6 mice...
2021: Molecular Vision
Joo Young Shin, DaeJoong Ma, Mi-Sun Lim, Myung Soo Cho, Young Joo Kim, Hyeong Gon Yu
Purpose: To describe the derivation of photoreceptor precursor cells from human embryonic stem cells by coculture with RPE cells. Methods: Human embryonic stem cells were induced to differentiate into neural precursor cells and then cocultured with RPE cells to obtain cells showing retinal photoreceptor features. Immunofluorescent staining, reverse transcription-PCR (RT-PCR), and microarray analysis were performed to identify photoreceptor markers, and a cGMP assay was used for in vitro functional analysis...
2021: Molecular Vision
Jong Eun Park, Sun Ae Yun, Eun Youn Roh, Jong Hyun Yoon, Sue Shin, Chang-Seok Ki
Purpose: Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disorder and is associated with the arginine to histidine substitution at codon 124 (p.R124H) of the TGFBI gene. Although TGFBI p.R124H is known to be the most common corneal dystrophy-related pathogenic variant, there are few data on the frequency of this variant in the South Korean population. Methods: In total, 2,060 anonymous DNA samples from a public umbilical cord blood bank were tested for the TFGBI p...
2021: Molecular Vision
Liyan Xu, Kaili Yang, Qi Fan, Dongqing Zhao, Chenjiu Pang, Shengwei Ren
Purpose: Keratoconus (KC) is a corneal disorder characterized by corneal ectasia, progressive corneal thinning, and conical protrusion. This study aimed to elucidate the mitochondrial gene profile in Chinese patients with KC, analyze the mitochondrial haplogroup and heteroplasmy, and further explore the association between mitochondrial genes and KC. Methods: Mitochondrial sequencing was conducted on 100 patients with KC and 100 matched controls. Haplogroup analysis was conducted with logistic regression analysis...
2021: Molecular Vision
Natalya Eliseeva, Irina Ponomarenko, Evgeny Reshetnikov, Volodymyr Dvornyk, Mikhail Churnosov
Purpose: This study was aimed to replicate the previously reported associations of the three LOXL1 gene polymorphisms with exfoliation glaucoma (XFG) and to analyze these genetic variants for their possible contribution to primary open-angle glaucoma (POAG) in Caucasians from central Russia. Methods: In total, 932 participants were recruited for the study, including 328 patients with XFG, 208 patients with POAG, and 396 controls. The participants were of Russian ethnicity (self-reported) and born in Central Russia...
2021: Molecular Vision
José Manuel Benitez-Del-Castillo, Javier Soria, Arantxa Acera, Ana María Muñoz, Sandra Rodríguez, Tatiana Suárez
Purpose: This paper examines the tear concentration of cystatin S (CST4), calcyclin (S100A6), calgranulin A (S100A8), and matrix metalloproteinase 9 (MMP9), and the correlation between biomarker expression, clinical parameters, and disease severity in patients suffering from dry eye (DE). A comparison of the results is obtained via ELISA tests and customized antibody microarrays for protein quantification. Methods: This single-center, observational study recruited 59 participants (45 DE and 14 controls)...
2021: Molecular Vision
Michelle E McClements, Anum Butt, Elena Piotter, Caroline F Peddle, Robert E MacLaren
Purpose: The classic Kozak consensus is a critical genetic element included in gene therapy transgenes to encourage the translation of the therapeutic coding sequence. Despite optimizations of other transgene elements, the Kozak consensus has not yet been considered for potential tissue-specific sequence refinement. We screened the -9 to -1 region relative to the AUG start codon of retina-specific genes to identify whether a Kozak consensus that is different from the classic sequence may be more appropriate for inclusion in gene therapy transgenes that treat inherited retinal disease...
2021: Molecular Vision
Xuan Zou, Fengxia Yao, Fengrong Li, Shijing Wu, Hui Li, Zixi Sun, Tian Zhu, Xing Wei, Donghui Li, Ruifang Sui
Purpose: To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). Methods: Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to analyse the retinal lesions of patients with SCA7. A molecular genetic analysis was completed to confirm the number of CAG repeats in ATXN7 gene on the patients and their family members...
2021: Molecular Vision
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