Correlations between vitreous cytokine levels and inflammatory cells in fibrovascular membranes of patients with proliferative diabetic retinopathy.
Conclusions: The correlation of cytokine (MCP-1 and IL-8) vitreous levels with the density of inflammatory cells in FVMs, and differences in cytokine levels in the vitreous between patients with active and inactive PDR, and between the vitreous and serum in PDR indicate the importance of local intraocular inflammation in patients with PDR. PMID: 32606566 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Differential DNA methylation patterns in human Schlemm's canal endothelial cells with glaucoma.
Conclusions: This study represents the first genome-wide DNA methylation profiling in cultured human primary SC cells. The DMSs were enriched in the pathways related to outflow resistance. Several DMRs were validated in glaucoma-associated genes, further suggesting the role of DNA methylation in glaucoma development. This study could provide comprehensive understanding of DNA methylation in glaucoma and its effect on aqueous humor outflow. PMID: 32606567 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - July 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
Conclusions: This study extends the pathogenic variant spectrum for the RP1 and RLBP1 genes. The study also revealed the consequent clinical progression, severity, and presentation of RP. Furthermore, we confirm that ES is an efficient molecular diagnostic approach for RP. PMID: 32587456 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 27, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A systems genetics approach to revealing the Pdgfb molecular network of the retina.
This study aimed to identify the genes and potential pathways through which PDGFB affects retinal phenotypes by using a systems genetics approach. Methods: Gene expression data had been previously generated in a laboratory for the retinas of 75 C57BL/6J(B6) X DBA/2J (BXD) recombinant inbred (RI) strains. Using this data, the genetic correlation method was used to identify genes correlated to Pdgfb. A correlation between intraocular pressure (IOP) and Pdgfb was calculated based on the Pearson correlation coefficient. A gene set enrichment analysis and the STRING database were used to evaluate gene function and to c...
Source: Molecular Vision - June 27, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Tyrosine triple mutated AAV2-BDNF gene therapy in an inner retinal injury model induced by intravitreal injection of N-methyl-D-aspartate (NMDA).
Conclusions: Results showed that tm-scAAV2-BDNF-treated retinas were resistant to NMDA injury, while retinas treated with the control AAV exhibited histopathological and functional changes after the administration of NMDA. These results suggest that tm-scAAV2-BDNF is potentially effective against inner retinal injury, including normal tension glaucoma. PMID: 32565669 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 24, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Conclusions: Biallelic RP1 mutations cause a broad spectrum of retinal disease. Exon 2 missense mutations are a significant contributor to disease and can be associated with a considerably later onset of retinitis pigmentosa than that typically associated with biallelic RP1 mutations. PMID: 32565670 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 24, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Technical brief: Direct, real-time electrochemical measurement of nitric oxide in ex vivo cultured human corneoscleral segments.
In conclusion, these results demonstrate that NO-sensing electrodes can be used to directly measure NO levels in real time from the tissues of the outflow pathway. PMID: 32565671 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 24, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Erratum: Anti-inflammatory effect of pigment epithelium-derived factor in DBA/2J mice.
Authors: Abstract [This corrects the article on p. 438 in vol. 15, PMID: 19247457.]. PMID: 32546934 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Erratum: Survivin expression is associated with lens epithelial cell proliferation and fiber cell differentiation.
Authors: Abstract [This corrects the article on p. 2758 in vol. 18, PMID: 23213276.]. PMID: 32546935 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
Conclusions: NCMD has a wide spectrum of clinical phenotypes that can overlap with AMD, making it challenging to correctly diagnose affected individuals and family members. The DNA sequence variant we found in the CFH gene of some of the affected family members may suggest some role as a modifier gene. However, this variant still does not explain the huge phenotypic variability of NCMD and needs to be studied in other and larger populations. PMID: 32476814 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Review: Role of cAMP signaling in diabetic retinopathy.
Authors: Steinle JJ Abstract Despite decades of research, diabetic retinopathy remains the leading cause of blindness in working age adults. Treatments for early phases for the disease remain elusive. One pathway that appears to regulate neuronal, vascular, and inflammatory components of diabetic retinopathy is the cyclic adenosine 3', 5'-monophosphate (cAMP) pathway. In this review, we discuss the current literature on cAMP actions on the retina, with a focus on neurovascular changes commonly associated with preproliferative diabetic retinopathy models. PMID: 32476815 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

The correlation of cytokines and sensory hypersensitivity in mild dry eye patients characterized by symptoms outweighing signs.
Conclusions: Tear and conjunctival cytokines, including IL-1 β, IL-2, IL-6, and TNF-α, were correlated with sensory hypersensitivity status in the DESOS groups, suggesting they play an important role in the discordance of symptoms outweighing signs. PMID: 32476816 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

The use of Matrigel combined with encapsulated cell technology to deliver a complement inhibitor in a mouse model of choroidal neovascularization.
Conclusions: These findings indicate that systemic production of the AP inhibitor CR2-fH can reduce CNV in the mouse model. PMID: 32476817 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing.
Conclusions: The results suggest that some of the associations identified in POAG risk loci can be ascribed to rare coding variants with likely functional effects that modify POAG risk. PMID: 32476818 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Conclusions: The results expand the molecular spectrum of GSN-linked systemic amyloidosis. The novel p.Met544Arg pathogenic variant is predicted to affect gelsolin function, presumably by impairing a potential calcium-sensitive, actin-binding region. PMID: 32368002 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - May 7, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Effect of vitamin B12 supplementation on retinal lesions in diabetic rats.
Conclusions: Vitamin B12 supplementation of diabetic rats appeared to be beneficial by circumventing retinal hypoxia, VEGF overexpression, and ER stress-mediated cell death in the retina. The present study adds another potential therapeutic strategy of vitamin B12 in diabetes. PMID: 32355441 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - May 2, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A pilot study to assess the effect of a three-month vitamin supplementation containing L-methylfolate on systemic homocysteine plasma concentrations and retinal blood flow in patients with diabetes.
Authors: Schmidl D, Howorka K, Szegedi S, Stjepanek K, Puchner S, Bata A, Scheschy U, Aschinger G, Werkmeister RM, Schmetterer L, Garhofer G Abstract Purpose: The aim of the present study was to investigate the effect of a three-month dietary supplementation with a methylfolate formulation on homocysteine plasma concentrations and ocular blood flow parameters in patients with diabetes. Methods: Twenty-four patients with diabetes received a dietary supplement (Oculofolin, Aprofol AG, Switzerland) containing 900 µg L‑methylfolate (levomefolate calcium or [6S]-5-methyltetrahydrofolic acid, calcium salt), m...
Source: Molecular Vision - May 2, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Mutations in FYCO1 identified in families with congenital cataracts.
Conclusions: We report two novel mutations and a previously reported mutation in FYCO1 in three large consanguineous families. Taken together, mutations in FYCO1 contribute nearly 15% to the total genetic load of autosomal recessive congenital cataracts in this cohort. PMID: 32355443 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - May 2, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Proinflammatory cytokines trigger biochemical and neurochemical changes in mouse retinal explants exposed to hyperglycemic conditions.
Conclusions: These data suggest that short-term exposure to proinflammatory cytokines contributes to the early biochemical and neurochemical changes caused by hyperglycemia, by affecting retinal energy metabolism and amino acid distribution. These data are consistent with the idea that early intervention to prevent inflammation-triggered loss of metabolic homeostasis in patients with diabetes is necessary to prevent DR progression. PMID: 32300272 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Conclusions: Patients with RS1 mutations present profound phenotypic variability and show no clear genotype-phenotype correlations. Patients with null mutations tend to have more severe XLRS-related visual defects. PMID: 32300273 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Glial cells of the human fovea.
Conclusions: This study showed that in humans, astrocytic glial cells cover the foveal pit. Their roles in macula homeostasis and mechanisms of macular diseases disease remain to be determined. PMID: 32280188 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - April 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

The association between intravitreal ranibizumab therapy and serum cytokine concentrations in patients with diabetic macular edema.
Conclusions: In patients with DME, intravitreal ranibizumab therapy appears to influence the serum levels of a range of cytokines. After two injections, intravitreal ranibizumab therapy appears to be associated with a significant decrease in inflammatory mediators and a rise in VEGF and sVEGFR1. PMID: 32256028 [PubMed - as supplied by publisher] (Source: Molecular Vision)
Source: Molecular Vision - April 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Long-term evaluation of retinal morphology and function in a mouse model of oxygen-induced retinopathy.
Conclusions: We demonstrated histological evidence of persistent ectopic synapses, prolonged cellular apoptosis, and gliosis in the OIR retina that corresponded with long-term in vivo evidence of capillary attrition, inner retinal thinning, and dysfunction despite full peripheral revascularization. Further studies on the mechanisms underlying these persistent phenotypes could enhance our understanding of ROP pathogenesis and lead to new therapeutic targets to preserve visual function in premature infants. PMID: 32256029 [PubMed - as supplied by publisher] (Source: Molecular Vision)
Source: Molecular Vision - April 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Osmotic and hypoxic induction of osteopontin in retinal pigment epithelial cells: Involvement of purinergic receptor signaling.
Conclusions: The data indicated that RPE cells produce and respond to OPN; OPN expression is, in part, induced by the cellular danger signal ATP. RPE-derived neuroprotective factors such as bFGF may contribute to the prosurvival effect of OPN on photoreceptor cells. PMID: 32214785 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 29, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

p62/Sequestosome 1 levels increase and phosphorylation is altered in Cx50D47A lenses, but deletion of p62/sequestosome 1 does not improve transparency.
Conclusions: Although homozygous Cx50D47A lenses have increased levels of p62, a specific reduction in p62 phosphorylation at T269/S272, and a specific increase in p62 phosphorylation at S349, this protein is not a critical determinant of the severity of the abnormalities of these lenses (reduced growth or differentiation and cataracts). The lens may utilize redundant or compensatory systems (such as changes in levels of ubiquilin 2) to compensate for the lack of p62 in homozygous Cx50D47A lenses. PMID: 32214786 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 29, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
Conclusions: We have reported three new cases with pathogenic variants in PEX6 presenting with milder forms of the Zellweger spectrum disorders (ZSD). The three cases showed distinct clinical features. Thus, expanding the phenotypic spectrum of PBDs and ascertaining exome sequencing is an effective strategy for an accurate diagnosis of clinically overlapping and genetically heterogeneous disorders such as deafness-blindness association. PMID: 32214787 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 29, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.
Conclusions: The results confirmed that mutations in PAX6 are the predominant cause of aniridia, and the majority are loss-of-function mutations that usually result in classical aniridia. In contrast, missense mutations, run-on mutations, and small numbers of splicing mutations mostly lead to atypical aniridia and an intrafamilial phenotypic variability of iris hypoplasia. PMID: 32214788 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 29, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A standardized method to assess the endogenous activity and the light-response of the retinal clock in mammals.
Conclusions: Our work shows that the retina cultures are particularly sensitive to some aspects of the culture procedure, and it provides an accurate standard protocol to avoid biases due to artifactually induced phase shifts resulting from the medium change or physical displacement. PMID: 32180677 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

RNA sequencing analysis of long non-coding RNA expression in ocular posterior poles of guinea pig myopia models.
Conclusions: High-throughput RNA-seq revealed previously undescribed lncRNA expression profiling in guinea pig FDM and LIM models. These results may shed light on the molecular pathogenesis of myopia and provide clues for interventional targets for this highly prevalent visual disorder. PMID: 32180678 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Endogenous Wnt/ β-catenin signaling in Müller cells protects retinal ganglion cells from excitotoxic damage.
Conclusions: Endogenous Wnt/β-catenin signaling in Müller cells protects RGCs against excitotoxic damage, an effect that is most likely mediated via the induction of neuroprotective factors, such as Lif. PMID: 32180679 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

The expression of cytokines in aqueous humor of high myopic patients with cataracts.
Authors: Zhang JS, Da Wang J, Zhu GY, Li J, Xiong Y, Yusufu M, He HL, Sun XL, Ju T, Tao Y, He SZ, Wan XH Abstract Purpose: To analyze the expression of 440 human cytokines in aqueous humor of high myopic patients with cataracts. Methods: Eighty-five patients with cataracts were recruited in this study. In the screening stage, the RayBio G-Series Human Cytokine Antibody Array 440 was used to assay the aqueous humor samples collected from nine high myopic patients with cataracts and eight non-myopic patients with cataracts right before the surgery. The array was further used for verification of the screened cytok...
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes.
Conclusions: This LR-PCR-Seq procedure (single PCR reaction per gene followed by sequencing) can identify exonic and intronic SNP variants in OPN1LW, OPN1MW, OPN1SW, and rhodopsin genes. There is no need for restriction enzyme digestion or multiple PCR steps that can introduce errors. Future studies will combine the LR-PCR-Seq with perceptual behavior measures, allowing for accurate correlations between opsin genotypes, retinal photopigment phenotypes, and color perception behaviors. PMID: 32180681 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Using BXD mouse strains in vision research: A systems genetics approach.
Authors: Geisert EE, Williams RW Abstract We illustrate the growing power of the BXD family of mice (recombinant inbred strains from a cross of C57BL/6J and DBA/2J mice) and companion bioinformatic tools to study complex genome-phenome relations related to glaucoma. Over the past 16 years, our group has integrated powerful murine resources and web-accessible tools to identify networks modulating visual system traits-from photoreceptors to the visual cortex. Recent studies focused on retinal ganglion cells and glaucoma risk factors, including intraocular pressure (IOP), central corneal thickness (CCT), and susceptib...
Source: Molecular Vision - March 19, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A negative correlation of axial length with aqueous humor concentration of cytokines in patients with congenital cataracts.
Authors: Zhang F, Chang P, Zhao Y, Zhao Y Abstract Purpose: To investigate the association between cytokine (and related proteins) concentrations in the aqueous humor (AH) of patients with congenital cataracts and preoperative and postoperative axial length. Methods: Samples from the AH were collected from 25 eyes of 17 patients with congenital cataracts who underwent congenital cataract extraction and intraocular lens implantation. Multiplex enzyme-linked immunosorbent assays (ELISAs) and Luminex xMAP technology were used to assess the concentration of cytokines or chemokines, and acute phase proteins in the A...
Source: Molecular Vision - March 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A simple and efficient method for generating human retinal organoids.
Conclusions: This improved, robust, and efficient protocol should facilitate large-scale differentiation of pluripotent stem cells into retinal organoids in support of human disease modeling and therapy development. PMID: 32174751 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 18, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Role of the XIST-miR-181a-COL4A1 axis in the development and progression of keratoconus.
Conclusions: PPARG, HLA-B, COL4A1, COL4A2, miR-181a, and XIST might be correlated with the development of KC. Further, the XIST-miR-181a-COL4A1 axis might be implicated in the pathogenesis of KC. PMID: 32165822 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
Conclusions: We identified three novel mutations, p.D1010N, p.Q1143Rfs*35, and p.C1757Y, in LTBP2 responsible for PCG. PMID: 32165823 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA. PMID: 32165824 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Role of the PGE2 receptor in ischemia-reperfusion injury of the rat retina.
Conclusions: These results indicate that the COX-2/PGE2/EPs pathway is involved in retinal damage and astrocyte inflammation. In addition, the results suggest that the neuroprotective effects of RES may be associated with decreased production of inflammatory mediators. These results suggest that the PGE2 receptor may be a key factor in the treatment of neurodegenerative diseases, and that RES may be used as a possible therapeutic strategy for glaucoma. PMID: 32165825 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A method for gene knockdown in the retina using a lipid-based carrier.
Conclusions: This work supports the use of Invivofectamine 3.0 as a transfection agent for effective delivery of nucleic acids to the retina for gene function studies and as potential therapeutics. PMID: 32165826 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

MicroRNA-29b-3p inhibits cell proliferation and angiogenesis by targeting VEGFA and PDGFB in retinal microvascular endothelial cells.
Conclusions: miR-29b-3p negatively regulates RMEC proliferation and angiogenesis, at least partly by targeting VEGFA and PDGFB. These data may provide a potential therapeutic strategy for treating ocular neovascular diseases. PMID: 32165827 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Cell senescence altered the miRNA expression profile in porcine angular aqueous plexus cells.
This study investigates the impact of aging on the miRNA expression profile in porcine angular aqueous plexus (AAP) cells, which are the porcine equivalent of human Schlemm's canal endothelial cells. Methods: AAP endothelial cells were isolated and cultured in physiologic (5% O2) or hyperoxic condition (40% O2) for 14 days to induce cell senescence. miRNA and protein expression profiles of control and senescent cells were analyzed with miRNA microarray and isobaric tags for relative and absolute quantification (iTRAQ), respectively. Results: The miRNA microarray identified 33 differentially expressed miRNAs in sene...
Source: Molecular Vision - March 15, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

A simple and reproducible method for quantification of human tear lipids with ultrahigh-performance liquid chromatography-mass spectrometry.
Conclusions: IPA precipitation is an excellent procedure for extracting lipids from small tear volumes for quantitative large-scale, untargeted lipid profiling, which may be useful for identifying lipid biomarkers in tears from patients with different ocular surface pathologies, allowing personalized therapies to be designed. PMID: 32038094 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 12, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Reduced expression of the nob8 gene does not normalize the distribution or function of mGluR6 in the mouse retina.
Conclusions: Mislocalization of mutant mGluR6 is not normalized by reducing the total mGluR6. Mislocalized mutant mGluR6 does not trigger substantial loss of DBCs. PMID: 32025181 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Potential effects of progranulin and granulins against retinal photoreceptor cell degeneration.
Conclusions: These results suggest that progranulin or its cleavage products, granulins, or both may be therapeutic targets for age-related macular degeneration and other neurodegenerative diseases. PMID: 32025182 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.
Conclusions: In conclusion, our study expands the mutational spectrum for the OPA1 gene and implies targeted NGS as an effective approach for the genetic diagnosis of OA, which might help to improve the clinical diagnosis for patients with OA. PMID: 32025183 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
Conclusions: The newly discovered missense mutation in GUCA1A (p.D144G) might lead to an imbalance of Ca2+ and cGMP homeostasis and eventually, cause a significant variation in adCOD. PMID: 32025184 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - February 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

CHOP is dispensable for lens transparency in wild-type and connexin50 mutant mice.
Conclusions: The results show that CHOP is not required for lens transparency. They also suggest that CHOP is not the critical etiological factor for the cataracts observed in homozygous Cx50D47A lenses, further supporting a major role for connexins in the disease. PMID: 31908399 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - January 9, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Conclusions: Narrow arterioles, a relatively well-preserved macular region, and widespread RPE atrophy resulting in diffuse mottling hypopigmentation in the midperipheral retina may be considered early and common fundus changes specific to SPATA7-associated retinopathy. The fact that similar mutations result in varied phenotypes points to the existence of other potential modifiers of the disease. Uncovering the identity of these modifiers might aid the development of novel treatments. PMID: 31908400 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - January 9, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research

PRKCQ rs4750316 is associated with Vogt-Koyanagi-Harada syndrome in a Han Chinese population.
Conclusions: The PRKCQ rs4750316 polymorphism may be a susceptibility factor for VKH syndrome pathogenesis and extraocular presentations, indicating that PRKCQ may be involved in the pathogenesis and extraocular presentations of VKH syndrome through the T-cell receptor (TCR) signaling pathway. PMID: 31908401 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - January 9, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research