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Eye Genetics and Therapies
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Eye Genetics and Therapies

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (30 September 2018) | Viewed by 7734

Special Issue Editors

Dr. Kang Zhang

E-Mail Website
Guest Editor
The Shiley Eye Institute, Institute for Genomic Medicine, and Institute of Engineering in Medicine, University of California San Diego, La Jolla, and State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, and Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510320, China
Interests: eye genetics; eEpigenetics; gene editing and therapy; stem cCells; mMolecular targeted drug; 3D printing of retina; nanotechnology; artificial intelligence
Dr. Ling Zhao

E-Mail Website
Guest Editor
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510275, China
Interests: eye genetics; age-related blindness; epigenetics; molecular targeted drug; gene editing and therapy
Dr. Wenbin Wei

E-Mail
Co-Guest Editor
Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Capital Medical University, Beijing 100069, China
Interests: eye disease; gene therapy; retina; cancer

Special Issue Information

Dear Colleagues,

Despite decades of research, the prevalence of eye diseases is steadily increasing worldwide. Common eye diseases include cataract, glaucoma, myopia, cornea diseases, and retinal diseases. Genetic factors have been shown to play crucial roles in the progress of eye diseases. With the rapid development of next-generation sequencing technology, more and more causal genes and susceptibility genes/loci have been found in eye diseases. However, most of them can only partially account for the pathology of complex eye diseases, especially for age-related blindness. Epigenetics reflects interactions between genetic and environmental factors. In this regard, epigenetics studies will also be a good contribution for a better understanding of the pathogenesis of complex eye diseases.

Recent advance in genetics, epigenetics and stem cell therapy of the eye will allow the identification of high-risk patients for customized intervention and treatment in the near future. Molecular targeted drugs, Gene editing and therapy can provide new treatments for untreatable diseases. Stem cell research has shown great promise in treating blinding degenerative diseases. Moreover, 3D printing of retina and cornea and nanotechnology offer an exciting option. In addition, artificial intelligence (AI) systems have been developed to identify medical diagnoses and treatable diseases using image-based deep learning.

In this Special Issue, we welcome any original research or review articles related to “Eye Genetics and Therapies”. Novel concepts or innovative approaches on these topics are particularly encouraged.

Dr. Kang Zhang
Dr. Ling Zhao
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Eye Genetics
  • Epigenetics
  • Age-related blindness
  • Gene editing and therapy
  • Molecular targeted drug
  • Stem cell therapy
  • 3D printing of retina
  • Nanotechnology
  • Artificial intelligence system

Published Papers (2 papers)

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Research

11 pages, 299 KiB  
Article
Significant Association Between Variant in SGCD and Age-Related Macular Degeneration
by Andric Christopher Perez-Ortiz, Alexandra Luna-Angulo, Juan Carlos Zenteno, Alvaro Rendon, Liliana Guadalupe Cortes-Ballinas, David Jimenez-Collado, Bani Antonio-Aguirre, Martha Janneth Peralta-Ildefonso, Israel Ramírez, Stefany Jacob-Kuttothara and Francisco Javier Estrada-Mena
Genes 2018, 9(10), 467; https://0-doi-org.brum.beds.ac.uk/10.3390/genes9100467 - 25 Sep 2018
Cited by 3 | Viewed by 3446
Abstract
CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes—for instance, in the dystrophin-associated protein complex—might be promising markers for AMD. Here, we performed a case-control study to assess the [...] Read more.
CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes—for instance, in the dystrophin-associated protein complex—might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4–5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06–3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03–3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02–0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities. Full article
(This article belongs to the Special Issue Eye Genetics and Therapies)
17 pages, 5500 KiB  
Article
Human Vascular Endothelial Growth Factor A165 Expression Induces the Mouse Model of Neovascular Age-Related Macular Degeneration
by Emmi Kokki, Tommi Karttunen, Venla Olsson, Kati Kinnunen and Seppo Ylä-Herttuala
Genes 2018, 9(9), 438; https://0-doi-org.brum.beds.ac.uk/10.3390/genes9090438 - 31 Aug 2018
Cited by 4 | Viewed by 3818
Abstract
Vascular endothelial growth factor (VEGF) expression induces age-related macular degeneration (AMD), which is a common vision-threatening disease due to choroidal neovascularization and a fibrovascular membrane. We describe a mouse model of neovascular AMD with the local expression of human VEGF-A165 in the [...] Read more.
Vascular endothelial growth factor (VEGF) expression induces age-related macular degeneration (AMD), which is a common vision-threatening disease due to choroidal neovascularization and a fibrovascular membrane. We describe a mouse model of neovascular AMD with the local expression of human VEGF-A165 in the eye. We use a transgenic mouse in which human VEGF-A165 has been silenced with the loxP-STOP fragment. The choroidal neovascularization and human VEGF-A165 expression in the mouse are induced by subretinal adenoviral Cre gene delivery. Cre gene transfer is compared with adenoviral LacZ gene transfer control. We characterize the AMD phenotype and changes in the vasculature by using fluorescein angiography, optical coherence tomography, and immunohistochemistry. At early time points, mice exhibit increases in retinal thickness (348 ± 114 µm vs. 231 ± 32 µm) and choroidal neovascularization area (12000 ± 15174 µm2 vs. 2169 ± 3495 µm2) compared with the control. At later time points, choroidal neovascularization develops into subretinal fibrovascular membrane. Human VEGF-A165 expression lasts several weeks. In conclusion, the retinas display vascular abnormalities consistent with choroidal neovascularization. Together with immunohistochemical findings, these changes resemble clinical AMD-like ocular pathologies. We conclude that this mouse model of Cre-induced choroidal neovascularization is useful for mimicking the pathogenesis of AMD, studying the effects of human VEGF-A165 in the retina, and evaluating anti-VEGF treatments for choroidal neovascularization. Full article
(This article belongs to the Special Issue Eye Genetics and Therapies)
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