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Ocular Genetics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 10861

Special Issue Editors

Prof. Dr. Paul N. Baird

E-Mail Website
Guest Editor
Department of Surgery| Ophthalmology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, East Melbourne, VIC, Australia
Interests: genetic studies of eye disease; complex and monogenic human genetic disease; gene environmental interactions; artificial intelligence using imaging and parameters in disease detection
Prof. Dr. Bernhard H.F. Weber

E-Mail Website
Guest Editor
Institute of Human Genetics, Universität Regensburg, Regensburg, Germany
Interests: multifactorial retinal degenerations; age-related macular degeneration

Special Issue Information

Dear  Colleagues,

Our understanding of the genetic basis of both monogenic and complex eye diseases has grown enormously over the past few years through advances in high-throughput analysis, extended functional investigations, cell-based studies, gene therapy, and patient-derived cellular and animal modeling. While many genes have been identified in connection with ocular disease, there are still many gaps in our knowledge in determining how these genes lead to eye disease and their subsequent clinical translation. The extent of genetic changes related to monogenic diseases is still not fully explored but will likely be further expanded through their examination in various ethnic groups and populations. In the case of complex disease, multiple genetic variants have been associated with disease, but defining causality is often lacking. Additionally, the understanding of the role of non-coding sequence variants through epigenetic modifications and the role of structural variants is still in its infancy in the context of searching for causes of eye diseases. The Special Issue entitled “Ocular Genetics” will focus on the identification of novel genetic changes and their functional validation through laboratory studies, including the use of pluripotent stem cells and state-of-the-art manipulation of the genome. This will be complemented by reports providing insight into novel mechanisms that may underpin either monogenic or complex eye diseases, as well as innovative treatment options bringing our current knowledge to the patient.

Prof. Dr. Paul N. Baird
Prof. Dr. Bernhard H.F. Weber
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • genetic mechanisms of eye disease
  • epigenetic mechanisms including DNA methylation, histone modification, and non-coding RNA (ncRNA) in eye diseases
  • genotype–phenotype correlations in monogenic and complex eye disease
  • gender and ethnic genetic differences and their impact on eye disease
  • transcription analysis through RNA sequencing and/or single-cell RNA analysis
  • the use of induced pluripotent stem cells and genome-editing tools in determining gene function
  • gene based replacement studies
  • neuroprotection and the ageing eye
  • apoptosis related changes in eye disease

Published Papers (5 papers)

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Research

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13 pages, 4533 KiB  
Article
Key Genes of Immunity Associated with Pterygium and Primary Sjögren’s Syndrome
by Yumeilan Liu, Hao Chen and Hongping Cui
Int. J. Mol. Sci. 2023, 24(3), 2047; https://doi.org/10.3390/ijms24032047 - 20 Jan 2023
Viewed by 1998
Abstract
Pterygium and primary Sjögren’s Syndrome (pSS) share many similarities in clinical symptoms and ocular pathophysiological changes, but their etiology is unclear. To identify the potential genes and pathways related to immunity, two published datasets, GSE2513 containing pterygium information and GSE176510 containing pSS information, [...] Read more.
Pterygium and primary Sjögren’s Syndrome (pSS) share many similarities in clinical symptoms and ocular pathophysiological changes, but their etiology is unclear. To identify the potential genes and pathways related to immunity, two published datasets, GSE2513 containing pterygium information and GSE176510 containing pSS information, were selected from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) of pterygium or pSS patients compared with healthy control conjunctiva, and the common DEGs between them were analyzed. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were conducted for common DEGs. The protein–protein interaction (PPI) network was constructed using the STRING database to find the hub genes, which were verified in clinical samples. There were 14 co-upregulated DEGs. The GO and KEGG analyses showed that these common DEGs were enriched in pathways correlated with virus infection, antigen processing and presentation, nuclear factor-kappa B (NF-κB) and Th17 cell differentiation. The hub genes (IL1R1, ICAM1, IRAK1, S100A9, and S100A8) were selected by PPI construction. In the era of the COVID-19 epidemic, the relationship between virus infection, vaccination, and the incidence of pSS and pterygium growth deserves more attention. Full article
(This article belongs to the Special Issue Ocular Genetics)
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11 pages, 1744 KiB  
Article
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
by Katarina Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent, Elise Héon, Monique Cordonnier, Elfriede De Baere, Salmo Raskin, Mario Teruo Sato, Naoye Shiokawa, Susanne Kohl and Bernd Wissinger
Int. J. Mol. Sci. 2022, 23(12), 6868; https://doi.org/10.3390/ijms23126868 - 20 Jun 2022
Cited by 3 | Viewed by 2143
Abstract
Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. [...] Read more.
Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been associated with dyschromatopsia and cone dysfunction syndromes. Here we report the identification of a novel exon 3 haplotype, G-C-G-A-T-T-G-G (referring to nucleotide variants at cDNA positions c.453, c.457, c.465, c.511, c.513, c.521, c.532, and c.538) deduced to encode a pigment with the amino acid residues L-I-V-V-A at positions p.153, p.171, p.174, p.178, and p.180, in OPN1LW or OPN1MW or both in a series of seven patients from four families with cone dysfunction. Applying minigene assays for all observed exon 3 haplotypes in the patients, we demonstrated that the novel exon 3 haplotype L-I-V-V-A induces a strong but incomplete splicing defect with 3–5% of residual correctly spliced transcripts. Minigene splicing outcomes were similar in HEK293 cells and the human retinoblastoma cell line WERI-Rb1, the latter retaining a cone photoreceptor expression profile including endogenous OPN1LW and OPN1MW gene expression. Patients carrying the novel L-I-V-V-A haplotype presented with a mild form of Blue Cone Monochromacy or Bornholm Eye Disease-like phenotype with reduced visual acuity, reduced cone electroretinography responses, red-green color vision defects, and frequently with severe myopia. Full article
(This article belongs to the Special Issue Ocular Genetics)
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12 pages, 1504 KiB  
Article
Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration
by Tobias Strunz, Michael Pöllmann, Maria-Andreea Gamulescu, Svenja Tamm and Bernhard H. F. Weber
Int. J. Mol. Sci. 2022, 23(11), 6094; https://doi.org/10.3390/ijms23116094 - 29 May 2022
Cited by 4 | Viewed by 1649
Abstract
Anti-VEGF treatment for neovascular age-related macular degeneration (nAMD) has been FDA-approved in 2004, and since then has helped tens of thousands of patients worldwide to preserve vision. Still, treatment responses vary widely, emphasizing the need for genetic biomarkers to robustly separate responders from [...] Read more.
Anti-VEGF treatment for neovascular age-related macular degeneration (nAMD) has been FDA-approved in 2004, and since then has helped tens of thousands of patients worldwide to preserve vision. Still, treatment responses vary widely, emphasizing the need for genetic biomarkers to robustly separate responders from non-responders. Here, we report the findings of an observational study compromising 179 treatment-naïve nAMD patients and their reaction to treatment after three monthly doses of anti-VEGF antibodies. We show that established criteria of treatment response such as visual acuity and central retinal thickness successfully divides our cohort into 128 responders and 51 non-responders. Nevertheless, retinal thickness around the fovea revealed significant reaction to treatment even in the formally categorized non-responders. To elucidate genetic effects underlying our criteria, we conducted an undirected genome-wide association study followed by a directed replication study of 30 previously reported genetic variants. Remarkably, both approaches failed to result in significant findings, suggesting study-specific effects were confounding the present and previous discovery studies. Of note, all studies so far are greatly underpowered, hampering interpretation of genetic findings. In consequence, we highlight the need for an extensive phenotyping study with sample sizes exceeding at least 15,000 to reliably assess anti-VEGF treatment responses in nAMD. Full article
(This article belongs to the Special Issue Ocular Genetics)
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Review

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21 pages, 1210 KiB  
Review
Induced Pluripotent Stem Cells and Genome-Editing Tools in Determining Gene Function and Therapy for Inherited Retinal Disorders
by Daniela Benati, Amy Leung, Pedro Perdigao, Vasileios Toulis, Jacqueline van der Spuy and Alessandra Recchia
Int. J. Mol. Sci. 2022, 23(23), 15276; https://doi.org/10.3390/ijms232315276 - 03 Dec 2022
Cited by 1 | Viewed by 1898
Abstract
Inherited retinal disorders (IRDs) affect millions of people worldwide and are a major cause of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation approaches have been widely investigated and proposed. Among gene therapies for retinal degenerative diseases, the fast-evolving genome-editing CRISPR/Cas [...] Read more.
Inherited retinal disorders (IRDs) affect millions of people worldwide and are a major cause of irreversible blindness. Therapies based on drugs, gene augmentation or transplantation approaches have been widely investigated and proposed. Among gene therapies for retinal degenerative diseases, the fast-evolving genome-editing CRISPR/Cas technology has emerged as a new potential treatment. The CRISPR/Cas system has been developed as a powerful genome-editing tool in ophthalmic studies and has been applied not only to gain proof of principle for gene therapies in vivo, but has also been extensively used in basic research to model diseases-in-a-dish. Indeed, the CRISPR/Cas technology has been exploited to genetically modify human induced pluripotent stem cells (iPSCs) to model retinal disorders in vitro, to test in vitro drugs and therapies and to provide a cell source for autologous transplantation. In this review, we will focus on the technological advances in iPSC-based cellular reprogramming and gene editing technologies to create human in vitro models that accurately recapitulate IRD mechanisms towards the development of treatments for retinal degenerative diseases. Full article
(This article belongs to the Special Issue Ocular Genetics)
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17 pages, 1905 KiB  
Review
Choroidal Vasculature Changes in Age-Related Macular Degeneration: From a Molecular to a Clinical Perspective
by Serena Fragiotta, Luca Scuderi, Clemente Maria Iodice, Daria Rullo, Mariachiara Di Pippo, Elisa Maugliani and Solmaz Abdolrahimzadeh
Int. J. Mol. Sci. 2022, 23(19), 12010; https://doi.org/10.3390/ijms231912010 - 09 Oct 2022
Cited by 10 | Viewed by 2253
Abstract
The contribution of choroidal vasculature to the pathogenesis of age-related macular degeneration (AMD) has been long debated. The present narrative review aims to discuss the primary molecular and choroidal structural changes occurring with aging and AMD with a brief overview of the principal [...] Read more.
The contribution of choroidal vasculature to the pathogenesis of age-related macular degeneration (AMD) has been long debated. The present narrative review aims to discuss the primary molecular and choroidal structural changes occurring with aging and AMD with a brief overview of the principal multimodal imaging modalities and techniques that enable the optimal in vivo visualization of choroidal modifications. The molecular aspects that target the choroid in AMD mainly involve human leukocyte antigen (HLA) expression, complement dysregulation, leukocyte interaction at Bruch’s membrane, and mast cell infiltration of the choroid. A mechanistic link between high-risk genetic loci for AMD and mast cell recruitment has also been recently demonstrated. Recent advances in multimodal imaging allow more detailed visualization of choroidal structure, identifying alterations that may expand our comprehension of aging and AMD development. Full article
(This article belongs to the Special Issue Ocular Genetics)
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