Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
7.8
5.6
Journals
IJMS
Special Issues
Frontiers of Molecular Science and Genomic in Ophthalmic Disease
ijms-logo
Submit to IJMS Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Frontiers of Molecular Science and Genomic in Ophthalmic Disease

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 (31 March 2022) | Viewed by 8271

Special Issue Editors

Prof. Dr. Solmaz Abdolrahimzadeh

E-Mail Website
Guest Editor
Ophthalmology Unit, Department of Neurosciences, Mental Health and Sense Organs (NESMOS), Faculty of Medicine and Psychology, University of Rome Sapienza, St. Andrea Hospital, Via di Grottarossa 1035/1039, 00189 Rome, Italy
Interests: age-related macular degeneration; multimodal imaging; diabetic retinopathy; retina and choroid in systemic disease, including rare diseases; angiogenesis
Special Issues, Collections and Topics in MDPI journals
Dr. Serena Fragiotta

E-Mail Website
Guest Editor
NESMOS Department, Ophthalmology Unit, S. Andrea Hospital, University of Rome "La Sapienza", 00189 Rome, Italy
Interests: retina; age-related macular degeneration; genetic; optic neuropathies

Special Issue Information

Dear Colleagues,

Molecular science has become a discipline that has a profound impact in medicine including the field of ophthalmology. Molecular advances now deeply influence diagnosis and management of disease. Active research and ground-breaking discoveries in molecular genetics have shed light on the pathogenesis mechanisms of ocular pathology. Furthermore, classification systems have improved and led to better prognostic evaluation. Molecular technology using gene mapping and isolation is fundamental in the conclusive diagnosis of numerous ophthalmic conditions with multidisciplinary aspects.

This special issue is focused on frontiers of molecular science and genomics in ophthalmic disease. Potential topics include, but are not limited, to the following: molecular aspects and genomics of neuro-oculo-cutaneous diseases, the phakomatoses, optic disease pathology, inherited retinal and choroidal diseases including macular degeneration.

Prof. Dr. Solmaz Abdolrahimzadeh
Dr. Serena Fragiotta
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

  • molecular science in ophthalmology
  • multimodal imaging in ophthalmology, neuro-oculo-cutaneous diseases
  • phakomatoses
  • retinal and choroidal biomarkers

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

21 pages, 3780 KiB  
Article
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
by Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov and Claire-Marie Dhaenens
Int. J. Mol. Sci. 2022, 23(8), 4294; https://doi.org/10.3390/ijms23084294 - 13 Apr 2022
Cited by 4 | Viewed by 1943
Abstract
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, [...] Read more.
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel. Among them were one deep intronic variant c.998+1669A>G, one large deletion encompassing exon 9 and 10, and a silent change c.750A>G. Transcript analysis performed on patients’ lymphoblastoid cell lines revealed the creation of a donor splice site by c.998+1669A>G, resulting in a 140 bp pseudoexon insertion in intron 10. Variant c.750A>G produced exon 8 skipping. In silico and in cellulo studies of these variants allowed us to assign the pathogenic effect, and showed that the combination of at least one severe variant with a moderate one leads to isolated retinal dystrophy, whereas the combination in trans of two severe variants is responsible for early onset severe retinal dystrophy in the context of late-infantile neuronal ceroid lipofuscinosis. Full article
(This article belongs to the Special Issue Frontiers of Molecular Science and Genomic in Ophthalmic Disease)
►▼ Show Figures

Figure 1

Review

Jump to: Research

10 pages, 998 KiB  
Review
The Role of the Choroid in Stargardt Disease
by Solmaz Abdolrahimzadeh, Martina Formisano, Mariachiara Di Pippo, Manuel Lodesani and Andrew John Lotery
Int. J. Mol. Sci. 2022, 23(14), 7607; https://doi.org/10.3390/ijms23147607 - 09 Jul 2022
Cited by 2 | Viewed by 1753
Abstract
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because [...] Read more.
Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease. Full article
(This article belongs to the Special Issue Frontiers of Molecular Science and Genomic in Ophthalmic Disease)
►▼ Show Figures

Figure 1

13 pages, 419 KiB  
Review
Epigenetic Mechanisms in Type 2 Diabetes Retinopathy: A Systematic Review
by Agostino Milluzzo, Andrea Maugeri, Martina Barchitta, Laura Sciacca and Antonella Agodi
Int. J. Mol. Sci. 2021, 22(19), 10502; https://doi.org/10.3390/ijms221910502 - 28 Sep 2021
Cited by 32 | Viewed by 3504
Abstract
Diabetic retinopathy (DR) is one of the main causes of vision loss in middle-aged economically active people. Modifiable (i.e., hyperglycaemia, hypertension, hyperlipidaemia, obesity, and cigarette smoke) and non-modifiable factors (i.e., duration of diabetes, puberty, pregnancy and genetic susceptibility) are involved in the development [...] Read more.
Diabetic retinopathy (DR) is one of the main causes of vision loss in middle-aged economically active people. Modifiable (i.e., hyperglycaemia, hypertension, hyperlipidaemia, obesity, and cigarette smoke) and non-modifiable factors (i.e., duration of diabetes, puberty, pregnancy and genetic susceptibility) are involved in the development of DR. Epigenetic mechanisms, modulating the oxidative stress, inflammation, apoptosis, and aging, could influence the course of DR. Herein, we conducted a systematic review of observational studies investigating how epigenetics affects type 2 diabetes retinopathy (T2DR). A total of 23 epidemiological studies were included: 14 studies focused on miRNA, 4 studies on lnc-RNA, one study on both miRNA and lnc-RNA, and 4 studies on global or gene-specific DNA methylation. A direct relation between the dysregulation of miR-21, miR-93, and miR-221 and FPG, HbA1c, and HOMA-IR was identified. A panel of three miRNAs (hsa-let-7a-5p, hsa-miR-novel-chr5_15976, and hsa-miR-28-3p) demonstrated a good sensitivity and specificity for predicting T2DR. Little evidence is available regarding the possible role of the long non-coding MALAT1 dysregulation and MTHFR gene promoter hypermethylation. Despite these initial, encouraging findings potentially suggesting a role of epigenetics in T2DR, the use in clinical practice for the diagnosis and staging of this complication encounters several difficulties and further targeted investigations are still necessary. Full article
(This article belongs to the Special Issue Frontiers of Molecular Science and Genomic in Ophthalmic Disease)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop