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Advances in Molecular Science and Genomics: Retinal and Choroidal Diseases
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Advances in Molecular Science and Genomics: Retinal and Choroidal Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 5466

Special Issue Editor

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

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 the diagnosis and management of disease. Active research and ground-breaking discoveries in molecular genetics have shed light on the pathogenesis mechanisms of ocular pathology, including retinal and choroidal disease. 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 retinal and choroidal ophthalmic disease. Potential topics include, but are not limited to, the following: molecular aspects and genomics of inherited retinal and choroidal diseases including macular degeneration, neuro-oculo-cutaneous diseases, the phakomatoses, and optic disease pathology.

Prof. Dr. Solmaz Abdolrahimzadeh
Guest Editor

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

  • age-related macular degeneration
  • multimodal imaging
  • diabetic retinopathy
  • retina and choroid in systemic disease, including rare diseases
  • angiogenesis

Published Papers (3 papers)

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Research

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17 pages, 4590 KiB  
Article
Transcriptomic Analysis Reveals That Retinal Neuromodulation Is a Relevant Mechanism in the Neuroprotective Effect of Sitagliptin in an Experimental Model of Diabetic Retinopathy
by Hugo Ramos, Patricia Bogdanov, Rafael Simó, Anna Deàs-Just and Cristina Hernández
Int. J. Mol. Sci. 2023, 24(1), 571; https://doi.org/10.3390/ijms24010571 - 29 Dec 2022
Cited by 1 | Viewed by 1772
Abstract
Synaptic dysfunction and neuronal damage have been extensively associated with diabetic retinopathy (DR). Our group evidenced that chronic hyperglycemia reduces the retinal expression of presynaptic proteins, which are crucial for proper synaptic function. The aim of the study was to explore the effect [...] Read more.
Synaptic dysfunction and neuronal damage have been extensively associated with diabetic retinopathy (DR). Our group evidenced that chronic hyperglycemia reduces the retinal expression of presynaptic proteins, which are crucial for proper synaptic function. The aim of the study was to explore the effect of topically administered sitagliptin, an inhibitor of the enzyme dipeptidyl peptidase-4, on the retinal expression patterns of an experimental model of DR. Transcriptome analysis was performed, comparing the retinas of 10 diabetic (db/db) mice randomly treated with sitagliptin eye drops (10 mg/mL) twice daily and the retinas of 10 additional db/db mice that received vehicle eye drops. Ten non-diabetic mice (db/+) were used as a control group. The Gene Ontology (GO) and Reactome databases were used to perform the gene set enrichment analysis (GSEA) in order to explore the most enriched biological pathways among the groups. The most differentiated genes of these pathways were validated through quantitative RT-PCR. Transcriptome analysis revealed that sitagliptin eye drops have a significant effect on retinal expression patterns and that neurotransmission is the most enriched biological process. Our study evidenced enriched pathways that contain genes involved in membrane trafficking, transmission across chemical synapses, vesicle-mediated transport, neurotransmitter receptors and postsynaptic signal transmission with negative regulation of signaling as a consequence of neuroprotector treatment with sitagliptin. This improves the modulation of the macromolecule biosynthetic process with positive regulation of cell communication, which provides beneficial effects for the neuronal metabolism. This study suggests that topical administration of sitagliptin ameliorates the abnormalities on presynaptic and postsynaptic signal transmission during experimental DR and that this improvement is one of the main mechanisms behind the previously demonstrated beneficial effects. Full article
(This article belongs to the Special Issue Advances in Molecular Science and Genomics: Retinal and Choroidal Diseases)
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Review

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14 pages, 5182 KiB  
Review
The Role of Alpha-Synuclein Deposits in Parkinson’s Disease: A Focus on the Human Retina
by Mariachiara Di Pippo, Serena Fragiotta, Federico Di Staso, Luca Scuderi and Solmaz Abdolrahimzadeh
Int. J. Mol. Sci. 2023, 24(5), 4391; https://doi.org/10.3390/ijms24054391 - 23 Feb 2023
Cited by 5 | Viewed by 1796
Abstract
Parkinson’s disease (PD) is a neurodegenerative condition characterized by the progressive deterioration of dopaminergic neurons in the central and peripheral autonomous system and the intraneuronal cytoplasmic accumulation of misfolded α-synuclein. The clinical features are the classic triad of tremor, rigidity, and bradykinesia and [...] Read more.
Parkinson’s disease (PD) is a neurodegenerative condition characterized by the progressive deterioration of dopaminergic neurons in the central and peripheral autonomous system and the intraneuronal cytoplasmic accumulation of misfolded α-synuclein. The clinical features are the classic triad of tremor, rigidity, and bradykinesia and a set of non-motor symptoms, including visual deficits. The latter seems to arise years before the onset of motor symptoms and reflects the course of brain disease. The retina, by virtue of its similarity to brain tissue, is an excellent site for the analysis of the known histopathological changes of PD that occur in the brain. Numerous studies conducted on animal and human models of PD have shown the presence of α-synuclein in retinal tissue. Spectral-domain optical coherence tomography (SD-OCT) could be a technique that enables the study of these retinal alterations in vivo. The objective of this review is to describe recent evidence on the accumulation of native or modified α-synuclein in the human retina of patients with PD and its effects on the retinal tissue evaluated through SD-OCT. Full article
(This article belongs to the Special Issue Advances in Molecular Science and Genomics: Retinal and Choroidal Diseases)
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12 pages, 1887 KiB  
Case Report
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium
by Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia and Viviana Cordeddu
Int. J. Mol. Sci. 2022, 23(23), 14656; https://doi.org/10.3390/ijms232314656 - 24 Nov 2022
Viewed by 1244
Abstract
Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and variable onset, ranging from birth to adulthood. Genomic sequencing has allowed to identify novel IRD-related [...] Read more.
Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and variable onset, ranging from birth to adulthood. Genomic sequencing has allowed to identify novel IRD-related genes, most of which encode proteins contributing to photoreceptor-cilia biogenesis and/or function. Despite these insights, knowledge gaps hamper a molecular diagnosis in one-third of IRD cases. By exome sequencing in a cohort of molecularly unsolved individuals with IRD, we identified a homozygous splice site variant affecting the transcript processing of TUB, encoding the first member of the Tubby family of bipartite transcription factors, in a sporadic case with retinal dystrophy. A truncating homozygous variant in this gene had previously been reported in a single family with three subjects sharing retinal dystrophy and obesity. The clinical assessment of the present patient documented a slightly increased body mass index and no changes in metabolic markers of obesity, but confirmed the occurrence of retinal detachment. In vitro studies using patient-derived fibroblasts showed the accelerated degradation of the encoded protein and aberrant cilium morphology and biogenesis. These findings definitely link impaired TUB function to retinal dystrophy and provide new data on the clinical characterization of this ultra-rare retinal ciliopathy. Full article
(This article belongs to the Special Issue Advances in Molecular Science and Genomics: Retinal and Choroidal Diseases)
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