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Biomedicines
Special Issues
Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies
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Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 6738

Special Issue Editor

Dr. José Martín-Nieto

E-Mail Website
Guest Editor
Departamento de Fisiología, Genética y Microbiología, Facultad de Ciencias, Universidad de Alicante, 03080 Alicante, Spain
Interests: human and mammalian genetics; gene and protein expression; retina; genetic diseases; molecular neurobiology

Special Issue Information

Dear Colleagues,

Inherited retinal diseases (IRDs) constitute a large group of genetically and clinically heterogeneous disorders characterized by photoreceptor degeneration or dysfunction, with the ensuing degeneration of the retina ultimately leading to the loss of visual function and legal blindness. These disorders collectively affect 1 in ca. 3,000 people and are caused by pathogenic variants of genes encoding proteins that are critical for retinal function. To date, over 300 genes and loci have been associated with the pathogenesis of IRDs; however, a significant fraction of people suffering from these diseases in the world remain undiagnosed, and at this date they are uncurable. In this context, the accurate genotyping of individuals with IRDs is essential for patient management and the identification of suitable candidates for gene therapies.

The analysis of IRDs represents a unique opportunity towards increasing understanding of the pathophysiological mechanisms underlying retinal degeneration and the development of new therapeutic approaches. The large number of genes that have so far been identified as IRD-causative are paving the way for personalized diagnoses and precision therapies in the clinic. This Biomedicines Special Issue invites contributions dealing with the identification of new genes and variants associated with these ocular disorders, in addition to the application of genetic and genomic technologies to their personalized diagnostics. In this context, recent reports dealing with patient genotyping (NGS, gene panels, etc.) and management will also be acknowledged. In addition, this Special Issue will welcome articles that shed light on the molecular and cellular mechanisms of genetic retinal pathogenesis, including the functions of morbid genes and their protein products in retinal health and disease. Finally, the latest therapies (pharmacological, gene-specific, stem-cell-based, etc.) for IRDs that are under investigation and development, including clinical trials, will also be covered.

Dr. José Martín-Nieto
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. Biomedicines 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

  • blindness
  • gene and protein function
  • pathogenesis
  • personalized diagnosis
  • precision therapy
  • retina
  • retinal degeneration.

Published Papers (4 papers)

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Research

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12 pages, 4725 KiB  
Article
Identification and Characterization of Retinitis Pigmentosa in a Novel Mouse Model Caused by PDE6B-T592I
by Chun-Hong Xia, Haiquan Liu, Mei Li, Haiwei Zhang, Xinfang Xing and Xiaohua Gong
Biomedicines 2023, 11(12), 3173; https://doi.org/10.3390/biomedicines11123173 - 29 Nov 2023
Viewed by 954
Abstract
The cGMP-phosphodiesterase 6 beta subunit (PDE6B) is an essential component in the phototransduction pathway for light responses in photoreceptor cells. PDE6B gene mutations cause the death of rod photoreceptors, named as hereditary retinitis pigmentosa (RP) in humans and retinal degeneration (RD) in rodents. [...] Read more.
The cGMP-phosphodiesterase 6 beta subunit (PDE6B) is an essential component in the phototransduction pathway for light responses in photoreceptor cells. PDE6B gene mutations cause the death of rod photoreceptors, named as hereditary retinitis pigmentosa (RP) in humans and retinal degeneration (RD) in rodents. Here, we report a new RD model, identified from a phenotypic screen of N-ethyl-N-nitrosourea (ENU)-induced mutant mice, which displays retinal degeneration caused by a point mutation in the Pde6b gene that results in PDE6B-T592I mutant protein. The homozygous mutant mice show an extensive loss of rod photoreceptors at the age of 3 weeks; unexpectedly, the loss of rod photoreceptors can be partly rescued by dark rearing. Thus, this RD mutant model displays a light-dependent loss of rod photoreceptors. Both western blot and immunostaining results show very low level of mutant PDE6B-T592I protein in the retina. Structure modeling suggests that the T592I mutation probably affects the function and stability of PDE6B protein by changing intramolecular interactions. We further demonstrate that the expression of wild-type PDE6B delivered by subretinally injected adeno-associated virus (rAAV) prevents photoreceptor cell death in this RD model in vivo. The PDE6B-T592I mutant is, therefore, a valuable RD model for evaluating rAAV-mediated treatment and for investigating the molecular mechanism of light-dependent rod photoreceptor cell death that is related to impaired PDE6B function. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies)
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17 pages, 19979 KiB  
Article
Neovascular Progression and Retinal Dysfunction in the Laser-Induced Choroidal Neovascularization Mouse Model
by Anna Salas, Anna Badia, Laura Fontrodona, Miguel Zapata, José García-Arumí and Anna Duarri
Biomedicines 2023, 11(9), 2445; https://doi.org/10.3390/biomedicines11092445 - 02 Sep 2023
Viewed by 2196
Abstract
The mouse model of laser-induced choroidal neovascularization (LI-CNV) has been widely used to study neovascular age-related macular degeneration; however, it still lacks a comprehensive characterization. Here, CNV was induced in the eyes of 12-week-old C57BL/6J male mice by argon laser irradiation. We studied [...] Read more.
The mouse model of laser-induced choroidal neovascularization (LI-CNV) has been widely used to study neovascular age-related macular degeneration; however, it still lacks a comprehensive characterization. Here, CNV was induced in the eyes of 12-week-old C57BL/6J male mice by argon laser irradiation. We studied the CNV lesion progression of an LI-CNV mouse cohort by using multimodal imaging (color fundus, optical coherence tomography (OCT), and fluorescence angiography, focal electroretinography features for 14 days, and related cytokines, angiogenic factors, and reactive gliosis for 5 days. CNV lesions involving the rupture of the Bruch’s membrane were confirmed using funduscopy and OCT after laser photocoagulation. During the initial stage, from the CNV induction until day 7, CNV lesions presented leakage observed by using fluorescence angiography and a typical hyperreflective area with cell infiltration, subretinal leakage, and degeneration of photoreceptors observed through OCT. This correlated with decreased retinal responses to light. Moreover, inflammatory and angiogenic markers were reduced to basal levels in the first 5 days of CNV progression. In contrast, reactive gliosis and the VEGF expression in retinal sections were sustained, with infiltration of endothelial cells in the subretinal space. In the second stage, between days 7 and 14 post-induction, we observed stabilization of the CNV lesions, a hyperfluorescent area corresponding to the formation of fibrosis, and a partial rescue of retinal function. These findings suggest that the LI-CNV lesion development goes through an acute phase during the first seven days following induction, and then the CNV lesion stabilizes. According to these results, this model is suitable for screening anti-inflammatory and anti-angiogenic drugs in the early stages of LI-CNV. At the same time, it is more convenient for screening anti-fibrotic compounds in the later stages. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies)
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Review

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23 pages, 2666 KiB  
Review
The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies
by Valentina Becherucci, Giacomo Maria Bacci, Elisa Marziali, Andrea Sodi, Franco Bambi and Roberto Caputo
Biomedicines 2023, 11(10), 2656; https://doi.org/10.3390/biomedicines11102656 - 28 Sep 2023
Cited by 4 | Viewed by 1748
Abstract
Retinitis pigmentosa, defined more properly as cone–rod dystrophy, is a paradigm of inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in the worldwide population and one of the main causes of low vision in the pediatric and elderly [...] Read more.
Retinitis pigmentosa, defined more properly as cone–rod dystrophy, is a paradigm of inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in the worldwide population and one of the main causes of low vision in the pediatric and elderly age groups. Advancements in and the understanding of molecular biology and gene-editing technologies have raised interest in laying the foundation for new therapeutic strategies for rare diseases. As a consequence, new possibilities for clinicians and patients are arising due to the feasibility of treating such a devastating disorder, reducing its complications. The scope of this review focuses on the pathomolecular mechanisms underlying RP better to understand the prospects of its treatment using innovative approaches. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies)
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Other

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12 pages, 17139 KiB  
Case Report
Paramacular Choriocapillaris Atrophy
by Ivona Bućan and Kajo Bućan
Biomedicines 2023, 11(7), 2074; https://doi.org/10.3390/biomedicines11072074 - 24 Jul 2023
Viewed by 1031
Abstract
In this paper, a review of a rare case of paramacular choriocapillaris atrophy with a foveal-sparing phenotype is carried out. The 73-year-old patient stated that they had impaired vision and photophobia in both eyes during a regular ophthalmological examination, denying visual field defects [...] Read more.
In this paper, a review of a rare case of paramacular choriocapillaris atrophy with a foveal-sparing phenotype is carried out. The 73-year-old patient stated that they had impaired vision and photophobia in both eyes during a regular ophthalmological examination, denying visual field defects and night blindness. A complete ophthalmological examination (best-corrected visual acuity, applanation tonometry, and biomicroscopy of anterior and posterior segments) and diagnostic tests, including fundus autofluorescence, fluorescein angiography, optical coherence tomography with angiography, computerized perimetry, and electroretinography, were carried out. The underlying genetic pattern is unclear, which points to paramacular choriocapillaris atrophy. According to recent research on histology, pathologies categorized as regional choroidal dystrophies are caused by alterations at the level of the retinal pigment epithelium. Despite the unresolved etiopathogenetic mechanism of foveal sparing in central choroidal and retinal dystrophies, a highly variable disease phenotype with spared fovea and central visual acuity present in a variety of heterogeneous dystrophies supports a disease-independent mechanism that allows the survival of foveal cones. The related preservation of BCVA has implications for individual prognosis and influences how treatment trials for choroidal and retinal dystrophies are designed. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: From Pathomolecular Mechanisms to Therapeutic Strategies)
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