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Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics

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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: 30 May 2024 | Viewed by 6077

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Special Issue Editors

Dr. Luigi Donato

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Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98125 Messina, Italy
Interests: genetics, genomics; cellular biology; bioinformatics; next-generation sequencing (NGS); oxidative stress; inherited retinal dystrophies (IRDs); retinitis pigmentosa (RP); cerebral cavernous malformations (CCMs); trimethylaminuria (TMAU)
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Dr. Simona Alibrandi

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Department of Biomedical, Dental Sciences and Morphofunctional Images, University of Messina, Messina, Italy
Interests: PCR; gel electrophoresis; DNA; DNA extraction; DNA sequencing electrophoresis; DNA gel electrophoresis; DNA amplification; agarose gel electrophoresis; DNA sequence analysis

Special Issue Information

Dear Colleagues,

We are pleased to invite you to the present Special Issue, entitled “Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics”. Many studies have been conducted on the molecular aspects of retinal diseases, especially inherited ones. However, even if the main cellular event determining the onset of retinal pathologies is photoreceptor death, the molecular genetic causes remain unusually complicated. Generally, photoreceptor cells survival is ensured by the retinal pigment epithelium (RPE), which provides many vital functions such as the phagocytosis of photoreceptor outer segments, metabolite transport, photoreceptor excitability, regulation of the visual cycle, the secretion of growth factors, and oxidative stress protection. RPE degeneration alters cell cycle, vesicular trafficking, cell migration, endoplasmic reticulum stress, chaperones activity, small GTPase signaling, retinoic acid cycle, microvascular integrity, chromosome stability, circadian rhythms, fatty acids metabolism, synapses integrity, and retinal cells rescue. In spite of all these data, very little is known about other molecular mechanisms involving not only RPE, but also the neuronal layers of the retina.

This Special Issue aims to discuss the most intriguing and challenging aspects of retinal diseases and macular degeneration etiopathology, highlighting the central role of cellular biology and molecular genetics alterations in the onset and progression of such a group of pathologies, analyzing the extraordinary complexity of the multileveled molecular mechanisms and the current strategies adopted to protect the retina.

Dr. Luigi Donato
Dr. Simona Alibrandi
Guest Editors

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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.

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Keywords

retinal dystrophies
omics sciences
neurophysiology
molecular pathways
genetics and biology of retinal diseases

Published Papers (4 papers)

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Research

13 pages, 4411 KiB

Open AccessArticle

Role of PKN1 in Retinal Cell Type Formation

by Magdalena Brunner, Luisa Lang, Louisa Künkel, Dido Weber, Motahareh Solina Safari, Gabriele Baier-Bitterlich and Stephanie Zur Nedden

Int. J. Mol. Sci. 2024, 25(5), 2848; https://doi.org/10.3390/ijms25052848 - 29 Feb 2024

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Abstract

We recently identified PKN1 as a developmentally active gatekeeper of the transcription factor neuronal differentiation-2 (NeuroD2) in several brain areas. Since NeuroD2 plays an important role in amacrine cell (AC) and retinal ganglion cell (RGC) type formation, we aimed to study the expression of NeuroD2 in the postnatal retina of WT and Pkn1^−/− animals, with a particular focus on these two cell types. We show that PKN1 is broadly expressed in the retina and that the gross retinal structure is not different between both genotypes. Postnatal retinal NeuroD2 levels were elevated upon Pkn1 knockout, with Pkn1^−/− retinae showing more NeuroD2⁺ cells in the lower portion of the inner nuclear layer. Accordingly, immunohistochemical analysis revealed an increased amount of AC in postnatal and adult Pkn1^−/− retinae. There were no differences in horizontal cell, bipolar cell, glial cell and RGC numbers, nor defective axon guidance to the optic chiasm or tract upon Pkn1 knockout. Interestingly, we did, however, see a specific reduction in SMI-32⁺ α-RGC in Pkn1^−/− retinae. These results suggest that PKN1 is important for retinal cell type formation and validate PKN1 for future studies focusing on AC and α-RGC specification and development. Full article

(This article belongs to the Special Issue Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics)

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15 pages, 3847 KiB

Open AccessArticle

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort

by Richard Sather III, Jacie Ihinger, Michael Simmons, Glenn P. Lobo and Sandra R. Montezuma

Int. J. Mol. Sci. 2024, 25(2), 1253; https://doi.org/10.3390/ijms25021253 - 19 Jan 2024

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Abstract

This retrospective study examines the clinical characteristics and underlying genetic variants that exist in a Leber congenital amaurosis (LCA) patient cohort evaluated at the inherited retinal disease (IRD) clinic at the University of Minnesota (UMN)/M Health System. Our LCA cohort consisted of 33 non-syndromic patients and one patient with Joubert syndrome. We report their relevant history, clinical findings, and genetic testing results. We monitored disease presentation utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF). Electroretinogram testing (ERG) was performed in patients when clinically indicated. Next-generation sequencing (NGS) and genetic counseling was offered to all evaluated patients. Advanced photoreceptor loss was noted in 85.7% of the subjects. All patients who underwent FAF had findings of either a ring of macular hypo/hyper AF or peripheral hypo-AF. All patients had abnormal ERG findings. A diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. Two patients in our cohort qualified for Luxturna^® and both received treatment at the time of this study. These data will help IRD specialists to understand the genetic variants and clinical presentations that characterize our patient population in the Midwest region of the United States. Full article

(This article belongs to the Special Issue Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics)

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13 pages, 2738 KiB

Open AccessArticle

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

by Richard Sather III, Jacie Ihinger, Michael Simmons, Tahsin Khundkar, Glenn P. Lobo and Sandra R. Montezuma

Int. J. Mol. Sci. 2023, 24(13), 10895; https://doi.org/10.3390/ijms241310895 - 30 Jun 2023

Cited by 2 | Viewed by 1945

Abstract

This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Causative pathogenic and likely pathogenic variants were recorded. Disease status was further characterized by ocular coherence tomography (OCT) and fundus autofluorescence (AF). Our study cohort included a total of 199 patients evaluated between 1 May 2015–5 August 2022. The cohort included 151 patients with non-syndromic RP and 48 with syndromic RP. Presenting symptoms included nyctalopia (85.4%) photosensitivity/hemeralopia (60.5%), and decreased color vision (55.8%). On average, 38.9% had visual acuity of worse than 20/80. Ellipsoid zone band width on OCT scan of less than 1500 μm was noted in 73.6%. Ninety-nine percent had fundus autofluorescence (AF) findings of a hypo- or hyper-fluorescent ring within the macula and/or peripheral hypo-AF. Of the 127 subjects who underwent genetic testing, a diagnostic pathogenic and/or likely pathogenic variant was identified in 67 (52.8%) patients—33.3% of syndromic RP and 66.6% of non-syndromic RP patients had a diagnostic gene variant identified. It was found that 23.6% of the cohort had negative genetic testing results or only variants of uncertain significance identified, which were deemed as non-diagnostic. We concluded that patients with RP often present with advanced disease. In our population, next generation sequencing panels identified a genotype consistent with the exam in just over half the patients. Additional work will be needed to identify the underlying genetic etiology for the remainder. Full article

(This article belongs to the Special Issue Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics)

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15 pages, 2358 KiB

Open AccessArticle

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

by Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus and Jean Muller

Int. J. Mol. Sci. 2023, 24(10), 8729; https://doi.org/10.3390/ijms24108729 - 13 May 2023

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Abstract

Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy that affects multiple organs, leading to retinitis pigmentosa, polydactyly, obesity, renal anomalies, cognitive impairment, and hypogonadism. Until now, biallelic pathogenic variants have been identified in at least 24 genes delineating the genetic heterogeneity of BBS. Among those, BBS5 is a minor contributor to the mutation load and is one of the eight subunits forming the BBSome, a protein complex implied in protein trafficking within the cilia. This study reports on a European BBS5 patient with a severe BBS phenotype. Genetic analysis was performed using multiple next-generation sequencing (NGS) tests (targeted exome, TES and whole exome, WES), and biallelic pathogenic variants could only be identified using whole-genome sequencing (WGS), including a previously missed large deletion of the first exons. Despite the absence of family samples, the biallelic status of the variants was confirmed. The BBS5 protein’s impact was confirmed on the patient’s cells (presence/absence and size of the cilium) and ciliary function (Sonic Hedgehog pathway). This study highlights the importance of WGS and the challenge of reliable structural variant detection in patients’ genetic explorations as well as functional tests to assess a variant’s pathogenicity. Full article

(This article belongs to the Special Issue Retinal Diseases and Macular Degeneration: Cell Biology and Molecular Genetics)

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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Planned Paper I：NoGo in endothelial precursor cells in Oxygen-Induced Retinopathy-Prof. Chemtob Sylvain

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