Special Issue "Molecular and Cellular Basis of Macular Degenerations"

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: 15 December 2020.

Special Issue Editor

Dr. Thierry Leveillard
Website
Guest Editor
Institut de la Vision: Department of genetics Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, F-75012 Paris, France
Interests: therapies of retinal degeneration; rod-derived cone viability factor; metabolic and redox signaling in the retina

Special Issue Information

Dear Colleagues,

The macula at the center of the retina of primates contains the fovea in its middle, an area where cone photoreceptors are highly concentrated, with exclusion of the rod. Daylight vision, color perception, and visual acuity are mediated by the function of cones. Any affection of the macula leads to central vision impairment. Macular degenerations are multiple and encompass a large number of rare, inherited diseases and a very common form of aging disease—age-related macular degeneration. Other maculopathies linked to different conditions also contribute to vision loss.

This Special Issue will focus on recent studies of this complex group of diseases and highlight the current knowledge in the field regarding these diseases’ underlying molecular and cellular mechanisms. We hope that the combination of original papers and focused reviews will provide a useful resource for all the scientific community.

Dr. Thierry Leveillard
Guest Editor

Manuscript Submission Information

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Keywords

  • visual impairment
  • age-related macular degeneration
  • maculopathies

Published Papers (4 papers)

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Research

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Open AccessArticle
Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD)
Cells 2020, 9(10), 2257; https://doi.org/10.3390/cells9102257 - 08 Oct 2020
Abstract
Genome-wide association studies (GWAS) have identified an abundance of genetic loci associated with complex traits and diseases. In contrast, in-depth characterization of an individual genetic signal is rarely available. Here, we focus on the genetic variant rs2168518 in 15q24.1 previously associated with age-related [...] Read more.
Genome-wide association studies (GWAS) have identified an abundance of genetic loci associated with complex traits and diseases. In contrast, in-depth characterization of an individual genetic signal is rarely available. Here, we focus on the genetic variant rs2168518 in 15q24.1 previously associated with age-related macular degeneration (AMD), but only with suggestive evidence. In a two-step procedure, we initially conducted a series of association analyses to further delineate the association of rs2168518 with AMD but also with other complex phenotypes by using large independent datasets from the International AMD Genomics Consortium (IAMDGC) and the UK Biobank. We then performed a functional annotation with reference to gene expression regulation based on data from the Genotype-Tissue Expression (GTEx) project and RegulomeDB. Association analysis revealed a gender-specific association with male AMD patients and an association predominantly with choroidal neovascularization. Further, the AMD association colocalizes with an association signal of several blood pressure-related phenotypes and with the gene expression regulation of CYP1A1, a member of the cytochrome P450 superfamily of monooxygenases. Functional annotation revealed altered transcription factor (TF) binding sites for gender-specific TFs, including SOX9 and SRY. In conclusion, the pleiotropic 15q24.1 association signal suggests a shared mechanism between blood pressure regulation and choroidal neovascularization with a potential involvement of CYP1A1. Full article
(This article belongs to the Special Issue Molecular and Cellular Basis of Macular Degenerations)
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Open AccessArticle
Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish
Cells 2020, 9(10), 2214; https://doi.org/10.3390/cells9102214 - 30 Sep 2020
Abstract
Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in RP1L1 lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa. RP1L1 is a component of the photoreceptor axoneme, the [...] Read more.
Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in RP1L1 lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa. RP1L1 is a component of the photoreceptor axoneme, the backbone structure of the photoreceptor’s light-sensing outer segment. We generated an rp1l1 zebrafish mutant using CRISPR/Cas9 genome editing. Mutant animals had progressive photoreceptor functional defects as determined by electrophysiological assessment. Optical coherence tomography showed gaps in the photoreceptor layer, disrupted photoreceptor mosaics, and thinner retinas. Mutant retinas had disorganized photoreceptor outer segments and lipid-rich subretinal drusenoid deposits between the photoreceptors and retinal pigment epithelium. Our mutant is a novel model of RP1L1-associated photoreceptor disease and the first zebrafish model of photoreceptor degeneration with reported subretinal drusenoid deposits, a feature of age-related macular degeneration. Full article
(This article belongs to the Special Issue Molecular and Cellular Basis of Macular Degenerations)
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Review

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Open AccessReview
Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration
Cells 2020, 9(10), 2267; https://doi.org/10.3390/cells9102267 - 10 Oct 2020
Cited by 1
Abstract
Over the last 15 years, genome-wide association studies (GWAS) have greatly advanced our understanding of the genetic landscape of complex phenotypes. Nevertheless, causal interpretations of GWAS data are challenging but crucial to understand underlying mechanisms and pathologies. In this review, we explore to [...] Read more.
Over the last 15 years, genome-wide association studies (GWAS) have greatly advanced our understanding of the genetic landscape of complex phenotypes. Nevertheless, causal interpretations of GWAS data are challenging but crucial to understand underlying mechanisms and pathologies. In this review, we explore to what extend the research community follows up on GWAS data. We have traced the scientific activities responding to the two largest GWAS conducted on age-related macular degeneration (AMD) so far. Altogether 703 articles were manually categorized according to their study type. This demonstrates that follow-up studies mainly involve “Review articles” (33%) or “Genetic association studies” (33%), while 19% of publications report on findings from experimental work. It is striking to note that only three of 16 AMD-associated loci described de novo in 2016 were examined in the four-year follow-up period after publication. A comparative analysis of five studies on gene expression regulation in AMD-associated loci revealed consistent gene candidates for 15 of these loci. Our random survey highlights the fact that functional follow-up studies on GWAS results are still in its early stages hampering a significant refinement of the vast association data and thus a more accurate insight into mechanisms and pathways. Full article
(This article belongs to the Special Issue Molecular and Cellular Basis of Macular Degenerations)
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Open AccessReview
A G-Protein Coupled Receptor and Macular Degeneration
Cells 2020, 9(4), 910; https://doi.org/10.3390/cells9040910 - 08 Apr 2020
Abstract
Age-related macular degeneration (AMD) is a leading cause of irreversible blindness in the world. The risk of AMD increases with age and is most common among the white population. Here, we discuss the convergence of factors related to race, pigmentation, and susceptibility to [...] Read more.
Age-related macular degeneration (AMD) is a leading cause of irreversible blindness in the world. The risk of AMD increases with age and is most common among the white population. Here, we discuss the convergence of factors related to race, pigmentation, and susceptibility to AMD, where the primary defect occurs in retinal support cells, the retinal pigment epithelium (RPE). We explore whether the observed racial bias in AMD incidence is related to innate differences in the basal level of pigmentation between races, and whether the pigmentation pathway activity in the RPE might protect from retinal degeneration. More specifically, we explore whether the downstream signaling activity of GPR143, a G-protein coupled receptor in the pigmentation pathway, might underly the racial bias of AMD and be a target to prevent the disease. Lastly, we summarize the past findings of a large retrospective study that investigated the relationship between the stimulation of GPR143 with L-DOPA, the pigmentation pathway, and AMD, to potentially help develop new ways to prevent or treat AMD. The reader of this review will come to understand the racial bias of AMD, which is related to the function of the RPE. Full article
(This article belongs to the Special Issue Molecular and Cellular Basis of Macular Degenerations)
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