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Towards an Understanding of Retinal Diseases and Novel Treatment 3.0

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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: 20 June 2024 | Viewed by 4372

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Special Issue Editor

Prof. Dr. Stephanie C. Joachim

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Guest Editor

Experimental Eye Research Institute, University Eye Hospital, Ruhr-University Bochum, 44892 Bochum, Germany
Interests: glaucoma; age-related macular degeneration; retinal diseases; retinal organ culture models; autoimmunity; neuroprotection
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Retinal diseases like glaucoma or age-related macular degeneration (AMD) are the leading causes of blindness worldwide and represent a major socioeconomic burden. Due to an aging society, more and more people will be affected with these diseases. Nevertheless, their precise pathogenesis is still unknown. In regard to glaucoma, elevated intraocular pressure and increased age are risk factors, but multiple other factors seem to contribute. Among these factors are vascular deficiencies, toxic components, and immunological reactions are considered relevant for glaucoma pathogenesis. AMD is characterized by drusen and RPE hypo- and hyper-pigmentation and/or horoidal neovascularization, resulting in edema and photoreceptor degeneration. AMD is a multifactorial disease, with aging being the highest risk factor. Genetic disposition also supports AMD development. Oxidative stress, inflammation or complement dysregulation seem to be among the other factors contributing to AMD. Hence complex disease models, based on cell or organ cultures as well as animal models, are needed to understand these pathologies. In addition, there is a strong need for novel or modified treatment options.

Topics of this Special Issue include but are not limited to:

Pathogenesis of retinal diseases
Approaches for neuroprotection
Novel treatment options for retinal diseases

Prof. Dr. Stephanie C. Joachim
Guest Editor

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Keywords

retina
glaucoma
age-related macular degeneration (AMD)
animal model
cell culture
organ culture
molecular pathways
biomarker
neuroprotection

Published Papers (4 papers)

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Research

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11 pages, 984 KiB

Open AccessArticle

Relative Telomere Length Is Associated with the Risk of Development and Severity of the Course of Age-Related Macular Degeneration in the Russian Population

by Olga P. Dmitrenko, Olga I. Abramova, Nataliia S. Karpova, Malik K. Nurbekov and Ekaterina S. Arshinova

Int. J. Mol. Sci. 2023, 24(14), 11360; https://doi.org/10.3390/ijms241411360 - 12 Jul 2023

Viewed by 718

Abstract

One of the most significant factors for age-related macular degeneration (AMD) development is considered to be aging, the processes of which are closely associated with telomere shortening. The different forms, indicators of aggressiveness, and intensities of AMD can be observed in the same age group, confirming the need to find a biomarker for early diagnosis and be capable of monitoring the progression of the pathological process. Therefore, we investigated whether the relative telomere length (RTL) has any connection with the risk of development of disease and its progression. RTL was measured using RT-PCR in 166 people, including 96 patients with AMD. RTL was significantly lower in patients with AMD. Women were more likely to develop AMD than men (odds ratio (OR) = 9.53 × 10⁶ vs. OR = 1.04 × 10⁸, respectively). The decrease in RTL in patients reliably correlated with the progression of AMD, and the smallest RTL was observed in late-stage patients. RTL < 0.8 is a significant risk factor for disease progression. The results of our research showed that RTL may be considered as a potential biomarker and a promising predictor of disease progression in patients with early AMD. Full article

(This article belongs to the Special Issue Towards an Understanding of Retinal Diseases and Novel Treatment 3.0)

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14 pages, 2709 KiB

Open AccessArticle

Systemic Blood Proteome Patterns Reflect Disease Phenotypes in Neovascular Age-Related Macular Degeneration

by Steffen E. Künzel, Leonie T. M. Flesch, Dominik P. Frentzel, Vitus A. Knecht, Anne Rübsam, Felix Dreher, Moritz Schütte, Alexandre Dubrac, Bodo Lange, Marie-Laure Yaspo, Hans Lehrach, Antonia M. Joussen and Oliver Zeitz

Int. J. Mol. Sci. 2023, 24(12), 10327; https://doi.org/10.3390/ijms241210327 - 19 Jun 2023

Cited by 1 | Viewed by 1219

Abstract

There is early evidence of extraocular systemic signals effecting function and morphology in neovascular age-related macular degeneration (nAMD). The prospective, cross-sectional BIOMAC study is an explorative investigation of peripheral blood proteome profiles and matched clinical features to uncover systemic determinacy in nAMD under anti-vascular endothelial growth factor intravitreal therapy (anti-VEGF IVT). It includes 46 nAMD patients stratified by the level of disease control under ongoing anti-VEGF treatment. Proteomic profiles in peripheral blood samples of every patient were detected with LC-MS/MS mass spectrometry. The patients underwent extensive clinical examination with a focus on macular function and morphology. In silico analysis includes unbiased dimensionality reduction and clustering, a subsequent annotation of clinical features, and non-linear models for recognition of underlying patterns. The model assessment was performed using leave-one-out cross validation. The findings provide an exploratory demonstration of the link between systemic proteomic signals and macular disease pattern using and validating non-linear classification models. Three main results were obtained: (1) Proteome-based clustering identifies two distinct patient subclusters with the smaller one (n = 10) exhibiting a strong signature for oxidative stress response. Matching the relevant meta-features on the individual patient’s level identifies pulmonary dysfunction as an underlying health condition in these patients. (2) We identify biomarkers for nAMD disease features with Aldolase C as a putative factor associated with superior disease control under ongoing anti-VEGF treatment. (3) Apart from this, isolated protein markers are only weakly correlated with nAMD disease expression. In contrast, applying a non-linear classification model identifies complex molecular patterns hidden in a high number of proteomic dimensions determining macular disease expression. In conclusion, so far unconsidered systemic signals in the peripheral blood proteome contribute to the clinically observed phenotype of nAMD, which should be examined in future translational research on AMD. Full article

(This article belongs to the Special Issue Towards an Understanding of Retinal Diseases and Novel Treatment 3.0)

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Review

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18 pages, 2106 KiB

Open AccessReview

by Sichang Qu, Hao Lin, Norbert Pfeiffer and Franz H. Grus

Int. J. Mol. Sci. 2024, 25(3), 1624; https://doi.org/10.3390/ijms25031624 - 28 Jan 2024

Viewed by 1012

Abstract

Age-related macular degeneration (AMD) is a severe retinal disease that causes irreversible visual loss and blindness in elderly populations worldwide. The pathological mechanism of AMD is complex, involving the interactions of multiple environmental and genetic factors. A poor understanding of the disease leads to limited treatment options and few effective prevention methods. The discovery of autoantibodies in AMD patients provides an opportunity to explore the pathogenesis and treatment direction of the disease. This review focuses on the mitochondria-associated autoantibodies and summarizes the functional roles of mitochondria under physiological conditions and their alterations during the pathological states. Additionally, it discusses the crosstalk between mitochondria and other organelles, as well as the mitochondria-related therapeutic strategies in AMD. Full article

(This article belongs to the Special Issue Towards an Understanding of Retinal Diseases and Novel Treatment 3.0)

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18 pages, 773 KiB

Open AccessReview

Glaucoma Animal Models beyond Chronic IOP Increase

by Teresa Tsai, Sabrina Reinehr, Leonie Deppe, Alexandra Strubbe, Nils Kluge, H. Burkhard Dick and Stephanie C. Joachim

Int. J. Mol. Sci. 2024, 25(2), 906; https://doi.org/10.3390/ijms25020906 - 11 Jan 2024

Cited by 1 | Viewed by 960

Abstract

Glaucoma is a complex and multifactorial disease defined as the loss of retinal ganglion cells (RGCs) and their axons. Besides an elevated intraocular pressure (IOP), other mechanisms play a pivotal role in glaucoma onset and progression. For example, it is known that excitotoxicity, immunological alterations, ischemia, and oxidative stress contribute to the neurodegeneration in glaucoma disease. To study these effects and to discover novel therapeutic approaches, appropriate animal models are needed. In this review, we focus on various glaucoma animal models beyond an elevated IOP. We introduce genetically modified mice, e.g., the optineurin E50K knock-in or the glutamate aspartate transporter (GLAST)-deficient mouse. Excitotoxicity can be mimicked by injecting the glutamate analogue N-methyl-D-aspartate intravitreally, which leads to rapid RGC degeneration. To explore the contribution of the immune system, the experimental autoimmune glaucoma model can serve as a useful tool. Here, immunization with antigens led to glaucoma-like damage. The ischemic mechanism can be mimicked by inducing a high IOP for a certain amount of time in rodents, followed by reperfusion. Thereby, damage to the retina and the optic nerve occurs rapidly after ischemia/reperfusion. Lastly, we discuss the importance of optic nerve crush models as model systems for normal-tension glaucoma. In summary, various glaucoma models beyond IOP increase can be utilized. Full article

(This article belongs to the Special Issue Towards an Understanding of Retinal Diseases and Novel Treatment 3.0)

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