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Precision Medicine in Ocular Diseases 2.0
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Precision Medicine in Ocular Diseases 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 8485

Special Issue Editors

Dr. De-Kuang Hwang

E-Mail Website
Guest Editor
Department of Medical Research, Taipei Veterans General Hospital, Taipei 112201, Taiwan
Interests: ocular inflammation (uveitis); retinal diseases; genes in ocular hereditary and inflammatory diseases; ophthalmic epidemiology; big data analysis; artificial intelligence
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Shih-Jen Chen

E-Mail Website
Guest Editor
Department of Ophthalmology, Taipei Veterans General Hospital, Taipei 112201, Taiwan
Interests: diagnosis and treatments of retinal diseases; molecules and genes in ocular diseases; ophthalmic epidemiology; retinal stem cells; retinal prosthesis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, precision medicine has been widely investigated in many human diseases, including ophthalmology. Recent remarkable achievements in predicting drug responses and disease prognosis and stratifying patients according to their genetic makeup are slowly being implemented into clinical guidelines. Ocular diseases possess a strong genetic predisposition component, and so molecular advances in the understanding of genetic risk, molecular diagnosis, and pathophysiology will influence patient outcome and derive novel leads for drug development where treatment strategies have been limited to symptom management of many ocular diseases. Furthermore, a greater understanding of the genetic architecture and genetic prevalence of these diseases will allow active monitoring of the potential blinding of patients and promote effective treatment strategies.

This Special Issue is focused on the genetics of ophthalmic disease and related clinical applications. Potential topics include, but are not limited, the following: precision medicine, genetic statistics, polygenic risk score for all ocular pathologies (i.e., age-related macular degeneration, cataracts, glaucoma, diabetic retinopathy, uveitis, Sicca syndrome, and inherited retinal dystrophy).

Dr. De-Kuang Hwang
Prof. Dr. Shih-Jen Chen
Guest Editors

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

  • precision medicine
  • statistical genetics
  • bioinformatics
  • ocular diseases
  • aged-related macular degeneration
  • cataract
  • diabetic retinopathy

Published Papers (4 papers)

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Research

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21 pages, 4531 KiB  
Article
C1q/TNF-Related Proteins 1, 6 and 8 Are Involved in Corneal Epithelial Wound Closure by Targeting Relaxin Receptor RXFP1 In Vitro
by Hagen Fabian Nicolaus, Thomas Klonisch, Friedrich Paulsen and Fabian Garreis
Int. J. Mol. Sci. 2023, 24(7), 6839; https://doi.org/10.3390/ijms24076839 - 6 Apr 2023
Cited by 1 | Viewed by 1605
Abstract
Inadequate wound healing of ocular surface injuries can lead to permanent visual impairment. The relaxin ligand-receptor system has been demonstrated to promote corneal wound healing through increased cell migration and modulation of extracellular matrix formation. Recently, C1q/tumor necrosis factor-related protein (CTRP) 8 was [...] Read more.
Inadequate wound healing of ocular surface injuries can lead to permanent visual impairment. The relaxin ligand-receptor system has been demonstrated to promote corneal wound healing through increased cell migration and modulation of extracellular matrix formation. Recently, C1q/tumor necrosis factor-related protein (CTRP) 8 was identified as a novel interaction partner of relaxin receptor RXFP1. Additional data also suggest a role for CTRP1 and CTRP6 in RXFP1-mediated cAMP signaling. However, the role of CTRP1, CTRP6 and CTRP8 at the ocular surface remains unclear. In this study, we investigated the effects of CTRP1, CTRP6, and CTRP8 on epithelial ocular surface wound closure and their dependence on the RXFP1 receptor pathway. CTRP1, CTRP6, and CTRP8 expression was analyzed by RT-PCR and immunohistochemistry in human tissues and cell lines derived from the ocular surface and lacrimal apparatus. In vitro ocular surface wound modeling was performed using scratch assays. We analyzed the effects of recombinant CTRP1, CTRP6, and CTRP8 on cell proliferation and migration in human corneal and conjunctival epithelial cell lines. Dependence on RXFP1 signaling was established by inhibiting ligand binding to RXFP1 using a specific anti-RXFP1 antibody. We detected the expression of CTRP1, CTRP6, and CTRP8 in human tissue samples of the cornea, conjunctiva, meibomian gland, efferent tear ducts, and lacrimal gland, as well as in human corneal, conjunctival, and meibomian gland epithelial cell lines. Scratch assays revealed a dose-dependent increase in the closure rate of surface defects in human corneal epithelial cells after treatment with CTRP1, CTRP6, and CTRP8, but not in conjunctival epithelial cells. Inhibition of RXFP1 fully attenuated the effect of CTRP8 on the closure rate of surface defects in human corneal epithelial cells, whereas the CTRP1 and CTRP6 effects were not completely suppressed. Conclusions: Our findings demonstrate a novel role for CTRP1, CTRP6, and CTRP8 in corneal epithelial wound closure and suggest an involvement of the relaxin receptor RXFP1 signaling pathway. This could be a first step toward new approaches for pharmacological and therapeutic intervention. Full article
(This article belongs to the Special Issue Precision Medicine in Ocular Diseases 2.0)
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10 pages, 5495 KiB  
Article
Applying Metagenomic Analysis Using Nanopore Sequencer (MinION) for Precision Medicine in Bacterial Keratoconjunctivitis: Comprehensive Validation of Molecular Biological and Conventional Examinations
by Hiroshi Eguchi, Fumika Hotta and Shunji Kusaka
Int. J. Mol. Sci. 2023, 24(3), 2611; https://doi.org/10.3390/ijms24032611 - 30 Jan 2023
Cited by 2 | Viewed by 1600
Abstract
Smear microscopic examination and culture of the corneal scrapings are the gold standards for the diagnosis of bacterial keratoconjunctivitis. High-sensitivity molecular biological examinations of the ocular surface specimens are used clinically. However, the results require careful interpretation to avoid the unintentional detection of [...] Read more.
Smear microscopic examination and culture of the corneal scrapings are the gold standards for the diagnosis of bacterial keratoconjunctivitis. High-sensitivity molecular biological examinations of the ocular surface specimens are used clinically. However, the results require careful interpretation to avoid the unintentional detection of indigenous bacteria. Results of conventional and state-of-the-art examinations require clinical verification for specificity and sensitivity. In this study, smear microscopic examination, culture, and nanopore sequencing using the MinION of ocular surface specimens from eight clinically diagnosed bacterial keratoconjunctivitis cases were performed and compared. Seven of the eight cases (87.5%) were smear positive and five (62.5%) were culture positive. The former showed the same genus in >60% of the classified reads as one specific bacterium inferred from the smear microscopy when sequenced by the MinION. In two of the three culture-negative cases, the smear-positive images were highly reminiscent of the species comprising most of the MinION sequences. Four of the five culture-positive cases were consistent with the most prevalent bacteria in the sequencing results. Probable contamination among specimens processed on the same day were observed. In conclusion, the microscopic examination of the corneal scraping specimens may be more sensitive and specific than the culture examination. Additionally, although metagenomic analysis using the MinION contributes to more precise medication for bacterial keratoconjunctivitis, contamination can affect the results. Full article
(This article belongs to the Special Issue Precision Medicine in Ocular Diseases 2.0)
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Review

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25 pages, 845 KiB  
Review
Precision Medicine in Glaucoma: Artificial Intelligence, Biomarkers, Genetics and Redox State
by Antonio Maria Fea, Federico Ricardi, Cristina Novarese, Francesca Cimorosi, Veronica Vallino and Giacomo Boscia
Int. J. Mol. Sci. 2023, 24(3), 2814; https://doi.org/10.3390/ijms24032814 - 1 Feb 2023
Cited by 5 | Viewed by 2546
Abstract
Glaucoma is a multifactorial neurodegenerative illness requiring early diagnosis and strict monitoring of the disease progression. Current exams for diagnosis and prognosis are based on clinical examination, intraocular pressure (IOP) measurements, visual field tests, and optical coherence tomography (OCT). In this scenario, there [...] Read more.
Glaucoma is a multifactorial neurodegenerative illness requiring early diagnosis and strict monitoring of the disease progression. Current exams for diagnosis and prognosis are based on clinical examination, intraocular pressure (IOP) measurements, visual field tests, and optical coherence tomography (OCT). In this scenario, there is a critical unmet demand for glaucoma-related biomarkers to enhance clinical testing for early diagnosis and tracking of the disease’s development. The introduction of validated biomarkers would allow for prompt intervention in the clinic to help with prognosis prediction and treatment response monitoring. This review aims to report the latest acquisitions on biomarkers in glaucoma, from imaging analysis to genetics and metabolic markers. Full article
(This article belongs to the Special Issue Precision Medicine in Ocular Diseases 2.0)
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20 pages, 1469 KiB  
Review
Acylcarnitines in Ophthalmology: Promising Emerging Biomarkers
by Konstantinos Theodoridis, Helen Gika and Antigoni Kotali
Int. J. Mol. Sci. 2022, 23(24), 16183; https://doi.org/10.3390/ijms232416183 - 19 Dec 2022
Cited by 2 | Viewed by 2359
Abstract
Several common ocular diseases are leading causes of irreversible visual impairment. Over the last decade, various mainly untargeted metabolic studies have been performed to show that metabolic dysfunction plays an important role in the pathogenesis of ocular diseases. A number of metabolites in [...] Read more.
Several common ocular diseases are leading causes of irreversible visual impairment. Over the last decade, various mainly untargeted metabolic studies have been performed to show that metabolic dysfunction plays an important role in the pathogenesis of ocular diseases. A number of metabolites in plasma/serum, aqueous or vitreous humor, or in tears have been found to differ between patients and controls; among them are L-carnitine and acylcarnitines, which are essential for mitochondrial fatty acid oxidation. The metabolic profile of carnitines regarding a variety of diseases has attracted researchers’ interest. In this review, we present and discuss recent advances that have been made in the identification of carnitines as potential metabolic biomarkers in common ocular diseases, such as age-related macular degeneration, diabetic retinopathy, retinopathy of prematurity, central retinal vein occlusion, primary open-angle glaucoma, rhegmatogenous retinal detachment, and dry eye syndrome. Full article
(This article belongs to the Special Issue Precision Medicine in Ocular Diseases 2.0)
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