Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
8.1
4.9
Journals
IJMS
Special Issues
Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases
ijms-logo
Submit to Special Issue Submit Abstract to Special Issue Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases

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 November 2024 | Viewed by 2506

Special Issue Editor

Prof. Dr. Bożena Romanowska-Dixon

E-Mail Website
Guest Editor
Ophthalmological Department, Jagiellonian University Collegium Medicum, Ophthalmology and Ocular Oncology Clinic of University Hospital, Kraków, Poland
Interests: uveal melanoma; metastases; treatment
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Patients known to have systemic diseases may develop ocular problems that require the attention of an ophthalmologist. In the past few years, imaging diagnostic techniques have advanced significantly, including optical coherence tomography (OCT), but they do not distinguish between different etiologic or pathogenetic factors which makes the therapeutic approach challenging, impacting the patient’s quality of life. Complementing imaging tools, new molecular techniques have contributed to a better understanding of the pathogenesis of some noninfectious ocular disorders but also provided a more sensitive and specific diagnosis of infectious causes.

Ocular signs and symptoms may signal serious underlying systemic disorders. The purpose of our Special Issue is to provide an overview of ophthalmological symptoms in various disease types: autoimmune, idiopathic, vascular, congenital, traumatic, neoplastic, infectious, metabolic, and toxins. Although pure clinical research does not meet our journal’s aim and scope, clinical data added with molecular mechanical studies will be warmly welcomed.

Prof. Dr. Bożena Romanowska-Dixon
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. 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

  • diagnosis
  • uveitis
  • keratitis
  • ocular inflammation
  • hypersensitivity

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Other

10 pages, 1489 KiB  
Article
Role of Plasma Angiopoietin-1 and VEGF Levels as Potential Biomarkers in Chronic Central Serous Chorioretinopathy with Macular Neovascularization
by Michał Chrząszcz, Weronika Pociej-Marciak, Natalia Mackiewicz, Bożena Romanowska-Dixon, Marek Sanak, Sławomir Teper, Maciej Gawęcki and Izabella Karska-Basta
Int. J. Mol. Sci. 2024, 25(19), 10748; https://doi.org/10.3390/ijms251910748 - 6 Oct 2024
Viewed by 399
Abstract
To evaluate the plasma levels of angiopoietin-1 and vascular endothelial growth factor (VEGF) and their association with macular neovascularization (MNV) in patients with chronic central serous chorioretinopathy (cCSC). Correlations between plasma cytokine levels, CSC duration, and mean choroidal thickness (CT) were also investigated. [...] Read more.
To evaluate the plasma levels of angiopoietin-1 and vascular endothelial growth factor (VEGF) and their association with macular neovascularization (MNV) in patients with chronic central serous chorioretinopathy (cCSC). Correlations between plasma cytokine levels, CSC duration, and mean choroidal thickness (CT) were also investigated. Of the 59 patients with cCSC, 10 patients with MNV secondary to cCSC and 10 patients with cCSC without MNV were enrolled in the study. The control group included 15 healthy volunteers matched for age, sex, smoking status, and comorbidities. Chronic CSC was diagnosed based on typical findings on swept-source optical coherence tomography (OCT), fundus fluorescein angiography, and indocyanine green angiography. Additionally, all patients underwent OCT angiography to help detect MNV. Plasma angiopoietin-1 and VEGF levels were assessed using multiplex immunoassay. The plasma angiopoietin-1 levels differed between the 3 groups (p = 0.005). The angiopoietin-1 levels were lower in patients with cCSC with MNV than in controls (p = 0.006). There were no differences in the plasma VEGF levels between all the 3 groups (p = 0.329). The VEGF levels were negatively correlated with mean CT in cCSC patients with MNV (rho = −0.683, p = 0.042) but correlated positively with disease duration in patients with cCSC without MNV (rho = 0.886, p = 0.003). Our study confirms that MNV is a common complication of cCSC and provides new insights into the role of angiopoietin-1 in cCSC and MNV. Reduced angiopoietin-1 levels in cCSC patients, regardless of MNV status, highlight the importance of the Ang–Tie2 pathway in disease pathogenesis and may point to new therapeutic targets and future novel treatments to improve the management of these patients. Full article
(This article belongs to the Special Issue Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases)
►▼ Show Figures

Figure 1

23 pages, 7285 KiB  
Article
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy
by Artur V. Cideciyan, Alejandro J. Roman, Raymond L. Warner, Alexander Sumaroka, Vivian Wu, Yu Y. Jiang, Malgorzata Swider, Alexandra V. Garafalo, Iryna Viarbitskaya, Robert C. Russell, Susanne Kohl, Bernd Wissinger, Caterina Ripamonti, John L. Barbur, Michael Bach, Joseph Carroll, Jessica I. W. Morgan and Tomas S. Aleman
Int. J. Mol. Sci. 2024, 25(19), 10639; https://doi.org/10.3390/ijms251910639 - 2 Oct 2024
Viewed by 843
Abstract
L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the OPN1LW/OPN1MW gene cluster participated. Optical coherence tomography [...] Read more.
L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the OPN1LW/OPN1MW gene cluster participated. Optical coherence tomography (OCT), chromatic perimetry, chromatic microperimetry, chromatic visual acuity (VA), and chromaticity thresholds were performed with unmodified commercial equipment and/or methods available in the public domain. Adaptive optics scanning laser ophthalmoscope (AOSLO) imaging was performed in a subset of patients. Outer retinal changes were detectable by OCT with an age-related effect on the foveal disease stage. Rod and short-wavelength-sensitive (S) cone functions were relatively retained by perimetry, although likely impacted by age-related increases in the pre-retinal absorption of short-wavelength lights. The central macula showed a large loss of red sensitivity on dark-adapted microperimetry. Chromatic VAs with high-contrast red gratings on a blue background were not detectable. Color vision was severely deficient. AOSLO imaging showed reduced total cone density with majority of the population being non-waveguiding. This study developed and evaluated specialized outcomes that will be needed for the determination of efficacy and safety in human clinical trials. Dark-adapted microperimetry with a red stimulus sampling the central macula would be a key endpoint to evaluate the light sensitivity improvements. VA changes specific to L-opsin can be measured with red gratings on a bright blue background and should also be considered as outcome measures in future interventional trials. Full article
(This article belongs to the Special Issue Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases)
►▼ Show Figures

Figure 1

Other

Jump to: Research

12 pages, 2212 KiB  
Case Report
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes
by Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller and Maciej R. Krawczynski
Int. J. Mol. Sci. 2024, 25(11), 5759; https://doi.org/10.3390/ijms25115759 - 25 May 2024
Viewed by 785
Abstract
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected [...] Read more.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and retinal pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic or syndromic with complex clinical phenotypes. Three unrelated Polish probands affected with retinitis pigmentosa coexisting with cerebellar ataxia were recruited for this study. Clinical heterogeneity and delayed appearance of typical disease symptoms significantly prolonged the patients’ diagnostic process. Therefore, many clinical and genetic tests have been performed in the past. Here, we provide detailed clinical and genetic analysis results of the patients. Whole-exome sequencing (WES) and targeted NGS analysis allow the identification of four novel and two previously reported variants in the following genes: ABHD12, FLVCR1, and PNPLA6. The use of next-generation sequencing (NGS) methods finally allowed for confirmation of the clinical diagnosis. Ultra-rare diseases such as PHARC, PCARP, and Oliver–McFarlane syndromes were diagnosed in patients, respectively. Our findings confirmed the importance of the application of next-generation sequencing methods, especially in ultra-rare genetic disorders with overlapping features. Full article
(This article belongs to the Special Issue Pathogenetic Factors of Ophthalmological Symptoms in Systemic Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop