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Diagnostics
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New Horizons in Retinal Diseases Diagnostics and Treatment
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New Horizons in Retinal Diseases Diagnostics and Treatment

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 4795

Special Issue Editors

Prof. Dr. Jerzy Mackiewicz

E-Mail Website
Guest Editor
Department of Vitreoretinal Surgery, Medical University of Lublin, 20-079 Lublin, Poland
Interests: retinal surgery
Dr. Mateusz Winiarczyk

E-Mail Website
Guest Editor
Department of Vitreoretinal Surgery, Medical University of Lublin, 20-079 Lublin, Poland
Interests: retinal diseases; AMD; vitrectomy; biomarkers; proteomics; metabolomics

Special Issue Information

Dear Colleagues,

Modern ophthalmology is rapidly developing in every field—basic sciences, diagnostics and treatment. In particular, this involves retinal diseases, as breakthrough discoveries in basic sciences regarding the pathogenesis of diseases, such as AMD, inherited retinal disorders, diabetic retinopathy and vessel occlusions, are increasing. Moreover, research on the diagnostic patterns of the abovementioned diseases and their treatment is also increasing.

This Special Issue aims to explore recent scientific discoveries in the following research areas:

  • Age-related macular degeneration;
  • Retinal detachment;
  • Macular disorders (macular holes, epiretinal membranes etc.);
  • Retinal vein/artery occlusion;
  • Inherited retinal diseases.

Original research articles that highlight innovative findings in the diagnostics and treatment of retinal conditions—both medical and surgical—with a special focus on the latest vitreoretinal surgery updates are welcome. Review articles will also be considered for publication.

Prof. Dr. Jerzy Mackiewicz
Dr. Mateusz Winiarczyk
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. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • retinal disease
  • AMD
  • retinal detachment
  • CRVO
  • BRVO
  • CRAO
  • BRAO
  • vitrectomy
  • anti-VEGF
  • biomarkers

Published Papers (3 papers)

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Research

21 pages, 46906 KiB  
Article
An Analysis of Optical Coherence Tomography Angiography (OCT-A) Perfusion Density Maps in Patients Treated for Retinal Vein Occlusion with Intravitreal Aflibercept
by Dorota Śpiewak, Katarzyna Witek, Łukasz Drzyzga and Ewa Mrukwa-Kominek
Diagnostics 2023, 13(19), 3100; https://doi.org/10.3390/diagnostics13193100 - 29 Sep 2023
Cited by 1 | Viewed by 920
Abstract
Aim: The primary goal of this study was to evaluate the reduction in non-perfusion area and improvement in blood flow as well as the reduction in retinal edema on optical coherence tomography angiography (OCT-A) in patients with retinal vein occlusion treated with 2 [...] Read more.
Aim: The primary goal of this study was to evaluate the reduction in non-perfusion area and improvement in blood flow as well as the reduction in retinal edema on optical coherence tomography angiography (OCT-A) in patients with retinal vein occlusion treated with 2 mg intravitreal injections of aflibercept. Material and methods: Fifty eyes of nine patients with central retinal vein occlusion (CRVO) and sixteen patients with branch retinal vein occlusion (BRVO), aged 50 to 75 years, were collectively analyzed as retinal vein occlusion (RVO). The following parameters were analyzed: superficial vessel density (VDSF), deep vessel density (VDD), flow area in the outer retina (FAOR), choriocapillaris flow area (FACC), non-flow area (NFA) and the foveal avascular zone (FAZ). Results: OCT-A revealed a reduction in macular edema. The most significant change in central retinal thickness (CRT) was observed between measurement timepoint “5” and the baseline (46%). The non-flow area was also reduced. Following a significant decrease in superficial vessel density 30 days after the first dose of aflibercept, a non-significant increase was noted at the subsequent timepoints. An increase was also found in deep vessel density and choriocapillaris flow area. Improvements in the above OCT-A parameters resulted in increased retinal blood flow and improved visual acuity. Conclusions: Patients with retinal vein occlusion treated with 2 mg aflibercept exhibited reduced macular edema and FAZ, increased vessel density, improved blood flow, and better visual acuity. Full article
(This article belongs to the Special Issue New Horizons in Retinal Diseases Diagnostics and Treatment)
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11 pages, 812 KiB  
Article
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa
by Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner and Maciej R. Krawczyński
Diagnostics 2023, 13(4), 730; https://doi.org/10.3390/diagnostics13040730 - 14 Feb 2023
Viewed by 1167
Abstract
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss of photoreceptor and pigment epithelial function. Nineteen unrelated Polish probands clinically diagnosed with nonsyndromic RP were recruited to this study. We used whole-exome sequencing (WES) to identify potential [...] Read more.
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss of photoreceptor and pigment epithelial function. Nineteen unrelated Polish probands clinically diagnosed with nonsyndromic RP were recruited to this study. We used whole-exome sequencing (WES) to identify potential pathogenic gene variants in molecularly undiagnosed RP patients, as a molecular re-diagnosis after having performed targeted NGS in the past. Targeted NGS allowed for identification of the molecular background in only 5 out of 19 patients. Fourteen patients who remained unsolved despite the targeted NGS were subjected to WES. WES revealed potentially causative variants in RP-related genes in another 12 patients. Together, NGS methods revealed the coexistence of causal variants affecting distinct RP genes in 17 out of 19 RP families, with a very high efficiency of 89%. With the improvement of NGS methods, including higher sequencing depth, broader target enrichment, and better bioinformatic analysis capabilities, the ratio of identified causal gene variants has significantly increased. Therefore, it is important to consider repeating high-throughput sequencing analysis in those patients in whom the previously performed NGS did not reveal any pathogenic variants. The study confirmed the efficiency and clinical utility of re-diagnosis with WES in molecularly undiagnosed RP patients. Full article
(This article belongs to the Special Issue New Horizons in Retinal Diseases Diagnostics and Treatment)
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10 pages, 1761 KiB  
Article
Focal Choroidal Excavation: Epidemiology, Clinical Characteristics and Multimodal Imaging Findings
by Paulina Szabelska, Justyna Mędrzycka, Joanna Brydak-Godowska, Radosław Różycki and Joanna Gołębiewska
Diagnostics 2023, 13(4), 602; https://doi.org/10.3390/diagnostics13040602 - 7 Feb 2023
Cited by 3 | Viewed by 2328
Abstract
Background: Focal choroidal excavation (FCE) is one of the pachychoroid spectrum diseases. It may be an isolated lesion or associated with other ophthalmological disorders. The aim of the study was to present the epidemiology, clinical features and multimodal imaging findings in FCE. Methods: [...] Read more.
Background: Focal choroidal excavation (FCE) is one of the pachychoroid spectrum diseases. It may be an isolated lesion or associated with other ophthalmological disorders. The aim of the study was to present the epidemiology, clinical features and multimodal imaging findings in FCE. Methods: This is a case series of 14 consecutive patients with a diagnosis of FCE, confirmed by multimodal imaging, from a review of the 5076 optical coherence tomography (OCT) scans in 2538 patients. Choroidal thickness (CT) was measured under the fovea and in the area of maximum choroidal thickening in the affected eye and under the fovea in the fellow eye. Results: The mean age of the subjects was 40 ± 13.58 years. FCE occurred unilaterally and was an isolated lesion in all cases. The fellow eye did not show any macular pathology in all patients. Twelve eyes presented conforming FCEs and two non–conforming FCEs. In 79% of cases, FCE was subfoveal. The mean maximum CT was 390 μm in the affected eye with the presence of pachyvessels. A total of 13 patients were asymptomatic, while one patient reported a visual disturbance due to neovascularization secondary to FCE. Of all the multimodal imaging techniques, optical coherence tomography (OCT) provided the most important data in the diagnosis of FCE. Conclusions: Our study confirmed that FCE is a rare ocular condition, but it may be more common in Caucasian population than previously known. Multimodal imaging methods, mainly OCT, are crucial in FCE diagnostics. Further studies are needed to expand the available knowledge about its etiology and clinical course. Full article
(This article belongs to the Special Issue New Horizons in Retinal Diseases Diagnostics and Treatment)
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