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Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases

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A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: 15 May 2024 | Viewed by 13308

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Special Issue Editor

Prof. Dr. Antonio Ferreras

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Guest Editor

Hospital Miguel Servet, Zaragoza, Spain
Interests: glaucoma
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is a pleasure to invite the authors to submit a manuscript to this Special Issue on ‘’Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases’’.

The pathogenesis of different retinal diseases, such as age-related macular degeneration, diabetic retinopathy, non-infectious uveitis, or retinal vein occlusions, is related to inflammatory mediators. The risk of developing visual disability or blindness as a consequence of retinal diseases varies largely among affected individuals. Personalized testing strategies and tailored therapeutic interventions may help to effectively reduce visual impairment.

On the one hand, some biochemical markers can determine the risk of developing a retinal disease as well as the risk of progression. On the other hand, new advances in imaging technologies for evaluating the retina have improved the visualization of the retinal layers and the monitorization of the changes that diseases affecting the retina generate over time. Optical coherence tomography, which currently can be considered as one of the most powerful imaging technologies for ocular diseases, has been suggested as an important source of biomarkers for the diagnosis and prognosis of retinal diseases. Therefore, several molecular and structural parameters can be used as risk estimators, potential tools for early diagnosis, and for disease management in clinical practice.

We invite investigators to contribute original research articles and reviews that help to update the knowledge on these topics. Particularly, we encourage authors to submit manuscripts focused on the current applications and future potential of retinal biomarkers, including both molecules and structural parameters based on imaging technologies.

Prof. Dr. Antonio Ferreras
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. Biomolecules is an international peer-reviewed open access monthly 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 2700 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

retina
macula
macular edema
inflammatory mediators
optical coherence tomography
retinal imaging
biochemical marker
biomarker
pharmacological targeting

Published Papers (6 papers)

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Research

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15 pages, 1574 KiB

Open AccessArticle

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study

by M. Dominik Fischer, Francesca Simonelli, Jayashree Sahni, Frank G. Holz, Rainer Maier, Christina Fasser, Andrea Suhner, Daniel P. Stiehl, Bee Chen, Isabelle Audo and Bart P. Leroy

Biomolecules 2024, 14(1), 122; https://0-doi-org.brum.beds.ac.uk/10.3390/biom14010122 - 17 Jan 2024

Cited by 2 | Viewed by 1654

Abstract

Voretigene neparvovec (VN) is the first available gene therapy for patients with biallelic RPE65-mediated inherited retinal dystrophy who have sufficient viable retinal cells. PERCEIVE is an ongoing, post-authorization, prospective, multicenter, registry-based observational study and is the largest study assessing the real-world, long-term safety and effectiveness of VN. Here, we present the outcomes of 103 patients treated with VN according to local prescribing information. The mean (SD) age was 19.5 (10.85) years, 52 (50.5%) were female, and the mean (SD) duration of the follow up was 0.8 (0.64) years (maximum: 2.3 years). Thirty-five patients (34%) experienced ocular treatment-emergent adverse events (TEAEs), most frequently related to chorioretinal atrophy (n = 13 [12.6%]). Eighteen patients (17.5%; 24 eyes [13.1%]) experienced ocular TEAEs of special interest, including intraocular inflammation and/or infection related to the procedure (n = 7). The mean (SD) changes from baseline in full-field light-sensitivity threshold testing (white light) at month 1, month 6, year 1, and year 2 were −16.59 (13.48) dB (51 eyes), −18.24 (14.62) dB (42 eyes), −15.84 (14.10) dB (10 eyes), and −13.67 (22.62) dB (13 eyes), respectively. The change in visual acuity from baseline was not clinically significant. Overall, the outcomes of the PERCEIVE study are consistent with the findings of VN pivotal clinical trials. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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13 pages, 1969 KiB

Open AccessArticle

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center

by Peter Kiraly, Charles L. Cottriall, Laura J. Taylor, Jasleen K. Jolly, Jasmina Cehajic-Kapetanovic, Imran H. Yusuf, Cristina Martinez-Fernandez de la Camara, Morag Shanks, Susan M. Downes, Robert E. MacLaren and M. Dominik Fischer

Biomolecules 2023, 13(10), 1484; https://0-doi-org.brum.beds.ac.uk/10.3390/biom13101484 - 05 Oct 2023

Cited by 4 | Viewed by 1273

Abstract

Our study evaluated the morphological and functional outcomes, and the side effects, of voretigene neparvovec (VN) gene therapy for RPE65-mediated inherited retinal dystrophies (IRDs) in 12 eyes (six patients) at the Oxford Eye Hospital with a mean follow-up duration of 8.2 (range 1–12) months. All patients reported a subjective vision improvement 1 month after gene therapy. Best-corrected visual acuity (BCVA) remained stable (baseline: 1.28 (±0.71) vs. last follow-up: 1.46 (±0.60); p = 0.25). Average white Full-Field Stimulus Testing (FST) showed a trend towards improvement (baseline: −4.41 (±10.62) dB vs. last follow-up: −11.98 (±13.83) dB; p = 0.18). No changes in central retinal thickness or macular volume were observed. The side effects included mild intraocular inflammation (two eyes) and cataracts (four eyes). Retinal atrophy occurred in 10 eyes (eight mild, two severe) but did not impact FST measurements during the follow-up period. Increased intraocular pressure (IOP) was noted in three patients (six eyes); four eyes (two patients) required glaucoma surgery. The overall safety and effectiveness of VN treatment in our cohort align with previous VN clinical trials, except for the higher occurrence of retinal atrophy and increased IOP in our cohort. This suggests that raised IOP and retinal atrophy may be more common than previously reported. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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20 pages, 7752 KiB

Open AccessArticle

Non-Invasive Retinal Blood Vessel Wall Measurements with Polarization-Sensitive Optical Coherence Tomography for Diabetes Assessment: A Quantitative Study

by Hadi Afsharan, Dilusha Silva, Chulmin Joo and Barry Cense

Biomolecules 2023, 13(8), 1230; https://0-doi-org.brum.beds.ac.uk/10.3390/biom13081230 - 08 Aug 2023

Cited by 2 | Viewed by 1385

Abstract

Diabetes affects the structure of the blood vessel walls. Since the blood vessel walls are made of birefringent organized tissue, any change or damage to this organization can be evaluated using polarization-sensitive optical coherence tomography (PS-OCT). In this paper, we used PS-OCT along with the blood vessel wall birefringence index (BBI = thickness/birefringence²) to non-invasively assess the structural integrity of the human retinal blood vessel walls in patients with diabetes and compared the results to those of healthy subjects. PS-OCT measurements revealed that blood vessel walls of diabetic patients exhibit a much higher birefringence while having the same wall thickness and therefore lower BBI values. Applying BBI to diagnose diabetes demonstrated high accuracy (93%), sensitivity (93%) and specificity (93%). PS-OCT measurements can quantify small changes in the polarization properties of retinal vessel walls associated with diabetes, which provides researchers with a new imaging tool to determine the effects of exercise, medication, and alternative diets on the development of diabetes. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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8 pages, 989 KiB

Open AccessArticle

Lipid Peroxidation in Subretinal Fluid: Some Light on the Prognosis Factors

by Francisco Bosch-Morell, Enrique García-Gen, Salvador Mérida, Mariola Penadés, Carmen Desco and Amparo Navea

Biomolecules 2021, 11(4), 514; https://0-doi-org.brum.beds.ac.uk/10.3390/biom11040514 - 30 Mar 2021

Cited by 2 | Viewed by 1761

Abstract

The aim of this study was to identify a relation between the clinical characteristics and differences in lipid peroxidation in the subretinal fluid (SRF) of rhegmatogenous retinal detached patients by malondialdehyde (MDA) quantification. We collected 65 SRF samples from consecutive patients during scleral buckling surgery in rhegmatogenous retinal detachment (RRD) eyes. In addition to a complete ophthalmic evaluation, we studied the refractive status, evolution time, and the number of detached retinal quadrants to establish the extension of RRD. We studied the clinical aspects and oxidative stress and compared the characteristics among groups. We found that neither the evolution time of RRD nor the patients’ age correlated with the MDA concentration in the SRF. The MDA and the protein content of the SRF increased in the patients with high myopia and with more extended RRD. Our results suggest that oxidative imbalance was important in more extended retinal detachment (RD) and in myopic eyes and should be taken into account in the managing of these cases. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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Review

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20 pages, 7730 KiB

Open AccessReview

Fundus Autofluorescence in Posterior and Panuveitis—An Under-Estimated Imaging Technique: A Review and Case Series

by Matthias M. Mauschitz, Markus Zeller, Pradeep Sagar, Suchitra Biswal, Gabriela Guzman, Jan H. Terheyden, Carsten H. Meyer, Frank G. Holz, Carsten Heinz, Uwe Pleyer, Robert P. Finger and Maximilian W. M. Wintergerst

Biomolecules 2024, 14(5), 515; https://0-doi-org.brum.beds.ac.uk/10.3390/biom14050515 - 25 Apr 2024

Viewed by 265

Abstract

Fundus autofluorescence (FAF) is a prompt and non-invasive imaging modality helpful in detecting pathological abnormalities within the retina and the choroid. This narrative review and case series provides an overview on the current application of FAF in posterior and panuveitis. The literature was reviewed for articles on lesion characteristics on FAF of specific posterior and panuveitis entities as well as benefits and limitations of FAF for diagnosing and monitoring disease. FAF characteristics are described for non-infectious and infectious uveitis forms as well as masquerade syndromes. Dependent on the uveitis entity, FAF is of diagnostic value in detecting disease and following the clinical course. Currently available FAF modalities which differ in excitation wavelengths can provide different pathological insights depending on disease entity and activity. Further studies on the comparison of FAF modalities and their individual value for uveitis diagnosis and monitoring are warranted. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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32 pages, 4145 KiB

Open AccessReview

Peptidomimetics Therapeutics for Retinal Disease

by Dylan E. Parsons, Soo Hyeon Lee, Young Joo Sun, Gabriel Velez, Alexander G. Bassuk, Mark Smith and Vinit B. Mahajan

Biomolecules 2021, 11(3), 339; https://0-doi-org.brum.beds.ac.uk/10.3390/biom11030339 - 24 Feb 2021

Cited by 10 | Viewed by 5544

Abstract

Ocular disorders originating in the retina can result in a partial or total loss of vision, making drug delivery to the retina of vital importance. However, effectively delivering drugs to the retina remains a challenge for ophthalmologists due to various anatomical and physicochemical barriers in the eye. This review introduces diverse administration routes and the accordant pharmacokinetic profiles of ocular drugs to aid in the development of safe and efficient drug delivery systems to the retina with a focus on peptidomimetics as a growing class of retinal drugs, which have great therapeutic potential and a high degree of specificity. We also discuss the pharmacokinetic profiles of small molecule drugs due to their structural similarity to small peptidomimetics. Lastly, various formulation strategies are suggested to overcome pharmacokinetic hurdles such as solubility, retention time, enzymatic degradation, tissue targeting, and membrane permeability. This knowledge can be used to help design ocular delivery platforms for peptidomimetics, not only for the treatment of various retinal diseases, but also for the selection of potential peptidomimetic drug targets. Full article

(This article belongs to the Special Issue Molecular Pathology, Diagnostics and Therapeutics of Retinal Diseases)

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