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Retinal Diseases: Mechanisms, Diagnosis and Treatments
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Retinal Diseases: Mechanisms, Diagnosis and Treatments

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: 20 July 2025 | Viewed by 6017

Special Issue Editors

Prof. Dr. Horia T. Stanca

E-Mail Website
Guest Editor
Department of Ophthalmology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania
Interests: medical and surgical retina; cataract surgery; glaucoma; lasers in ophthalmology; refractive surgery
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Mihnea Munteanu

E-Mail Website
Guest Editor
Department of Ophthalmology, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania
Interests: retinal diseases; medical and surgical retina; ocular surface
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, we have faced huge improvements and tremendous challenges regarding both medical and surgical approaches in several retinal diseases. Genetic treatments have already been employed in patients with inherited retinal disorders (IRD), such as the daily use of voretigene neparvovec by patients with mutations in both copies of the RPE65 gene. These developments have opened a promising pathway for new research in gene editing for managing retinitis pigmentosa (RP), Stargardt disease, Leber congenital amaurosis (LCA), cone rod dystrophy, and so on.

One of the most important tools in retinal diagnosis is optical coherence tomography (OCT), in addition to color fundus photography, fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICG), and wide-field (WF) and ultra-wide-field (UWF) multimodal imaging scans, which are the most widely used methods in the comprehensive evaluation of vitreo-retinal diseases. These higher speed scanning systems provide us with impressive opportunities to understand the mechanisms of the diseases of interest.

The surgical treatment of different retinal pathologies represents another area of continuous improvement. Vitreo-retinal surgeries have become increasingly more safe and efficient with the development of 27 gauge microincisional vitreo-retinal surgery (MIVS), two-dimensional cutting speed instruments (20,000 cuts per minute (cpm)), better fluidics and the possibility to continuously control intraocular pressure (IOP), heads-up 3D visualization systems, and the foot switch pedal-controlled subretinal injection of small volumes of different substances. Future developments in this field have already been announced, with a huge interest and uptake being expected.

The widespread use of intravitreal injections with anti-VEGF agents or even steroids for the treatment of different retinal diseases like age-related macular degeneration (AMD), diabetic macular edema (DME), macular edema (ME) secondary to retinal vein occlusions (RVO), and non-infectious uveitis (NIU) revealed several needs regarding the extension of the interval between treatments and the possibility to be more efficient by introducing new therapeutical agents into our armamentarium.

The purpose of this Special Issue is to discuss matters associated with new concepts in the diagnosis and treatment of retinal diseases.  The scope of this Special Issue is deliberately broad to encourage the coverage of a wide range of topics and perspectives related to the mechanisms of retinal diseases that are newly revealed by state-of-the-art diagnostic tools and related to promising therapeutic approaches in this field through original contributions or reviews.

Prof. Dr. Horia T. Stanca
Prof. Dr. Mihnea Munteanu
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. Journal of Personalized Medicine 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 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

  • multimodality
  • vitreo-retinal surgery
  • anti-VEGF agents
  • genetic treatments

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Published Papers (5 papers)

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Research

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11 pages, 1621 KiB  
Article
Fundus Photography-Based Distribution of Retinal Hemorrhages in Newborns: Implications for Underlying Mechanisms
by Gwon Hui Jo, Mi Young Choi, Kibum Lee, Kyung Tae Kim, Dong Yoon Kim, Ju Byung Chae and Eoi Jong Seo
J. Pers. Med. 2025, 15(1), 38; https://doi.org/10.3390/jpm15010038 - 19 Jan 2025
Viewed by 769
Abstract
Introduction: The aim of this study was to investigate the locational distribution and potential mechanisms of retinal hemorrhages in newborns using fundus photography. Methods: A retrospective analysis of 98 consecutive newborns with retinal hemorrhages in at least one eye and 30 control newborns [...] Read more.
Introduction: The aim of this study was to investigate the locational distribution and potential mechanisms of retinal hemorrhages in newborns using fundus photography. Methods: A retrospective analysis of 98 consecutive newborns with retinal hemorrhages in at least one eye and 30 control newborns without retinal hemorrhages after uneventful delivery was conducted. Retinal hemorrhages were diagnosed and characterized using fundus photography and indirect ophthalmoscopy. The location, grade, and features of the hemorrhages were analyzed, alongside their association with delivery mode. Visual function was assessed at a mean follow-up of 7.8 months to evaluate the long-term implications. Results: Retinal hemorrhages were significantly associated with normal spontaneous vaginal delivery (NSVD) compared to cesarean section (p = 0.004). Bilateral involvement was observed in 87.8% of cases, with hemorrhages predominantly located around the major vascular arcade (MVA) and near the optic disc. Higher grades of hemorrhages were linked to increased involvement of the macula and retinal capillary area (RCA) (p < 0.001). All hemorrhages resolved spontaneously within 45.6 ± 15.9 days. No significant differences in refractive errors or strabismus development were identified between the hemorrhage and control groups at follow-up. Conclusions: Neonatal retinal hemorrhages are commonly observed near the MVA and optic disc, with greater severity associated with macular and RCA involvement. These findings, along with the significant association with NSVD, support a mechanism related to elevated central venous pressure. Retinal hemorrhages resolve spontaneously without impacting refractive error or strabismus development in the short term follow-up. Full article
(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)
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12 pages, 824 KiB  
Article
Relationship Between Short-Term Blood Pressure Variability and Choroidal–Retinal Thicknesses Assessed by Optical Coherence Tomography in Hypertensive Subjects
by Caterina Carollo, Maria Vadalà, Marta Ferrara, Enea Chisci, Alberto La Felice, Katia Valeria Di Natale, Alessandra Sorce, Vincenza Maria Elena Bonfiglio and Giuseppe Mulè
J. Pers. Med. 2024, 14(12), 1123; https://doi.org/10.3390/jpm14121123 - 27 Nov 2024
Viewed by 838
Abstract
Background/Objectives: The complications of hypertension depend not only on the mean blood pressure (BP) but also on its variability (BPV). Recent studies suggest that the choroid may serve as an indicator of systemic vascular damage. These studies have been made possible by the [...] Read more.
Background/Objectives: The complications of hypertension depend not only on the mean blood pressure (BP) but also on its variability (BPV). Recent studies suggest that the choroid may serve as an indicator of systemic vascular damage. These studies have been made possible by the increased availability of optical coherence tomography (OCT). The aim of our study was to analyze the relationship between short-term BP variability (STBPV) and choroid–retinal thickness in hypertensive patients. Methods: A total of 98 patients with a mean age of 49 ± 12 years were enrolled in the study. All participants underwent 24 h blood pressure (BP) monitoring to measure 24 h mean systolic (SBP) and diastolic blood pressure (DBP), along with their respective standard deviations (SD), the weighted SD of 24 h SBP and DBP, and the average real variability (ARV) of 24 h SBP and DBP. The choroid–retinal region was assessed using Swept-Source OCT, with choroidal thickness (ChT) and retinal thickness divided into three concentric rings, and their mean choroidal thickness (ChT-or) was calculated. Results: The choroidal thickness of the concentric rings was found to be inversely correlated with all ARV values of the monitored blood pressure means. In particular, a correlation was observed between the ARV of daytime DBP and ChT-or. This correlation remained statistically significant (β = −0.34; p = 0.02) even after adjustment for various confounding factors. The ARV of daytime DBP was the only STBPV index to maintain a significant association, in the multivariate analysis, with the central ring mean thickness (β = −0.314; p = 0.001) and the inner choroidal ring mean thickness (β = −0.262; p = 0.003). Conclusions: Our study demonstrated an independent negative association between short-term BP variability (STBPV), when expressed as ARV of daytime DBP, and choroidal thickness. This finding confirms the value of choroidal thickness as a marker of cardiovascular risk. Full article
(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)
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11 pages, 7623 KiB  
Article
Comparing Optical Coherence Tomography Angiography Metrics in Healthy Chinese and Caucasian Adults
by Inna Bujor, Jacqueline Chua, Bingyao Tan, Raluca Iancu, Ruxandra Pirvulescu, Aida Geamanu, Mihai Bostan, Eduard Toma, Diana Ionescu, Leopold Schmetterer and Alina Popa-Cherecheanu
J. Pers. Med. 2024, 14(8), 834; https://doi.org/10.3390/jpm14080834 - 6 Aug 2024
Cited by 2 | Viewed by 1398
Abstract
Background: The goal of the present study was to identify differences in retinal microvasculature between healthy Caucasians and healthy Asians in order to provide a better understanding of the variability between different ethnic groups. Methods: In this cross-sectional study, 191 healthy Chinese and [...] Read more.
Background: The goal of the present study was to identify differences in retinal microvasculature between healthy Caucasians and healthy Asians in order to provide a better understanding of the variability between different ethnic groups. Methods: In this cross-sectional study, 191 healthy Chinese and Caucasian participants were enrolled. They underwent optical coherence tomography angiography (OCTA) scans with Zeiss Cirrus HD-5000 Spectral-Domain with AngioPlex. Linear regression models were used to investigate the association of OCTA metrics with potential risk factors. Results: Whereas participants in both groups are comparable in age and sex, Chinese participants had a longer axial length, higher spherical equivalent, higher intraocular pressure (p < 0.001), and a significantly higher perfusion density of large vessels in the superficial capillary plexus (p < 0.001). Regarding the foveolar avascular area (FAZ), Chinese participants had a larger superficial FAZ, a wider superficial FAZ perimeter, and a more circular deep FAZ shape (p < 0.001). Conclusions: There are significant differences in the retinal vasculature between Caucasian and Asian eyes as measured using OCTA. This needs to be considered when developing normative databases. Whether such findings relate to inter-racial differences in the incidence of retinal vascular disease remains to be shown. Full article
(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)
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Review

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14 pages, 681 KiB  
Review
Fundus Autofluorescence in Diabetic Retinopathy
by Otilia-Maria Dumitrescu, Mihail Zemba, Daniel Constantin Brănișteanu, Ruxandra Angela Pîrvulescu, Madalina Radu and Horia Tudor Stanca
J. Pers. Med. 2024, 14(8), 793; https://doi.org/10.3390/jpm14080793 - 26 Jul 2024
Cited by 1 | Viewed by 1398
Abstract
Diabetic retinopathy is a leading cause of visual morbidity worldwide. Fundus autofluorescence is a rapid, non-invasive imaging modality that has gained increased popularity in recent years in the multimodal evaluation of diabetic retinopathy and, in particular, of diabetic macular oedema. Acquired using either [...] Read more.
Diabetic retinopathy is a leading cause of visual morbidity worldwide. Fundus autofluorescence is a rapid, non-invasive imaging modality that has gained increased popularity in recent years in the multimodal evaluation of diabetic retinopathy and, in particular, of diabetic macular oedema. Acquired using either a fundus camera or the confocal scanning laser ophthalmoscope, short-wavelength and near-infrared autofluorescence are the most used techniques in diabetic retinopathy. In diabetic macular oedema, short-wavelength autofluorescence, in its cystoid pattern, is useful for detecting cystoid macular oedema. Increased spot hyperautofluorescence in short-wavelength and granular changes in near-infrared autofluorescence correlate well with other imaging findings, indicating photoreceptor and retinal pigment epithelium damage and being associated with decreased visual acuity. While also being a marker of oxidative stress, increased short-wavelength autofluorescence in the setting of diabetic macular oedema appears to be a prognostic factor for poor visual outcome, even after the resolution of the intraretinal fluid. Autofluorescence also helps in the assessment of diabetic retinal pigment epitheliopathy and choroidopathy. Fundus autofluorescence is an evolving technology that will assist in gaining further insight into the pathophysiology of diabetic retinopathy and allow for a more comprehensive evaluation of these patients. Full article
(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)
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Other

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7 pages, 221 KiB  
Brief Report
Retinal Perfusion Analysis of Children with Diabetes Mellitus Type 1 Using Optical Coherence Tomography Angiography
by Jelena Vasilijevic, Igor Kovacevic, Snezana Polovina, Bojana Dacic-Krnjaja, Tanja Kalezic, Suzana Miletic, Leila Al Barri, Simona Stanca, Francis Ferrari and Maja Jesic
J. Pers. Med. 2024, 14(7), 696; https://doi.org/10.3390/jpm14070696 - 28 Jun 2024
Viewed by 956
Abstract
(1) Background: This study aims to evaluate retinal perfusion by optical coherence tomography angiography (OCTA) in pediatric patients with type 1 diabetes mellitus (T1D) without diabetic retinopathy (DR). (2) Methods: Thirty-one patients affected by T1D were enrolled. All participants were evaluated using OCTA. [...] Read more.
(1) Background: This study aims to evaluate retinal perfusion by optical coherence tomography angiography (OCTA) in pediatric patients with type 1 diabetes mellitus (T1D) without diabetic retinopathy (DR). (2) Methods: Thirty-one patients affected by T1D were enrolled. All participants were evaluated using OCTA. The foveal avascular zone (FAZ) and superficial and deep macular vessel density (VD) were analyzed. The correlation of these parameters with metabolic factors such as body mass index (BMI), glycated hemoglobin (HbA1c), and the type of insulin therapy (multiple daily injections, MDI vs. continuous subcutaneous insulin infusion, CSII) was determined. (3) Results: None of the OCTA parameters were significantly different between the groups. The patients’ HbA1C level did not influence any of the OCTA parameters. The use of MDI tended to reduce the parafoveal and perifoveal deep VD (p = 0.048 and p = 0.021, respectively) compared to CSII. An elevated BMI tended to increase the deep macular (p = 0.005) and perifoveal VD (p = 0.006). (4) Conclusion: VD and FAZ are normal in pubescent children with T1D without signs of DR. Treatment with CSII may be a better choice compared to MDI, as CSII may be protective against retinal microvascular damage. Our results indicate the need for new clinical parameters of glycemic control in addition to HbA1c which could assess the risk of DR. Full article
(This article belongs to the Special Issue Retinal Diseases: Mechanisms, Diagnosis and Treatments)
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