Precision Medicine for Retinal Disease

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy and Drug Delivery".

Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 9336

Special Issue Editors


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Guest Editor
1. Department of Ophthalmology, Pitié Salpêtrière University Hospital, Sorbonne Université, 75013 Paris, France
2. Department of Ophthalmology, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Université de Paris, 75010 Paris, France
Interests: vitreoretinal surgery; uveitis; diabetic macular oedema; age-related macular degeneration; basic science; mouse models

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Guest Editor
Department of Ophthalmology, Creteil Hospital, Paris Est University, Créteil, France
Interests: retinal imaging; age-related macular degeneration; retinal dystrophies; big data; artificial intelligence
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Special Issue Information

Dear Colleagues,

Retinal diseases, such as diabetic retinopathy and age-related macular degeneration, to name only the most common, can still cause profound and irreversible visual loss, leading to significant morbidity worldwide. In the abovementioned indications, intravitreal injections of anti-VEGFs, which have obtained regulatory authorizations for more than 10 years, have allowed for a drastic reduction in the rate of blindness and morbidity, but at the cost of frequent visits and treatments during their initial use. The current objective of treatments in retinal pathology is not only to ensure visual recovery but also to limit the therapeutic burden. New treatment protocols have therefore emerged in recent years, making it possible to propose a therapeutic regimen adapted to each retinal disease and to each patient. Nonvascular retinal pathologies have also seen the advent of new precision therapies, such as retinal dystrophies, for which gene therapy allows targeted therapies adapted to each mutation. Finally, vitreoretinal pathologies have not been left out; they benefit from state-of-the-art pretherapeutic assessment and surgical management adapted on a case-by-case basis. The future of the management of retinal diseases, whether medical or surgical, has a bright future ahead of it, with the watchword of the personalization of treatment. Artificial intelligence is expected to help with the identification of specific disease features that will benefit from personalized therapy. This Special Issue of the Journal of Personalized Medicine aims to highlight some of the latest studies in the field of retinal pathology and the application of precision medicine for people suffering from retinal diseases, should they be medical or surgical.

Dr. Sara Touhami
Dr. Alexandra Miere
Guest Editors

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Keywords

  • retinal disease
  • diabetic retinopathy
  • age-related macular degeneration
  • retinal pathology
  • visual recovery
  • targeted therapy
  • precision medicine
  • personalized treatment

Published Papers (6 papers)

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Research

8 pages, 439 KiB  
Communication
Alterations in Retinal Vessel Diameters in Patients with Retinal Vein Occlusion before and after Treatment with Intravitreal Ranibizumab
by Evaggelia Aissopou, Athanasios Protogerou, Panagiotis Theodossiadis, Petros P. Sfikakis and Irini Chatziralli
J. Pers. Med. 2023, 13(2), 351; https://doi.org/10.3390/jpm13020351 - 17 Feb 2023
Viewed by 1031
Abstract
Purpose: To investigate the alterations of retinal vessel diameters in patients with macular edema secondary to retinal vein occlusion (RVO), before and after treatment with intravitreal ranibizumab. Methods: Digital retinal images were obtained from 16 patients and retinal vessel diameters were [...] Read more.
Purpose: To investigate the alterations of retinal vessel diameters in patients with macular edema secondary to retinal vein occlusion (RVO), before and after treatment with intravitreal ranibizumab. Methods: Digital retinal images were obtained from 16 patients and retinal vessel diameters were measured before and three months after treatment with intravitreal ranibizumab with validated software to determine central retinal arteriolar and venular equivalents, as well as arteriolar to venular ratio. Results: In 17 eyes of 16 patients with macular edema secondary to RVO (10 with branch RVO and 6 with central RVO) aged 67 ± 10.2 years, we found that diameters of both retinal arterioles and venules were significantly decreased after intravitreal ranibizumab treatment. Specifically, the central retinal arteriolar equivalent was 215.2 ± 11.2 μm at baseline and 201.2 ± 11.1 μm at month 3 after treatment (p < 0.001), while the central retinal venular equivalent was 233.8 ± 29.6 μm before treatment versus 207.6 ± 21.7 μm at month 3 after treatment (p < 0.001). Conclusions: A significant vasoconstriction in both retinal arterioles and venules in patients with RVO was found at month 3 after intravitreal ranibizumab treatment compared to baseline. This could be of clinical importance, since the degree of vasoconstriction might be an early marker of treatment efficacy, compatible with the idea that hypoxia is the major trigger of VEGF in RVO. Further studies should be conducted to confirm our findings. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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12 pages, 1230 KiB  
Article
Atypical Foveal Hypoplasia in Best Disease
by Emmanuelle Moret, Raphaël Lejoyeux, Sophie Bonnin, Georges Azar, Jessica Guillaume, Chloé Le Cossec, Justine Lafolie, Anne-Sophie Alonso, Catherine Favard, Isabelle Meunier, Vivien Vasseur and Martine Mauget-Faÿsse
J. Pers. Med. 2023, 13(2), 337; https://doi.org/10.3390/jpm13020337 - 15 Feb 2023
Viewed by 904
Abstract
Purpose: To determine the prevalence and characteristics of foveal hypoplasia (also called fovea plana) in patients with Best disease using spectral-domain (SD) optical coherence tomography (OCT) and OCT-angiography (OCT-A). Design: A retrospective observational study including patients diagnosed with Best disease. Subjects and Participants: [...] Read more.
Purpose: To determine the prevalence and characteristics of foveal hypoplasia (also called fovea plana) in patients with Best disease using spectral-domain (SD) optical coherence tomography (OCT) and OCT-angiography (OCT-A). Design: A retrospective observational study including patients diagnosed with Best disease. Subjects and Participants: Fifty-nine eyes of thirty-two patients (fifteen females (46.9%) and seventeen males (53.1%), p = 0.9) diagnosed with Best disease were included. Patients’ eyes were categorized into two groups: Eyes with a fovea plana appearance (‘FP group’) and eyes without fovea plana appearance (‘no FP group’), based on the foveal appearance on B-scan SD-OCT. Methods and Main Outcome Measures: Cross-sectional OCT images were assessed for the persistence of inner retinal layers (IRL) and OCT-A was analyzed for the presence of a foveal avascular zone (FAZ), the size of which was determined when applicable. Results: Overall, 16 eyes (27.1%) of 9 patients had a fovea plana appearance (‘FP group’) with the persistence of IRL, and 43 eyes (72.9%) of 23 patients did not have fovea plana appearance (‘no FP group’). Among FP eyes, OCT-A performed in 13 eyes showed bridging vessels through the FAZ in 100% of eyes with OCT-A. Using Thomas classification, 14 out of the 16 eyes with fovea plana (87.5%) had atypical foveal hypoplasia, and the 2 others (12.5%) had a grade 1b fovea plana. Conclusion: In our series, foveal hypoplasia was present in 27.1% of patients with Best disease. OCT-A showed bridging vessels through the FAZ in all eyes. These findings highlight the microvascular changes associated with Best disease, which can be an early sign of the disease in patients with a family history. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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13 pages, 3895 KiB  
Article
Machine Learning-Based Automated Detection and Quantification of Geographic Atrophy and Hypertransmission Defects Using Spectral Domain Optical Coherence Tomography
by Gagan Kalra, Hasan Cetin, Jon Whitney, Sari Yordi, Yavuz Cakir, Conor McConville, Victoria Whitmore, Michelle Bonnay, Leina Lunasco, Antoine Sassine, Kevin Borisiak, Daniel Cohen, Jamie Reese, Sunil K. Srivastava and Justis. P. Ehlers
J. Pers. Med. 2023, 13(1), 37; https://doi.org/10.3390/jpm13010037 - 24 Dec 2022
Cited by 6 | Viewed by 2426
Abstract
The current study describes the development and assessment of innovative, machine learning (ML)-based approaches for automated detection and pixel-accurate measurements of regions with geographic atrophy (GA) in late-stage age-related macular degeneration (AMD) using optical coherence tomography systems. 900 OCT volumes, 100266 B-scans, and [...] Read more.
The current study describes the development and assessment of innovative, machine learning (ML)-based approaches for automated detection and pixel-accurate measurements of regions with geographic atrophy (GA) in late-stage age-related macular degeneration (AMD) using optical coherence tomography systems. 900 OCT volumes, 100266 B-scans, and en face OCT images from 341 non-exudative AMD patients with or without GA were included in this study from both Cirrus (Zeiss) and Spectralis (Heidelberg) OCT systems. B-scan and en face level ground truth GA masks were created on OCT B-scan where the segmented ellipsoid zone (EZ) line, retinal pigment epithelium (RPE) line, and bruchs membrane (BM) line overlapped. Two deep learning-based approaches, B-scan level and en face level, were trained. The OCT B-scan model had detection accuracy of 91% and GA area measurement accuracy of 94%. The en face OCT model had detection accuracy of 82% and GA area measurement accuracy of 96% with primary target of hypertransmission on en face OCT. Accuracy was good for both devices tested (92–97%). Automated lesion size stratification for CAM cRORA definition of 250um minimum lesion size was feasible. High-performance models for automatic detection and segmentation of GA area were achieved using OCT systems and deep learning. The automatic measurements showed high correlation with the ground truth. The en face model excelled at identification of hypertransmission defects. The models performance generalized well across device types tested. Future development will include integration of both models to enhance feature detection across GA lesions as well as isolating hypertransmission defects without GA for pre-GA biomarker extraction. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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17 pages, 3249 KiB  
Article
Swept-Source OCT Angiography Features in Patients after Macular Hole Surgery
by Sunjin Hwang, Min-Ho Kang, Mincheol Seong, Heeyoon Cho and Yong-Un Shin
J. Pers. Med. 2022, 12(9), 1493; https://doi.org/10.3390/jpm12091493 - 13 Sep 2022
Viewed by 1451
Abstract
This study aimed to compare findings of optical coherence tomography (OCT) angiography (OCTA) between eyes with nearly recovered and partially recovered outer retina after full-thickness macular hole (FTMH) surgery and to identify OCTA findings associated with visual acuity. We retrospectively reviewed 30 patients [...] Read more.
This study aimed to compare findings of optical coherence tomography (OCT) angiography (OCTA) between eyes with nearly recovered and partially recovered outer retina after full-thickness macular hole (FTMH) surgery and to identify OCTA findings associated with visual acuity. We retrospectively reviewed 30 patients who underwent surgery for idiopathic FTMH. Swept-source OCT (SS-OCT) and OCTA were performed preoperatively and at three and six months postoperatively. Subgroups were divided according to the integrity of the external limiting membranes and ellipsoid zones postoperatively. Correlations of best-corrected visual acuity six months postoperatively with SS-OCT and OCTA measurements were analyzed. There was no difference in preoperative retinal or choroidal vascular index on OCTA between the nearly and partially recovered groups. Six months postoperatively, the choriocapillaris flow-void area was significantly higher in the partially recovered group than in the fellow eye. The nearly recovered group showed better choroidal vascular flow, and vision at six months postoperatively correlated with the ratio of the operated eye’s choriocapillaris flow-void area to the fellow eye. Sufficient choriocapillaris flow on OCTA is associated with better outer retinal recovery and visual outcomes after macular hole surgery. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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11 pages, 2418 KiB  
Article
Choriocapillaris Flow Deficits Quantification in Hydroxychloroquine Retinopathy Using Swept-Source Optical Coherence Tomography Angiography
by Safa Halouani, Hoang Mai Le, Salomon Yves Cohen, Narimane Terkmane, Nabil Herda, Eric H. Souied and Alexandra Miere
J. Pers. Med. 2022, 12(9), 1445; https://doi.org/10.3390/jpm12091445 - 01 Sep 2022
Cited by 3 | Viewed by 1274
Abstract
This study aims to quantitatively analyze choriocapillaris (CC) alterations using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with hydroxychloroquine (HCQ) toxic retinopathy and to compare it to patients under HCQ without toxic retinopathy and to healthy controls. For image analysis, CC [...] Read more.
This study aims to quantitatively analyze choriocapillaris (CC) alterations using swept-source optical coherence tomography angiography (SS-OCTA) in eyes presenting with hydroxychloroquine (HCQ) toxic retinopathy and to compare it to patients under HCQ without toxic retinopathy and to healthy controls. For image analysis, CC en-face slabs were extracted from macular 6 × 6 mm SS-OCTA scans and a compensation method followed by the Phansalkar local thresholding was performed. Percentage of flow deficits (FD%) and other related biomarkers were computed for comparison. Fourteen eyes (7 patients) presenting with HCQ toxic retinopathy, sixty-two eyes (31 patients) under HCQ without signs of toxicity, and sixty eyes of 34 healthy controls were included. With regards to FD%, FD average size, and FD number there was a significant difference between the three groups (p < 0.05 with radius 4 and radius 8 pixels). Eyes presenting with HCQ toxicity had significantly higher FD% and average size, and a significantly lower number of FDs, with both radius 4 and 8 pixels. In conclusion, FD quantification demonstrates that CC involvement is present in HCQ toxic retinopathy, therefore giving pathophysiological insights with regards to the CC as being either the primary or secondary target of HCQ toxicity. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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11 pages, 736 KiB  
Article
Association between Obstetric Complications and Intravitreal Anti-Vascular Endothelial Growth Factor Agents or Intravitreal Corticosteroids
by Inès Ben Ghezala, Anne-Sophie Mariet, Eric Benzenine, Marc Bardou, Alain Marie Bron, Pierre-Henry Gabrielle, Florian Baudin, Catherine Quantin and Catherine Creuzot-Garcher
J. Pers. Med. 2022, 12(9), 1374; https://doi.org/10.3390/jpm12091374 - 25 Aug 2022
Cited by 4 | Viewed by 1510
Abstract
This nationwide population-based cohort study aimed to describe the use of intravitreal injections (IVTs) of anti-vascular endothelial growth factor (anti-VEGF) agents and corticosteroids in pregnant women in France and to report on the incidence of obstetric and neonatal complications. All pregnant women in [...] Read more.
This nationwide population-based cohort study aimed to describe the use of intravitreal injections (IVTs) of anti-vascular endothelial growth factor (anti-VEGF) agents and corticosteroids in pregnant women in France and to report on the incidence of obstetric and neonatal complications. All pregnant women in France who received any anti-VEGF or corticosteroid IVT during pregnancy or in the month preceding pregnancy from 1 January 2009 to 31 December 2018 were identified in the national medico-administrative databases. Between 2009 and 2018, there were 5,672,921 IVTs performed in France. Among these IVTs, 228 anti-VEGF or corticosteroid IVTs were administered to 139 women during their pregnancy or in the month preceding their pregnancy. Spontaneous abortion or the medical termination of pregnancy occurred in 10 women (16.1%) who received anti-VEGF agents and in one (3.1%) of the women who received corticosteroids (p = 0.09). This is the first national cohort study of pregnant women treated with anti-VEGF or corticosteroid IVTs. We found a high incidence of obstetric complications in pregnant women treated with anti-VEGF or corticosteroid IVTs but could not demonstrate a statistically significant association between the intravitreal agents and these complications. These agents should continue to be used with great caution in pregnant women. Full article
(This article belongs to the Special Issue Precision Medicine for Retinal Disease)
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