New Advances in Optic Nerve Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Ophthalmology".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 11481

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Guest Editor
Eye Unit, “Luigi Curto” Hospital, Azienda Sanitaria Locale Salerno, 84035 Polla, Salerno, Italy
Interests: clinical ophthalmology; optical coherence tomography; retinal imaging; optic nerve; ocular ultrasonography
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Special Issue Information

Dear Colleagues,

The presence of papilledema, a marker of potential intracranial hypertension or optic nerve disease, can sometimes be exceedingly difficult to diagnose, despite recent advancements in ophthalmic technology. Optic nerve diseases, also known as optic neuropathies, are neurodegenerative disorders that can put patients' vision at serious risk, especially if they are not identified early.

In recent years, ocular diagnostic technology (ocular ultrasound, OCT, etc.), as well as new genetic discoveries, have provided new answers and increased our knowledge about this complex group of pathologies, which poses a compelling challenge in ophthalmology but also in the medical field in general.

The purpose of this Special Issue will be to promote research on the new advances in optic nerve diseases, going from etiology, to diagnosis and to treatment, trying to better understand the nature of these challenging diseases and how to deal with them.

Dr. Livio Vitiello
Guest Editor

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Keywords

  • optic nerve
  • optic nerve diseases
  • optic neuritis
  • glaucoma
  • optic neuropathies
  • optical coherence tomography
  • OCT
  • ocular ultrasonography

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Published Papers (8 papers)

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Research

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10 pages, 248 KiB  
Article
Investigating the Relationship between Telomere-Related Gene Variants and Leukocyte Telomere Length in Optic Neuritis Patients
by Monika Duseikaite, Greta Gedvilaite, Paulius Mikuzis, Juste Andrulionyte, Loresa Kriauciuniene and Rasa Liutkeviciene
J. Clin. Med. 2024, 13(9), 2694; https://doi.org/10.3390/jcm13092694 - 3 May 2024
Viewed by 1024
Abstract
Optic neuritis (ON) is a condition marked by optic nerve inflammation due to various potential triggers. Research indicates a link between telomeres and inflammation, as studies demonstrate that inflammation can lead to increased telomere shortening. Aim: We aimed to determine the associations [...] Read more.
Optic neuritis (ON) is a condition marked by optic nerve inflammation due to various potential triggers. Research indicates a link between telomeres and inflammation, as studies demonstrate that inflammation can lead to increased telomere shortening. Aim: We aimed to determine the associations of telomere-related telomeric repeat binding factor 1 (TERF1) rs1545827, rs10107605, and telomeric repeat binding factor 2 (TERF2) rs251796 polymorphisms and relative leukocyte telomere length (LTL) with the occurrence of ON. Methods: In this research, a total of 73 individuals diagnosed with optic neuritis (ON) were studied and the control group included 170 individuals without any health issues. The DNA samples were obtained from peripheral blood leukocytes, which were purified using the DNA salting-out technique. Real-time polymerase chain reaction (RT-PCR) assessed single-nucleotide polymorphisms (SNPs) and relative leukocyte telomere lengths (LTL). The data obtained were processed and analyzed using the “IBM SPSS Statistics 29.0” program. Results: Our study revealed the following results: in the male group, TERF2 rs251796 (AA, AG, and TT) statistically significantly differed between the long and short telomere group, with frequencies of 65.7%, 22.9%, and 2.0% in long telomeres, compared to 35.1%, 56.8%, and 8.1% in the short telomere group (p = 0.013). The TERF2 rs251796 CT genotype, compared to CC, under the codominant genetic model, was associated with 4.7-fold decreased odds of telomere shortening (p = 0.005). Meanwhile, CT+TT genotypes, compared to CC under the dominant genetic model, were associated with 3.5-fold decreased odds of telomere shortening (p = 0.011). Also, the CT genotype, compared to CC+TT, under the overdominant genetic model, was associated with 4.4-fold decreased odds of telomere shortening (p = 0.004). Conclusions: The current evidence may suggest a protective role of TERF2 rs251796 in the occurrence of ON in men. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
9 pages, 213 KiB  
Article
No Changes in Keratometry Readings and Anterior Chamber Depth after XEN Gel Implantation in Patients with Glaucoma
by Filippo Tatti, Claudia Tronci, Filippo Lixi, Giuseppe Demarinis, Sviatlana Kuzmich, Enrico Peiretti, Maurizio Fossarello and Giuseppe Giannaccare
J. Clin. Med. 2024, 13(9), 2537; https://doi.org/10.3390/jcm13092537 - 26 Apr 2024
Viewed by 891
Abstract
Background: This study aimed to compare keratometry and anterior chamber depth (ACD) changes after XEN implantation in primary open-angle glaucoma (POAG) cases over a 3-month follow-up period. Methods: Twenty patients with POAG who underwent XEN63 implantation, either standalone or combined with cataract surgery, [...] Read more.
Background: This study aimed to compare keratometry and anterior chamber depth (ACD) changes after XEN implantation in primary open-angle glaucoma (POAG) cases over a 3-month follow-up period. Methods: Twenty patients with POAG who underwent XEN63 implantation, either standalone or combined with cataract surgery, were included. Preoperative data, including best-corrected visual acuity (BCVA), refraction, gonioscopy, ophthalmoscopy, intraocular pressure (IOP) evaluation, and axial length, were collected. Corneal topography and ACD measurements were assessed preoperatively and at postoperative days 1, 7, 15, 30, 60, and 90. Each patient’s eye that underwent XEN surgery was included in the study group, with the fellow eye serving as a control. Results: In the study group, there was a significant decrease in IOP after XEN stent implantation at all investigated time intervals (p < 0.05). However, changes in mean ACD did not show statistically significant differences at any follow-up examination in both the study and control groups. Additionally, keratometry readings revealed no significant changes in total astigmatism or steep keratometry values in either group. Conclusions: XEN implantation in POAG cases resulted in a significant decrease in IOP over the 3-month follow-up period. However, there were no significant changes observed in mean ACD or keratometry readings, indicating stability in these parameters post-XEN implantation. These findings suggest that XEN implantation may be an effective option for IOP reduction without affecting corneal curvature or ACD in POAG patients. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
11 pages, 2242 KiB  
Article
Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy
by Marco Lombardo, Andrea Cusumano, Raffaele Mancino, Francesco Aiello, Roberto Pietro Sorge, Carlo Nucci and Massimo Cesareo
J. Clin. Med. 2024, 13(7), 1971; https://doi.org/10.3390/jcm13071971 - 28 Mar 2024
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Abstract
Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure and short-wavelength automated perimetry (SWAP) values in this pathology. Methods: In this cross-sectional case-control study, we assessed the correlation [...] Read more.
Background: Blue-yellow axis dyschromatopsia is well-known in Autosomal Dominant Optic Atrophy (ADOA) patients, but there were no data on the correlation between retinal structure and short-wavelength automated perimetry (SWAP) values in this pathology. Methods: In this cross-sectional case-control study, we assessed the correlation between best corrected visual acuity (BCVA), standard automated perimetry (SAP), SWAP, and optical coherence tomography (OCT) parameters of 9 ADOA patients compared with healthy controls. Correlation analysis was performed between BCVA, mean deviation, pattern standard deviation (PSD), and fovea sensitivity (FS) values and the OCT thickness of each retinal layer and the peripapillary retinal nerve fiber layer (pRNFL). Results: The following significant and strong correlations were found: between BCVA and ganglion cell layer (GCL) and the global (G) pRNFL thicknesses; between SAP FS and GCL and the G-pRNFL thicknesses; between SWAP PSD and total retina, GCL, inner plexiform layer, inner nuclear layer, inner retinal layer and the temporal pRNFL thicknesses. We found a constant shorter duration of the SITA-SWAP compared with the SITA-STANDARD strategy. Conclusions: SWAP, SAP, and BCVA values provided relevant clinical information about retinal involvement in our ADOA patients. The perimetric functional parameters that seemed to correlate better with structure involvement were FS on SAP and PSD on SWAP. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
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8 pages, 205 KiB  
Article
The Effect of Esophagogastroduodenoscopy on Intraocular Pressure
by Maddalena De Bernardo, Antonella Santonicola, Marco Gioia, Livio Vitiello, Ferdinando Cione, Sergio Pagliarulo, Paola Iovino and Nicola Rosa
J. Clin. Med. 2024, 13(5), 1224; https://doi.org/10.3390/jcm13051224 - 21 Feb 2024
Cited by 1 | Viewed by 790
Abstract
Background: Esophagogastroduodenoscopy (EGD) is an endoscopic examination of the upper gastrointestinal tract that requires insufflation with gas, leading to intra-abdominal hypertension (IAH). There is evidence suggesting that IAH positively correlates with intracranial pressure (ICP) and possibly with intraocular pressure (IOP). The aim of [...] Read more.
Background: Esophagogastroduodenoscopy (EGD) is an endoscopic examination of the upper gastrointestinal tract that requires insufflation with gas, leading to intra-abdominal hypertension (IAH). There is evidence suggesting that IAH positively correlates with intracranial pressure (ICP) and possibly with intraocular pressure (IOP). The aim of this study was to examine the effect of a routine screening EGD on the IOP. Methods: In this observational study, 25 patients were recruited; 15 males with a mean age of 50 ± 18 years and 10 females with a mean age of 45 ± 14 years. EGD was conducted under sedation in 21 subjects. Both eyes’ IOP measurements were performed using Tonopen Avia in the sitting and left lateral decubitus positions before sedation and the start of EGD, and subsequently in the left lateral decubitus position when the endoscope reached the duodenum (D2) and at the end of the procedure. The final measurement was performed in the sitting position 10 min after the end of the procedure. Results: The mean IOP in the sitting position was 15.16 ± 2.27 mmHg, and in the left lateral decubitus position, 15.68 ± 2.82 mmHg. When the gastroscope entered the D2, it was 21.84 ± 6.55 mmHg, at the end of the procedure, 15.80 ± 3.25 mmHg, and 10 min later, 13.12 ± 3.63 mmHg. There was a statistically significant IOP increase when the gastroscope entered the duodenum (p < 0.01). At the end of the gastroscopy, the IOP significantly decreased compared to the one registered when the gastroscope entered the D2 (p < 0.001) and it became similar to the values measured before the EGD, in the same left lateral decubitus position (p > 0.05). Conclusion: Significant changes in IOP were observed during the EGD. IOP fluctuations during EGD should be taken into account, especially in patients that need repeated EGDs during their life or in patients with glaucoma. Further studies are needed to better understand the short-effect and long-effect influence of an IOP increase in these patients. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
12 pages, 619 KiB  
Article
Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266)
by Greta Gedvilaite, Monika Duseikaitė, Gabrielė Dubinskaite, Loresa Kriauciuniene, Reda Zemaitiene and Rasa Liutkevicienė
J. Clin. Med. 2024, 13(1), 10; https://doi.org/10.3390/jcm13010010 - 19 Dec 2023
Viewed by 862
Abstract
The aim of the study was to evaluate the associations of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) gene polymorphisms and STAT4 serum level in patients with optic neuritis. Eighty-one subjects with optic neuritis (ON) and 158 healthy subjects participated in the study. Genotyping was [...] Read more.
The aim of the study was to evaluate the associations of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) gene polymorphisms and STAT4 serum level in patients with optic neuritis. Eighty-one subjects with optic neuritis (ON) and 158 healthy subjects participated in the study. Genotyping was performed using real-time polymerase chain reaction to obtain data. STAT4 serum level was determined using the ELISA method. Statistical analysis revealed that STAT4 rs7574865 allele G was statistically significantly more frequent in patients with ON and multiple sclerosis (MS) than in the control group (84.38% vs. 65.93%, p = 0.003). STAT4 rs10168266 allele C was statistically significantly more frequent in the ON group with MS than in the control group (89.06% vs. 71.75%, p = 0.003). The haplotypes G-G-A-C and C-T-A-T of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) were associated with an 11.5- and 19.5-fold increased odds of ON occurrence (p = 0.003; p = 0.008, respectively). In optic neuritis without MS occurrence, STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) haplotypes G-G-A-C and C-T-A-T were found to be associated with 32.6- and 9-fold increased odds of ON without MS (p = 0.002, p = 0.016, respectively). The current findings may indicate a risk role of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) G-G-A-C and C-T-A-T haplotypes in the occurrence of optic neuritis. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
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18 pages, 3351 KiB  
Article
Morpho-Functional Assessment of Retinal Ganglion Cells and Visual Pathways in Patients with Optic Disc Drusen: Superficial Drusen Visible Height as a Marker of Impairment
by Giulio Antonelli, Lucia Ziccardi, Lucilla Barbano, Antonio Di Renzo and Vincenzo Parisi
J. Clin. Med. 2023, 12(10), 3432; https://doi.org/10.3390/jcm12103432 - 12 May 2023
Cited by 1 | Viewed by 1335
Abstract
The aim of this study was to assess the morpho-functional involvement of the retinal ganglion cells (RGCs) and of the visual pathways in patients with superficial (ODD-S) or deep (ODD-D) optic disc drusen. This study enrolled 17 patients with ODD (mean age of [...] Read more.
The aim of this study was to assess the morpho-functional involvement of the retinal ganglion cells (RGCs) and of the visual pathways in patients with superficial (ODD-S) or deep (ODD-D) optic disc drusen. This study enrolled 17 patients with ODD (mean age of 59.10 ± 12.68 years) providing 19 eyes and 20 control subjects (mean age 58.62 ± 8.77 years) providing 20 eyes. We evaluated the following: best-corrected visual acuity, visual field mean deviation (MD), the amplitude (A) of Pattern Electroretinogram (PERG), the implicit time (IT) and A of Visual Evoked Potentials (VEPs), retinal nerve fiber layer thickness (RNFL-T) and ganglion cell thickness (GC-T). In ODD-S eyes, the drusen visible height was measured. ODD-D and ODD-S were detected in 26.3% and 73.7% of ODD eyes, respectively. Significantly (p < 0.01) reduced MD, PERG A, VEP amplitude, RNFL-T and GC-T values and significantly (p < 0.01) increased VEP IT values were found in the ODD Group as compared to the Control one. In the ODD Group, no significant correlation (p > 0.01) between PERG As and VEP ITs was found. In ODD-S, the visible height was significantly correlated (p < 0.01) with reduced MD, PERG As and RNFL-T and with increased PSD and VEP IT values. Our findings suggest that ODD might induce morpho-functional changes in RGCs and their fibers and an unrelated visual pathway dysfunction leading or not leading to visual field defects. The observed morpho-functional impairment should be ascribed to an alteration in retrograde (from the axons to the RGCs) and anterograde (from the RGCs up to the visual cortex) axoplasmic transport. In ODD-S eyes, a minimum visible height of 300 microns represented the threshold for the abnormalities, suggesting that “the higher the ODD, the worse the impairment”. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
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Review

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20 pages, 350 KiB  
Review
Optic Nerve Neuroprotection in Glaucoma: A Narrative Review
by Angela D’Angelo, Livio Vitiello, Filippo Lixi, Giulia Abbinante, Alessia Coppola, Vincenzo Gagliardi, Alfonso Pellegrino and Giuseppe Giannaccare
J. Clin. Med. 2024, 13(8), 2214; https://doi.org/10.3390/jcm13082214 - 11 Apr 2024
Cited by 4 | Viewed by 2805
Abstract
In recent years, researchers have been interested in neuroprotective therapies as a cutting-edge therapeutic strategy to treat neurodegenerative disorders by shielding the brain system from harmful events. Millions of individuals worldwide suffer from glaucoma, an ocular neurodegenerative disease characterized by gradual excavation of [...] Read more.
In recent years, researchers have been interested in neuroprotective therapies as a cutting-edge therapeutic strategy to treat neurodegenerative disorders by shielding the brain system from harmful events. Millions of individuals worldwide suffer from glaucoma, an ocular neurodegenerative disease characterized by gradual excavation of the optic nerve head, retinal axonal damage, and consequent visual loss. The pathology’s molecular cause is still mostly unknown, and the current treatments are not able to alter the disease’s natural progression. Thus, the modern approach to treating glaucoma consists of prescribing medications with neuroprotective properties, in line with the treatment strategy suggested for other neurodegenerative diseases. For this reason, several naturally derived compounds, including nicotinamide and citicoline, have been studied throughout time to try to improve glaucoma management by exploiting their neuroprotective properties. The purpose of this review is to examine the naturally derived compounds that are currently utilized in clinical practice for neuroprotection in glaucomatous patients based on scientific data, emphasizing these compounds’ pivotal mechanism of action as well as their proven therapeutic and neuroprotective benefits. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
13 pages, 890 KiB  
Review
ROCK Inhibitors in Corneal Diseases and Glaucoma—A Comprehensive Review of These Emerging Drugs
by Luca Pagano, Jason William Lee, Matteo Posarelli, Giuseppe Giannaccare, Stephen Kaye and Alfredo Borgia
J. Clin. Med. 2023, 12(21), 6736; https://doi.org/10.3390/jcm12216736 - 25 Oct 2023
Cited by 3 | Viewed by 2134
Abstract
Rho kinase (ROCK) inhibitors have gained significant attention as emerging novel treatment options in the field of ophthalmology in recent years. The evidence supporting their efficacy in glaucoma and corneal pathology includes both in vitro and clinical studies. Among the available options, ripasudil [...] Read more.
Rho kinase (ROCK) inhibitors have gained significant attention as emerging novel treatment options in the field of ophthalmology in recent years. The evidence supporting their efficacy in glaucoma and corneal pathology includes both in vitro and clinical studies. Among the available options, ripasudil and netarsudil have emerged as the leading ROCK inhibitors, and some countries have approved these therapeutic options as treatments for glaucoma. Various dosing regimens have been studied, including monotherapy and combination therapy, especially for patients with secondary glaucoma who are already on multiple medications. Another rising application of ROCK inhibitors includes their use as an adjunct in surgical procedures such as Descemetorhexis Without Endothelial Keratoplasty (DWEK), Descemet Stripping Only (DSO) to accelerate visual recovery, glaucoma surgeries to reduce scarring process and allow better intraocular pressure (IOP) control, or after complicated anterior segment surgery to treat corneal oedema. This article provides a comprehensive overview of the existing literature in the field, offering recommendations for prescribing ROCK inhibitors and also discussing patient selection, drug efficacy, and possible adverse effects. Full article
(This article belongs to the Special Issue New Advances in Optic Nerve Diseases)
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