Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline
remove_circle_outline

Journals

Article Types

Countries / Regions

Search Results (21)

Search Parameters:
Keywords = optic disc neuropathy

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
16 pages, 4355 KiB  
Review
Swept-Source Optical Coherence Tomography in the Diagnosis and Monitoring of Optic Nerve Neuropathy in Patients with Wernicke’s Encephalopathy Due to Hyperemesis Gravidarum
by Magdalena Kal, Michał Brzdęk, Justyna Tracz, Paweł Szadkowski and Dorota Zarębska-Michaluk
J. Clin. Med. 2025, 14(11), 3849; https://doi.org/10.3390/jcm14113849 - 30 May 2025
Viewed by 514
Abstract
Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search [...] Read more.
Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search was conducted in the PubMed database to select high-quality reviews and original articles on the use of swept-source OCT for assessing optic nerve involvement in WE due to hyperemesis gravidarum. Results: WE is a potentially fatal neuropsychiatric syndrome caused by thiamine deficiency due to various causes, like alcoholism, malnutrition, and prolonged parenteral nutrition. This condition can cause neurological disorders such as imbalance, altered mental status, nystagmus, and ophthalmoplegia. Sometimes, there is also a deterioration of visual acuity with swelling of the optic disc. OCT is a non-invasive imaging tool that can detect optic nerve involvement in WE by assessing peripapillary retinal nerve fiber layer (pRNFL) thickness. In the acute phase, optic disc edema and increased pRNFL thickness may be observed, while chronic-phase changes include optic nerve atrophy and pRNFL thinning. WE may occur in the course of hyperemesis gravidarum in pregnant women. We present a case of a 23-year-old woman at 14 weeks of gestation with WE due to severe hyperemesis gravidarum, manifesting as visual impairment and neurological deficits. MRI confirmed the diagnosis, while OCT revealed transient pRNFL thickening followed by optic nerve atrophy. Conclusions: Early diagnosis and thiamine supplementation are crucial to preventing severe complications. OCT is a valuable tool for detecting and tracking optic nerve changes in WE. Full article
(This article belongs to the Section Nuclear Medicine & Radiology)
Show Figures

Figure 1

14 pages, 3960 KiB  
Article
Early Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis
by Julian A. Zimmermann, Martin Dominik Leclaire, Jens Julian Storp, Tobias J. Brix, Nicole Eter, Julia Krämer and Julia Biermann
J. Clin. Med. 2025, 14(6), 1998; https://doi.org/10.3390/jcm14061998 - 15 Mar 2025
Viewed by 773
Abstract
Background/Objectives: Leber hereditary optic neuropathy (LHON) is often misdiagnosed in its early stages as idiopathic single isolated optic neuritis (SION) or multiple-sclerosis-associated optic neuritis (MS-ON) due to the young age of the patients, the subacute vision loss, and the central visual field [...] Read more.
Background/Objectives: Leber hereditary optic neuropathy (LHON) is often misdiagnosed in its early stages as idiopathic single isolated optic neuritis (SION) or multiple-sclerosis-associated optic neuritis (MS-ON) due to the young age of the patients, the subacute vision loss, and the central visual field defect. The aim of this retrospective study was to evaluate changes in the peripapillary RNFL and GCLT over time in patients with early LHON, MS-ON, and SION in order to differentiate Leber hereditary optic neuropathy (LHON) from optic neuritis (ON) in the early stages of the disease. Methods: Patients with LHON and ON (either idiopathic single isolated optic neuritis (SION) or ON as the first symptom of relapsing–remitting multiple sclerosis (MS-ON) were included. Optical coherence tomography (OCT) scans were reviewed. The inclusion criteria were at least one follow-up OCT examination and a definite diagnosis after examination. Changes in the peripapillary retinal nerve fibre layer (RNFL) and macular ganglion cell layer thickness (GCLT) in both groups were evaluated over time and compared with normative data. The analysis focused on the early phase (0–45 days) after symptom onset. Results: Nine LHON patients with early OCT scans and twenty patients with ON were included. Quantitative OCT analysis showed greater RNFL swelling in LHON compared to ON during the first 60 days after symptom onset. Between day 61 and day 120, subnormal RNFL values were observed in both groups compared to controls. Thereafter, the RNFL decreased continuously and severely in the LHON group. The RNFL of ON patients did not show a clear progression after day 120. The GCLT in five LHON eyes showed a strong and solid decrease from day 0 to day 45, which was stronger than the moderate atrophy measured in ON eyes. Continuous GCL atrophy was measured until day 121 in LHON, after which a floor effect was reached. The GCLT in the inner nasal and inner inferior sectors was significantly smaller in LHON compared to ON patients on days 0–45. Conclusions: Thinning of the GCLT occurs at an early stage in LHON patients. Thus, GCLT may become a diagnostic tool to differentiate LHON from ON in the early phase of disease. Full article
(This article belongs to the Section Ophthalmology)
Show Figures

Figure 1

11 pages, 919 KiB  
Article
Performance of a Deep Learning System and Performance of Optometrists for the Detection of Glaucomatous Optic Neuropathy Using Colour Retinal Photographs
by Catherine L. Jan, Algis Vingrys, Jacqueline Henwood, Xianwen Shang, Christian Davey, Peter van Wijngaarden, George Y. X. Kong, Jennifer C. Fan Gaskin, Bernardo P. Soares Bezerra, Randall S. Stafford and Mingguang He
Bioengineering 2024, 11(11), 1139; https://doi.org/10.3390/bioengineering11111139 - 13 Nov 2024
Cited by 1 | Viewed by 1354
Abstract
Background/Objectives: Glaucoma is the leading cause of irreversible blindness, with a significant proportion of cases remaining undiagnosed globally. The interpretation of optic disc and retinal nerve fibre layer images poses challenges for optometrists and ophthalmologists, often leading to misdiagnosis. AI has the potential [...] Read more.
Background/Objectives: Glaucoma is the leading cause of irreversible blindness, with a significant proportion of cases remaining undiagnosed globally. The interpretation of optic disc and retinal nerve fibre layer images poses challenges for optometrists and ophthalmologists, often leading to misdiagnosis. AI has the potential to improve diagnosis. This study aims to validate an AI system (a convolutional neural network based on the Inception-v3 architecture) for detecting glaucomatous optic neuropathy (GON) using colour fundus photographs from a UK population and to compare its performance against Australian optometrists. Methods: A retrospective external validation study was conducted, comparing AI’s performance with that of 11 AHPRA-registered optometrists in Australia on colour retinal photographs, evaluated against a reference (gold) standard established by a panel of glaucoma specialists. Statistical analyses were performed using sensitivity, specificity, and area under the receiver operating characteristic curve (AUROC). Results: For referable GON, the sensitivity of the AI (33.3% [95%CI: 32.4–34.3) was significantly lower than that of optometrists (65.1% [95%CI: 64.1–66.0]), p < 0.0001, although with significantly higher specificity (AI: 97.4% [95%CI: 97.0–97.7]; optometrists: 85.5% [95%CI: 84.8–86.2], p < 0.0001). The optometrists demonstrated significantly higher AUROC (0.753 [95%CI: 0.744–0.762]) compared to AI (0.654 [95%CI: 0.645–0.662], p < 0.0001). Conclusion: The AI system exhibited lower performance than optometrists in detecting referable glaucoma. Our findings suggest that while AI can serve as a screening tool, both AI and optometrists have suboptimal performance for the nuanced diagnosis of glaucoma using fundus photographs alone. Enhanced training with diverse populations for AI is essential for improving GON detection and addressing the significant challenge of undiagnosed cases. Full article
(This article belongs to the Special Issue Artificial Intelligence Applications in Ophthalmology)
Show Figures

Figure 1

14 pages, 253 KiB  
Review
Novel Approaches for the Early Detection of Glaucoma Using Artificial Intelligence
by Marco Zeppieri, Lorenzo Gardini, Carola Culiersi, Luigi Fontana, Mutali Musa, Fabiana D’Esposito, Pier Luigi Surico, Caterina Gagliano and Francesco Saverio Sorrentino
Life 2024, 14(11), 1386; https://doi.org/10.3390/life14111386 - 28 Oct 2024
Cited by 3 | Viewed by 2819
Abstract
Background: If left untreated, glaucoma—the second most common cause of blindness worldwide—causes irreversible visual loss due to a gradual neurodegeneration of the retinal ganglion cells. Conventional techniques for identifying glaucoma, like optical coherence tomography (OCT) and visual field exams, are frequently laborious and [...] Read more.
Background: If left untreated, glaucoma—the second most common cause of blindness worldwide—causes irreversible visual loss due to a gradual neurodegeneration of the retinal ganglion cells. Conventional techniques for identifying glaucoma, like optical coherence tomography (OCT) and visual field exams, are frequently laborious and dependent on subjective interpretation. Through the fast and accurate analysis of massive amounts of imaging data, artificial intelligence (AI), in particular machine learning (ML) and deep learning (DL), has emerged as a promising method to improve the early detection and management of glaucoma. Aims: The purpose of this study is to examine the current uses of AI in the early diagnosis, treatment, and detection of glaucoma while highlighting the advantages and drawbacks of different AI models and algorithms. In addition, it aims to determine how AI technologies might transform glaucoma treatment and suggest future lines of inquiry for this area of study. Methods: A thorough search of databases, including Web of Science, PubMed, and Scopus, was carried out to find pertinent papers released until August 2024. The inclusion criteria were limited to research published in English in peer-reviewed publications that used AI, ML, or DL to diagnose or treat glaucoma in human subjects. Articles were chosen and vetted according to their quality, contribution to the field, and relevancy. Results: Convolutional neural networks (CNNs) and other deep learning algorithms are among the AI models included in this paper that have been shown to have excellent sensitivity and specificity in identifying glaucomatous alterations in fundus photos, OCT scans, and visual field tests. By automating standard screening procedures, these models have demonstrated promise in distinguishing between glaucomatous and healthy eyes, forecasting the course of the disease, and possibly lessening the workload of physicians. Nonetheless, several significant obstacles remain, such as the requirement for various training datasets, outside validation, decision-making transparency, and handling moral and legal issues. Conclusions: Artificial intelligence (AI) holds great promise for improving the diagnosis and treatment of glaucoma by facilitating prompt and precise interpretation of imaging data and assisting in clinical decision making. To guarantee wider accessibility and better patient results, future research should create strong generalizable AI models validated in various populations, address ethical and legal matters, and incorporate AI into clinical practice. Full article
(This article belongs to the Special Issue Cornea and Anterior Eye Diseases: 2nd Edition)
11 pages, 3264 KiB  
Article
Optic Disc Swelling in Cancer Patients: Etiology and Implications
by Yacoub A. Yousef, Isra M. Sid Ahmed, Danah Kanj Ahmad, Mona Mohammad, Hala Makahleh, Reem AlJabari, Fawzieh Alkhatib, Mario Damiano Toro, Robert Rejdak, Mustafa Mehyar and Ibrahim Alnawaiseh
J. Clin. Med. 2023, 12(22), 7140; https://doi.org/10.3390/jcm12227140 - 17 Nov 2023
Cited by 2 | Viewed by 2587
Abstract
Purpose: To analyze the etiology and implications of optic disc swelling in cancer patients treated at a specialized tertiary cancer center in Jordan. Methods: This was a retrospective study of all cancer patients who had optic disc swelling between January 2019 and December [...] Read more.
Purpose: To analyze the etiology and implications of optic disc swelling in cancer patients treated at a specialized tertiary cancer center in Jordan. Methods: This was a retrospective study of all cancer patients who had optic disc swelling between January 2019 and December 2020 at King Hussein Cancer Center (KHCC). Patients’ data included age, sex, laterality, visual acuity, and the underlying cause and management for the optic disc swelling. Results: Optic disc swelling was present in 58 cancer patients (96 eyes), with 38 (65%) having bilateral involvement. Among these, 33 (57%) were female, and 43 (74%) were ≤40 years old. At diagnosis, 58 (63%) eyes had a best-corrected visual acuity (BCVA) better than 0.5, improving to 73 (76%) eyes at the last follow-up. High intracranial pressure (ICP) was the most common primary cause (30 patients/52%), followed by tumor infiltration of the optic nerve (10 patients/17%), optic nerve compression (7 patients/12%), and optic nerve inflammation (5 patients/9%). Four patients had pseudopapilledema. Among the 30 patients with high ICP, CNS tumors were predominant (21 patients/70%), with only 3 having idiopathic intracranial hypertension. Medications, including ATRA (All-Trans Retinoic Acid) and systemic steroids, contributed to increased ICP in six patients (20%). BCVA was less than 0.5 in all eyes (100%) affected by tumor infiltration, optic nerve inflammation, and ischemic optic neuropathy, while only eight eyes (14%) with optic disc swelling due to elevated ICP had a BCVA less than 0.5 (p < 0.0001). Management included steroids (53 patients/91%), acetazolamide (30 patients/52%), chemotherapy (20 patients/34%), radiation therapy (13 patients/22%), frequent lumbar punctures (12 patients/21%), and surgery (28 patients/48%). Visual acuity improved in 40 eyes (42%), with only 4 eyes (4%) experiencing deterioration. At a 12-month median follow-up period, 11 (19%) patients were dead, 10 (10%) eyes had poor vision (BCVA less than 0.1), and 21 (22%) eyes had BCVA 0.5 or better. Conclusions: Various underlying pathologies can induce optic disc swelling in cancer patients, a grave condition capable of causing vision loss. Notably, tumor infiltration of the optic nerve tends to result in more profound visual impairment compared to papilledema due to elevated ICP. Timely detection is crucial, and immediate symptomatic treatment followed by addressing the underlying cause is essential to prevent irreversible optic nerve damage and vision loss in cancer patients. Full article
(This article belongs to the Collection Ocular Manifestations of Systemic Diseases)
Show Figures

Figure 1

10 pages, 1403 KiB  
Case Report
Aicardi–Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation
by Marta Świerczyńska, Agnieszka Tronina and Erita Filipek
J. Pers. Med. 2023, 13(11), 1609; https://doi.org/10.3390/jpm13111609 - 15 Nov 2023
Cited by 1 | Viewed by 2104
Abstract
Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We [...] Read more.
Background: Aicardi–Goutières syndrome (AGS) is a rare genetic disorder characterized by microcephaly, white matter lesions, numerous intracranial calcifications, chilblain skin lesions and high levels of interferon-α (IFN-α) in the cerebrospinal fluid (CSF). However, ocular involvement is reported significantly less frequently. Case presentation: We present a case of a neonate with hypotrophy, microcephaly, frostbite-like skin lesions, thrombocytopenia, elevated liver enzymes and hepatosplenomegaly. Magnetic resonance imaging (MRI) of the brain showed multiple foci of calcification, white matter changes, cerebral atrophy, and atrophic dilatation of the ventricular system. The inflammatory parameters were not elevated, and the infectious etiology was excluded. Instead, elevated levels of IFN-α in the serum were detected. Based on the related clinical symptoms, imaging and test findings, the diagnosis of AGS was suspected. Genetic testing revealed two pathogenic mutations, c.490C>T and c.222del (novel mutation), in the three prime repair exonuclease 1 (TREX1) gene, confirming AGS type 1 (AGS1). An ophthalmologic examination of the child at 10 months of age revealed an impaired pupillary response to light, a corneal haze with Haab lines in the right eye (RE), pale optic nerve discs and neuropathy in both eyes (OU). The intraocular pressure (IOP) was 51 mmHg in the RE and 49 in the left eye (LE). The flash visual evoked potential (FVEP) showed prolonged P2 latencies of up to 125% in the LE and reduced amplitudes of up to approximately 10% OU. This girl was diagnosed with congenital glaucoma, and it was managed with a trabeculectomy with a basal iridectomy of OU, resulting in a reduction and stabilization in the IOP to 12 mmHg in the RE and 10 mmHg in the LE without any hypotensive eyedrops. Conclusions: We present the clinical characteristics, electrophysiological and imaging findings, as well as the genetic test results of a patient with AGS1. Our case contributes to the extended ophthalmic involvement of the pathogenic c.490C>T and c.222del mutations in TREX1. Full article
(This article belongs to the Special Issue Diagnostics and Therapeutics in Ophthalmology)
Show Figures

Figure 1

31 pages, 517 KiB  
Review
Non-Arteritic Anterior Ischemic Optic Neuropathy (NA-AION): A Comprehensive Overview
by Maria Letizia Salvetat, Francesco Pellegrini, Leopoldo Spadea, Carlo Salati and Marco Zeppieri
Vision 2023, 7(4), 72; https://doi.org/10.3390/vision7040072 - 9 Nov 2023
Cited by 37 | Viewed by 7956
Abstract
Non-arteritic anterior ischemic optic neuropathy (NA-AION) represents one of the most important causes of blindness or severely impaired vision in middle-aged and elderly people. Unilateral optic disc edema and abrupt, painless vision loss are its defining features. It is commonly assumed that NA-AION [...] Read more.
Non-arteritic anterior ischemic optic neuropathy (NA-AION) represents one of the most important causes of blindness or severely impaired vision in middle-aged and elderly people. Unilateral optic disc edema and abrupt, painless vision loss are its defining features. It is commonly assumed that NA-AION is caused by an ischemic infarction of the optic nerve head, and, although the exact pathogenesis is still unknown, several risk factors and comorbidities associated with its development have been found. NA-AION occurs generally in patients older than 50 years who have small optic discs and vasculopathy risk factors. Even though numerous treatment options have been proposed, no available effective medical or surgical therapy or prophylactic measure for NA-AION currently exists. The purpose of present-day therapeutic strategies is therefore to identify and possibly control any underlying modifiable risk factors, aiming to prevent the development of new NA-AION episodes in the affected and fellow eye. A thorough assessment of NAION, including its history, epidemiology, etiology, pathophysiology, risk factors, associated comorbidities, clinical findings, diagnostic tests, treatment choices, prognosis, and future research, is the goal of this work. Full article
11 pages, 2227 KiB  
Case Report
Leber Hereditary Optic Neuropathy (LHON) in Patients with Presumed Childhood Monocular Amblyopia
by Sanja Petrovic Pajic, Ana Fakin, Maja Sustar Habjan, Martina Jarc-Vidmar and Marko Hawlina
J. Clin. Med. 2023, 12(20), 6669; https://doi.org/10.3390/jcm12206669 - 22 Oct 2023
Cited by 2 | Viewed by 2062
Abstract
Background: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral examples, or those in which the delay of onset of vision loss between one and the other eye is longer. In the case of presumed childhood [...] Read more.
Background: Most Leber hereditary optic neuropathy (LHON) cases are bilateral and sequential; however, there are rare unilateral examples, or those in which the delay of onset of vision loss between one and the other eye is longer. In the case of presumed childhood amblyopia in one eye, vision loss in the good eye may be the only symptom of bilateral disease, which was unnoticed in the previously amblyopic eye, or a preexisting episode of LHON in the “amblyopic” eye. The clinical decision in such cases may be difficult and suggestive of other forms of atypical optic neuropathy until confirmed by genetic testing. Case series: We present three genetically confirmed (MT-ND1:m.3700G>A, MT-ND6:m14484 T>C, and MT-ND4:m.11778G>A) patients with subacute vision loss in the previously good eye, with the other eye believed to be amblyopic from childhood and their features different from what would be expected in true amblyopia. In all, electrophysiology testing showed a bilaterally reduced amplitude of PERG with low VEP P100 wave amplitudes and prolonged peak time in both eyes, also unusual for amblyopia. During follow-up, the pallor of the optic discs progressed in all eyes. Significant thinning of the peripapillary retinal nerve fiber layer (pRNFL; retinal nerve fiber layer around the optic disc) and ganglion cell complex (GCC) in the macular region was present. All three patients had a peculiar history. The first patient was treated for presumed hyperopic amblyopia that did not improve since childhood, experienced visual loss in the good eye at the age of 17, and was negative for the three typical LHON mutations. Extended testing confirmed an atypical pathogenic variant MT-ND1:m.3700G>A in homoplasmy. The second patient with presumed strabismic amblyopia had an unusual presentation of vision loss only at the age of 61, and after the exclusion of other causes, a typical MT-ND4:m.11778G>A pathogenic variant was found in homoplasmy. The third case was peculiar as he had presumed strabismic amblyopia since childhood and had some degree of disc pallor in the amblyopic eye upon presenting with loss of vision in the good eye at the age of 21, and a typical pathogenic variant m14484 T>C, p.Met64Val was subsequently confirmed. However, one year after disease onset, he started to experience significant spontaneous functional improvement in the non-amblyopic up to 1.0 Snellen whilst improvement in the presumed amblyopic eye was modest, suggesting preexisting amblyopia. This interestingly extensive improvement was carefully followed by electrophysiology as well as visual acuity and fields. Conclusions: This report shows three different scenarios of presentation of LHON in patients with presumed uniocular amblyopia from childhood. In such cases, the diagnosis may be difficult, and detailed structural and functional evaluation of the optic nerve head is necessary to assess whether an earlier LHON episode was misdiagnosed as amblyopia or whether LHON presented bilaterally on both eyes whilst only being noticed in the previously good eye. Full article
Show Figures

Figure 1

11 pages, 1416 KiB  
Article
Intravitreal Aflibercept for Patients with Acute Nonarteritic Anterior Ischemic Optic Neuropathy: A Retrospective Trial
by Kai-Chun Cheng, Chien-Chih Chiu, Kuo-Jen Chen and Yo-Chen Chang
J. Clin. Med. 2023, 12(14), 4868; https://doi.org/10.3390/jcm12144868 - 24 Jul 2023
Cited by 1 | Viewed by 1853
Abstract
Purpose: This study aimed to investigate whether intravitreal aflibercept was safe and effective in patients with acute nonarteritic anterior ischemic optic neuropathy (NAION). Methods: This was a chart study of 25 individuals with acute NAION (25 eyes). An intravitreal injection of 2 mg/0.05 [...] Read more.
Purpose: This study aimed to investigate whether intravitreal aflibercept was safe and effective in patients with acute nonarteritic anterior ischemic optic neuropathy (NAION). Methods: This was a chart study of 25 individuals with acute NAION (25 eyes). An intravitreal injection of 2 mg/0.05 mL of aflibercept was administered to fifteen participants. The remaining ten patients in the control group were given standard care. The researchers measured the initial visual acuity, retinal nerve fiber layer thickness (RNFLT), and automated perimetry. During the follow-up period, the researchers measured the final visual acuity, RNFLT, automated perimetry, and side effects. Results: Visual acuity and visual field assessment were significantly improved in the study group, and optical coherence tomography testing demonstrated significant disc edema resolution. The therapy results differed significantly between the two groups regarding visual outcomes (F = 0.027, p = 0.039) and RNFLT decrease (F = 5.507, p = 0.003). However, the difference in visual field alterations was not significant (F = 0.724, p = 0.387). Conclusions: Intravitreal injection of aflibercept can significantly improve visual acuity and resolve disc edema in patients with acute NAION. Intravitreal aflibercept may be an alternative treatment for acute NAION. However, a large series investigation is needed to assess the long-term therapeutic benefit and safety of intravitreal aflibercept in patients with acute NAION. Full article
(This article belongs to the Section Ophthalmology)
Show Figures

Figure 1

12 pages, 5596 KiB  
Article
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
by Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang and Qingjiong Zhang
Genes 2023, 14(4), 952; https://doi.org/10.3390/genes14040952 - 21 Apr 2023
Cited by 9 | Viewed by 2267
Abstract
Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical [...] Read more.
Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Biallelic FDXR variants are a frequent cause of congenital or early-onset severe retinal dystrophy, especially for patients with severe optic atrophy and retinal dystrophy in early childhood. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
Show Figures

Figure 1

10 pages, 4555 KiB  
Case Report
Oxidative Stress in Antibiotic Toxic Optic Neuropathy Mimicking Acute LHON in a Patient with Exacerbation of Cystic Fibrosis
by Lea Kovač, Marija Volk, Maja Šuštar Habjan and Marko Hawlina
Stresses 2023, 3(1), 387-396; https://doi.org/10.3390/stresses3010028 - 14 Mar 2023
Cited by 2 | Viewed by 2553
Abstract
The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic of Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis with antibiotic toxic optic neuropathy. This similarity suggested the common effect of oxidative stress on [...] Read more.
The striking similarity of disc edema without leakage on fluorescein angiography, which is pathognomonic of Leber hereditary optic neuropathy (LHON), was present in a patient with cystic fibrosis with antibiotic toxic optic neuropathy. This similarity suggested the common effect of oxidative stress on retinal ganglion cells in inherited mitochondrial and antibiotic optic neuropathies. We present the case of a patient with advanced cystic fibrosis on chronic antibiotic treatment who experienced a rapid painless bilateral visual decline over a course of a few weeks. At examination, his corrected visual acuity was reduced to 0.3 in both eyes, with dyschromatopsia and central scotoma. The appearance of the fundus resembled the typical clinical features of acute LHON with hyperemic optic discs and tortuous vessels with no dye leakage from the optic discs on fluorescein angiography. Ganglion cell layer loss was seen on optic coherence tomography, with all findings pointing to LHON. Genetic testing did not reveal any LHON-specific mutations. After extended genetic testing, a heterozygous variant c.209C>T in the OPA3 gene on chromosome 19, g.46032648G>A, classified as a variant of unknown significance, was also found. After discontinuing antibiotics and general improvements in his health, surprisingly, his visual function completely improved. Later, he also received a bilateral lung transplant that further improved his general condition, and his vision remained normal. Excluding LHON, the transient optic neuropathy in our patient could be mainly due to antibiotic toxicity of linezolid and ciprofloxacin, which have been linked to mitochondrial dysfunction and advanced cystic fibrosis with hypoxic status. We suggest the possibility that patients with cystic fibrosis may be more prone to developing mitochondrial optic neuropathy, especially with additional risk factors such as chronic antibiotic therapy, which affect mitochondrial function, and can perhaps serve as a model for LHON. Full article
Show Figures

Figure 1

18 pages, 3009 KiB  
Case Report
Spheno-Orbital Meningioma and Vision Impairment—Case Report and Review of the Literature
by Joanna Wierzbowska, Arkadiusz Zegadło, Michał Patyk and Marek Rękas
J. Clin. Med. 2023, 12(1), 74; https://doi.org/10.3390/jcm12010074 - 22 Dec 2022
Cited by 8 | Viewed by 3786
Abstract
(1) Background: Spheno-orbital meningioma (SOM) is a very rare subtype of meningioma which arises from the sphenoid ridge with an orbital extension. It exhibits intraosseous tumor growth with hyperostosis and a widespread soft-tissue growth at the dura. The intra-orbital invasion results in painless [...] Read more.
(1) Background: Spheno-orbital meningioma (SOM) is a very rare subtype of meningioma which arises from the sphenoid ridge with an orbital extension. It exhibits intraosseous tumor growth with hyperostosis and a widespread soft-tissue growth at the dura. The intra-orbital invasion results in painless proptosis and slowly progressing visual impairment. (2) Methods: We present a case of a 46-year-old woman with SOM and compressive optic nerve neuropathy related to it. Her corrected distance visual acuity (CDVA) was decreased to 20/100, she had extensive visual field (VF) scotoma, dyschromatopsia, impaired pattern-reversal visual-evoked potential (PVEP), and decreased thicknesses of the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC), measured with the swept-source optical coherence tomography (SS-OCT), and a pale optic nerve disc in her left eye. Brain CT and MRI showed a lesion at the base of the anterior cranial fossa, involving the sphenoid wing and orbit. Pterional craniotomy and a partial removal of the tumor at the base of the skull and in the left orbit with the resection of the lesional dura mater and bony defect reconstruction were performed. (3) Results: The histological examination revealed meningothelial meningioma (WHO G1). Decreased CDVA and VF defects completely recovered, and the color vision score and PVEP improved following the surgery, but RNFL and GCC remained impaired. No tumor recurrence was observed at a follow-up of 78 months. (4) Conclusions: Optic nerve dysfunction has the capacity to improve once the compression has been relieved despite the presence of the structural features of optic nerve atrophy. Full article
(This article belongs to the Section Ophthalmology)
Show Figures

Figure 1

16 pages, 4161 KiB  
Article
Deep Learning-Based Glaucoma Screening Using Regional RNFL Thickness in Fundus Photography
by Hyunmo Yang, Yujin Ahn, Sanzhar Askaruly, Joon S. You, Sang Woo Kim and Woonggyu Jung
Diagnostics 2022, 12(11), 2894; https://doi.org/10.3390/diagnostics12112894 - 21 Nov 2022
Cited by 11 | Viewed by 3739
Abstract
Since glaucoma is a progressive and irreversible optic neuropathy, accurate screening and/or early diagnosis is critical in preventing permanent vision loss. Recently, optical coherence tomography (OCT) has become an accurate diagnostic tool to observe and extract the thickness of the retinal nerve fiber [...] Read more.
Since glaucoma is a progressive and irreversible optic neuropathy, accurate screening and/or early diagnosis is critical in preventing permanent vision loss. Recently, optical coherence tomography (OCT) has become an accurate diagnostic tool to observe and extract the thickness of the retinal nerve fiber layer (RNFL), which closely reflects the nerve damage caused by glaucoma. However, OCT is less accessible than fundus photography due to higher cost and expertise required for operation. Though widely used, fundus photography is effective for early glaucoma detection only when used by experts with extensive training. Here, we introduce a deep learning-based approach to predict the RNFL thickness around optic disc regions in fundus photography for glaucoma screening. The proposed deep learning model is based on a convolutional neural network (CNN) and utilizes images taken with fundus photography and with RNFL thickness measured with OCT for model training and validation. Using a dataset acquired from normal tension glaucoma (NTG) patients, the trained model can estimate RNFL thicknesses in 12 optic disc regions from fundus photos. Using intuitive thickness labels to identify localized damage of the optic nerve head and then estimating regional RNFL thicknesses from fundus images, we determine that screening for glaucoma could achieve 92% sensitivity and 86.9% specificity. Receiver operating characteristic (ROC) analysis results for specificity of 80% demonstrate that use of the localized mean over superior and inferior regions reaches 90.7% sensitivity, whereas 71.2% sensitivity is reached using the global RNFL thicknesses for specificity at 80%. This demonstrates that the new approach of using regional RNFL thicknesses in fundus images holds good promise as a potential screening technique for early stage of glaucoma. Full article
(This article belongs to the Special Issue Deep Learning Applications in Ophthalmology)
Show Figures

Figure 1

9 pages, 1467 KiB  
Case Report
A Case of Atypical Unilateral Optic Neuritis Following BNT162b2 mRNA COVID-19 Vaccination
by Shuntaro Motegi, Takayuki Kanda and Masaru Takeuchi
Vaccines 2022, 10(10), 1574; https://doi.org/10.3390/vaccines10101574 - 20 Sep 2022
Cited by 7 | Viewed by 2734
Abstract
Background: We report a case of atypical unilateral optic neuritis after receiving the BNT162b2 mRNA-based COVID-19 vaccine. Case Presentation: An 86-year-old man complained of blurred vision and decreased visual acuity in his right eye 8 days after receiving the second BNT162b2 mRNA-based COVID-19 [...] Read more.
Background: We report a case of atypical unilateral optic neuritis after receiving the BNT162b2 mRNA-based COVID-19 vaccine. Case Presentation: An 86-year-old man complained of blurred vision and decreased visual acuity in his right eye 8 days after receiving the second BNT162b2 mRNA-based COVID-19 vaccine and was referred to our hospital. He also had pain with eye movement. Best corrected visual acuity (BCVA) in the right eye was 20/200 and critical flicker frequency dropped to 16 Hz. Relative afferent pupillary defect was positive and central scotomas were observed on visual field analysis. Fundus examination and SD-OCT revealed optic disc swelling and apparent thickening of the retinal nerve fiber layer around the optic disc in the right eye. Although either an increase in CRP or ESR on laboratory tests, demyelinating lesion on MRI, or positive of anti-MOG antibodies or anti-AQP4 antibodies were not observed, fluorescein angiography presented only hyperfluorescence of the optic disc in the right eye, but there were no findings such as papillary deficiency and choroidal delay that would suggest ischemic optic neuropathy. We diagnosed atypical optic neuritis developed after the SARS-CoV-2 mRNA-based vaccination and initiated oral corticosteroid therapy. One month later, the optic disc swelling disappeared and BCVA improved to 20/100; however, the central scotoma remained and no further improvement in visual function OD was obtained. Conclusions: An atypical acute idiopathic optic neuritis can occur after receiving the second vaccination with BNT162b2, which may present a limited response to corticosteroid therapy. Full article
(This article belongs to the Special Issue Ophthalmic Adverse Events following SARS-CoV-2 Vaccination)
Show Figures

Figure 1

11 pages, 245 KiB  
Article
Factors Associated with Deterioration of Primary Angle Closure after Lens Extraction
by Min Kyung Song, Joong Won Shin and Kyung Rim Sung
J. Clin. Med. 2022, 11(9), 2557; https://doi.org/10.3390/jcm11092557 - 2 May 2022
Cited by 9 | Viewed by 1870
Abstract
The purpose of the study was to explore factors associated with glaucomatous deterioration in eyes with primary angle closure (PAC) after lens extraction, including PAC suspect (PACS), PAC, and PAC glaucoma (PACG). We retrospectively analyzed data of 77 eyes with PACS, PAC, and [...] Read more.
The purpose of the study was to explore factors associated with glaucomatous deterioration in eyes with primary angle closure (PAC) after lens extraction, including PAC suspect (PACS), PAC, and PAC glaucoma (PACG). We retrospectively analyzed data of 77 eyes with PACS, PAC, and PACG that underwent lens extraction with more than 2 years postoperative follow-up. Postoperative glaucoma progression was analyzed by either structural (optic disc/retinal nerve fiber layer (RNFL) photographs or optical coherent tomography (OCT)) or functional (visual field (VF)) criterion. Cox proportional hazard analysis (hazard ratio (HR)) was used to determine risk factors for progression using uni-and multivariate analysis. The analysis was conducted in groups with or without glaucomatous optic neuropathy (PACS/PAC vs. PACG). Forty-one eyes with PACS/PAC and 36 eyes with PACG were included. The mean postoperative follow-up period was 3.5 ± 1.4 years. Intraocular pressure (IOP) was reduced postoperatively from 23.1 ± 14.4 to 13.4 ± 2.1 mmHg. In the PACS/PAC group, seven eyes (17.0%) showed structural progression, but none showed progression in VF. Preoperative RNFL thickness was the only risk factor for structural progression (HR = 0.928, p = 0.002) in the PACS/PAC group. In the PACG group, 24 eyes (66.7%) showed structural progression and 12 eyes (33.3%) showed VF progression. Thinner preoperative RNFL thickness (HR = 0.964, p = 0.043) and high postoperative IOP fluctuation (HR = 1.296, p = 0.011) were significantly associated with VF progression; none of the factors were associated with structural progression. Angle closure eyes with thinner baseline RNFL thickness and higher postoperative IOP fluctuation may require careful follow-up for glaucoma progression after lens extraction. Full article
(This article belongs to the Section Ophthalmology)
Back to TopTop