Neuro-Ophthalmology and Optic Neuropathy

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Neuro-otology and Neuro-ophthalmology".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 5047

Special Issue Editor


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Guest Editor
Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
Interests: stem cell biology; neuroinflammation; optic nerve regeneration; retinal ganglion cell

Special Issue Information

Dear Colleagues,

As we know, retinal ganglion cells (RGCs) are the only neurons in the eye that transmit visual information to the brain via their extending axons in the optic nerve (ON). Optic neuropathies are conditions in which there is damage to the ON caused by a variety of causes, including glaucoma, inflammation, gene mutation, ischemia, trauma, and tumor. ON damage triggers a process of axon degeneration and the loss of retinal ganglion cells (RGCs), resulting in permanent vision loss. To date, several therapeutic strategies are purposed to regenerate axons or replace the RGC loss via neuroprotection, neuroregeneration, and neuronal replacement. This Special Issue is now open to receive manuscripts on all aspects of current and future strategies for RGC and ON protection, replacement, and regeneration. In this Special Issue, we welcome the submission of full reviews, original research, as well as perspectives that cover, but are not limited to, the following topics:

  • Molecular mechanisms to protect RGCs and axons from damage.
  • Ocular inflammation and RGC/axon degeneration.
  • Stem-cell-based therapy to replace RGC loss.
  • Gene therapy in optic neuropathies.
  • Regenerative medicine in glaucoma and optic neuropathies.
  • Neuroprotection for glaucomatous optic neuropathy.

Dr. Kun-Che Chang
Guest Editor

Manuscript Submission Information

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Keywords

  • retinal ganglion cell
  • axon regeneration
  • glaucoma
  • optic neuropathy
  • stem cell therapy
  • gene therapy
  • ocular inflammation

Published Papers (3 papers)

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Review

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12 pages, 328 KiB  
Review
The Neuroimmune Regulation and Potential Therapeutic Strategies of Optic Pathway Glioma
by Khushboo Irshad, Yu-Kai Huang, Paul Rodriguez, Jung Lo, Benjamin E. Aghoghovwia, Yuan Pan and Kun-Che Chang
Brain Sci. 2023, 13(10), 1424; https://doi.org/10.3390/brainsci13101424 - 7 Oct 2023
Cited by 1 | Viewed by 1790
Abstract
Optic pathway glioma (OPG) is one of the causes of pediatric visual impairment. Unfortunately, there is as yet no cure for such a disease. Understanding the underlying mechanisms and the potential therapeutic strategies may help to delay the progression of OPG and rescue [...] Read more.
Optic pathway glioma (OPG) is one of the causes of pediatric visual impairment. Unfortunately, there is as yet no cure for such a disease. Understanding the underlying mechanisms and the potential therapeutic strategies may help to delay the progression of OPG and rescue the visual morbidities. Here, we provide an overview of preclinical OPG studies and the regulatory pathways controlling OPG pathophysiology. We next discuss the role of microenvironmental cells (neurons, T cells, and tumor-associated microglia and macrophages) in OPG development. Last, we provide insight into potential therapeutic strategies for treating OPG and promoting axon regeneration. Full article
(This article belongs to the Special Issue Neuro-Ophthalmology and Optic Neuropathy)
18 pages, 1515 KiB  
Review
Application of Proteomics Analysis and Animal Models in Optic Nerve Injury Diseases
by Zhaoyang Meng, Ran You, Arif Mahmood, Fancheng Yan and Yanling Wang
Brain Sci. 2023, 13(3), 404; https://doi.org/10.3390/brainsci13030404 - 26 Feb 2023
Viewed by 1393
Abstract
Optic nerve damage is a common cause of blindness. Optic nerve injury is often accompanied by fundus vascular disease, retinal ganglion cell apoptosis, and changes in retinal thickness. These changes can cause alterations in protein expression within neurons in the retina. Proteomics analysis [...] Read more.
Optic nerve damage is a common cause of blindness. Optic nerve injury is often accompanied by fundus vascular disease, retinal ganglion cell apoptosis, and changes in retinal thickness. These changes can cause alterations in protein expression within neurons in the retina. Proteomics analysis offers conclusive evidence to decode a biological system. Furthermore, animal models of optic nerve injury made it possible to gain insight into pathological mechanisms, therapeutic targets, and effective treatment of such injuries. Proteomics takes the proteome as the research object and studies protein changes in cells and tissues. At present, a variety of proteomic analysis methods have been widely used in the research of optic nerve injury diseases. This review summarizes the application of proteomic research in optic nerve injury diseases and animal models of optic nerve injury. Additionally, differentially expressed proteins are summarized and analyzed. Various optic nerve injuries, including those associated with different etiologies, are discussed along with their potential therapeutic targets and future directions. Full article
(This article belongs to the Special Issue Neuro-Ophthalmology and Optic Neuropathy)
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10 pages, 3236 KiB  
Case Report
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
by Ruben Jauregui, Nicolas J. Abreu, Shani Golan, Joseph F. Panarelli, Meenakshi Sigireddi, Gopi K. Nayak, Doria M. Gold, Janet C. Rucker, Steven L. Galetta and Scott N. Grossman
Brain Sci. 2023, 13(7), 1030; https://doi.org/10.3390/brainsci13071030 - 5 Jul 2023
Cited by 1 | Viewed by 1113
Abstract
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical [...] Read more.
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness. Wolfram syndrome, however, is phenotypically heterogenous with variable clinical manifestations and age of onset. We describe four cases of genetically confirmed Wolfram syndrome with variable presentations, including acute-on-chronic vision loss, dyschromatopsia, and tonic pupils. All patients had optic atrophy, only three had diabetes, and none exhibited the classic Wolfram phenotype. MRI revealed a varying degree of the classical features associated with the syndrome, including optic nerve, cerebellar, and brainstem atrophy. The cohort’s genotype and presentation supported the reported phenotype–genotype correlations for Wolfram, where missense variants lead to milder, later-onset presentation of the Wolfram syndrome spectrum. When early onset optic atrophy and/or diabetes mellitus are present in a patient, a diagnosis of Wolfram syndrome should be considered, as early diagnosis is crucial for the appropriate referrals and management of the associated conditions. Nevertheless, the condition should also be considered in otherwise unexplained, later-onset optic atrophy, given the phenotypic spectrum. Full article
(This article belongs to the Special Issue Neuro-Ophthalmology and Optic Neuropathy)
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