Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10540-007-9045-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Differentiation between multiple sclerosis and neuromyelitis optic spectrum disorders with multilevel fMRI features: A machine learning analysis.
Sci Rep
January 2025
Department of Radiology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, 330006, Jiangxi, China.
The conventional statistical approach for analyzing resting state functional MRI (rs-fMRI) data struggles to accurately distinguish between patients with multiple sclerosis (MS) and those with neuromyelitis optic spectrum disorders (NMOSD), highlighting the need for improved diagnostic efficacy. In this study, multilevel functional metrics including resting state functional connectivity, amplitude of low frequency fluctuation (ALFF), and regional homogeneity (ReHo) were calculated and extracted from 116 regions of interest in the anatomical automatic labeling atlas. Subsequently, classifiers were developed using different combinations of these selected features to distinguish between MS and NMOSD.
View Article and Find Full Text PDFThe Role of Artificial Intelligence in Predicting Optic Neuritis Subtypes From Ocular Fundus Photographs.
J Neuroophthalmol
December 2024
Division of Ophthalmology (EB-S, AS, AA-A, AS-B, DW, SS, FC), Department of Surgery, University of Calgary, Calgary, Canada; Department of Biomedical Engineering (CN), University of Calgary, Calgary, Canada; Departments of Neurology (LBDL) and Ophthalmology (LBDL), University of Michigan, Ann Arbor, Michigan; and Department of Clinical Neurosciences (SS, FC), University of Calgary, Calgary, Canada.
Background: Optic neuritis (ON) is a complex clinical syndrome that has diverse etiologies and treatments based on its subtypes. Notably, ON associated with multiple sclerosis (MS ON) has a good prognosis for recovery irrespective of treatment, whereas ON associated with other conditions including neuromyelitis optica spectrum disorders or myelin oligodendrocyte glycoprotein antibody-associated disease is often associated with less favorable outcomes. Delay in treatment of these non-MS ON subtypes can lead to irreversible vision loss.
View Article and Find Full Text PDFTOM500: A Multi-Organ Annotated Orbital MRI Dataset for Thyroid Eye Disease.
Sci Data
January 2025
Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
This study presents TOM500, a comprehensive multi-organ annotated orbital magnetic resonance imaging (MRI) dataset. It includes clinical data, T2-weighted MRI scans, and corresponding segmentations from 500 patients with thyroid eye disease (TED) during their initial visit. TED is a common autoimmune disorder with distinct orbital MRI features.
View Article and Find Full Text PDFInsights into eye genetics and recent advances in ocular gene therapy.
Mol Cell Probes
January 2025
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland, Mittlere Strasse 91, CH-4031. Electronic address:
The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic conditions, highlighting the currently approved ophthalmic gene therapy and exploring emerging therapeutic strategies under development. Inherited retinal dystrophies represent a heterogeneous group of genetic disorders that manifest across a broad spectrum from infancy to late middle age.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!